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Disease Information

Summary
Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
Summary
Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
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Resource(s) for Medical Professionals and Scientists on This Disease:

About Prolidase deficiency

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Population Estimate:Fewer than 1,000 people in the U.S. have thisdisease.
  • Symptoms:May start to appear at a variety of ages.
  • Cause:This disease has more than one possible cause.
  • Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
  • Categories:Inherited MetabolicdiseasesBirthdefectsGeneticdiseasesNeurologicaldiseasesSkindiseases

Causes

What Causes This Disease?

Genetic Mutations

Can This Disease Be Passed Down From Parent to Child?

Autosomal Recessive

When Do Symptoms of Prolidase deficiency Begin?

Symptoms of this disease may start to appear at a variety of ages.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult
65+ years
Symptoms may start to appear at a variety of ages.

Symptoms

The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.

The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):

39 Symptoms

39 Symptoms

39 Symptoms

Body Systems

Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Description and Synonyms
Frequency
Abnormal facial shape

An abnormal morphology (form) of the face or its components.

Synonyms:Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies

Frequency
Uncommon
Very frequent
Very frequent
Always
Abnormal fingernail morphology

An abnormality of the fingernails.

Synonyms:Abnormal fingernails; Abnormality of the fingernails

Frequency
Uncommon
Frequent
Frequent
Always
Abnormal hip bone morphology

An abnormality of the hip bone.

Synonyms:Abnormality of the hip bone; Abnormality of the hips

Frequency
Uncommon
Very frequent
Very frequent
Always
Abnormality of retinal pigmentation

Synonyms:Abnormal retinal pigmentation; Abnormality of retinal pigment epithelium; Abnormality of RPE; Retinal pigmentary anomaly

Frequency
Uncommon
Frequent
Frequent
Always
Abnormality of the immune system

An abnormality of the immune system.

Synonyms:Abnormality of the immune system; Immunological abnormality

Frequency
Uncommon
Very frequent
Very frequent
Always
Abnormality of the middle ear

An abnormality of the middle ear.

Synonyms:Middle ear abnormalities; Middle ear abnormality

Frequency
Uncommon
Very frequent
Very frequent
Always
Aplasia/Hypoplasia of the skin

Synonyms:Absent/small skin; Absent/underdeveloped skin

Frequency
Uncommon
Very frequent
Very frequent
Always
Arachnodactyly

Abnormally long and slender fingers ("spider fingers").

Synonyms:Long slender fingers; Long, slender fingers; Spider fingers

Frequency
Uncommon
Frequent
Frequent
Always
Bilateral single transverse palmar creases

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.

Frequency
Uncommon
Frequent
Frequent
Always
Carious teeth

Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.

Synonyms:Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay

Frequency
Uncommon
Very frequent
Very frequent
Always
Crusting erythematous dermatitis
This section is currently in development.
Frequency
Uncommon
Very frequent
Very frequent
Always
Cutaneous photosensitivity

An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.

Synonyms:Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity

Frequency
Uncommon
Very frequent
Very frequent
Always
Depressed nasal bridge

Posterior positioning of the nasal root in relation to the overall facial profile for age.

Synonyms:Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge

Frequency
Uncommon
Very frequent
Very frequent
Always
Depressed nasal ridge

Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.

Synonyms:Depressed dorsum of nose; Depressed nasal dorsum; Flat dorsum of nose; Flat nasal dorsum; Flat nose; Recessed dorsum of nose; Recessed nasal dorsum; Recessed nasal ridge; Retruded dorsum of nose; Retruded nasal dorsum; Retruded nasal ridge

Frequency
Uncommon
Frequent
Frequent
Always
Dry skin

Skin characterized by the lack of natural or normal moisture.

Synonyms:Dry skin; Xerosis

Frequency
Uncommon
Very frequent
Very frequent
Always
Erythema

Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.

Synonyms:Redness of skin or mucous membrane

Frequency
Uncommon
Very frequent
Very frequent
Always
Generalized hirsutism

Abnormally increased hair growth over much of the entire body.

Synonyms:Excessive hairiness over body

Frequency
Uncommon
Frequent
Frequent
Always
Genu valgum

The legs angle inward, such that the knees are close together and the ankles far apart.

Synonyms:Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees

Frequency
Uncommon
Frequent
Frequent
Always
Hearing impairment

A decreased magnitude of the sensory perception of sound.

Synonyms:Deafness; Hearing defect; Hearing impairment; Hypacusis

Frequency
Uncommon
Very frequent
Very frequent
Always
Hepatomegaly

Abnormally increased size of the liver.

Synonyms:Enlarged liver

Frequency
Uncommon
Occasional
Occasional
Always
Hirsutism

Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).

Synonyms:Excessive hairiness

Frequency
Uncommon
Frequent
Frequent
Always
Hyperkeratosis

Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.

Frequency
Uncommon
Very frequent
Very frequent
Always
Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).

Synonyms:Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance

Frequency
Uncommon
Frequent
Frequent
Always
Hypoplasia of the zygomatic bone

Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.

Synonyms:Cheekbone underdevelopment; Decreased size of cheekbone; Decreased size of zygomatic bone; Hypoplasia of cheekbone; Underdevelopment of cheekbone; Underdevelopment of zygomatic bone

Frequency
Uncommon
Occasional
Occasional
Always
Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation

Frequency
Uncommon
Occasional
Occasional
Always
Low anterior hairline

Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.

Synonyms:Low frontal hairline; Low-set frontal hairline

Frequency
Uncommon
Frequent
Frequent
Always
Micrognathia

Developmental hypoplasia of the mandible.

Synonyms:Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Lower jaw retrusion; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Mandibular retrognathia; Mandibular retrusion; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible

Frequency
Uncommon
Frequent
Frequent
Always
Palmoplantar keratoderma

Abnormal thickening of the skin of the palms of the hands and the soles of the feet.

Synonyms:Palmar and plantar keratoderma; Thickening of palms and soles

Frequency
Uncommon
Very frequent
Very frequent
Always
Papule

A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.

Synonyms:Papules

Frequency
Uncommon
Very frequent
Very frequent
Always
Proptosis

An eye that is protruding anterior to the plane of the face to a greater extent than is typical.

Synonyms:Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi

Frequency
Uncommon
Occasional
Occasional
Always
Pruritus

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.

Synonyms:Itching; Itchy skin; Skin itching

Frequency
Uncommon
Very frequent
Very frequent
Always
Recurrent cystitis

Repeated infections of the urinary bladder.

Synonyms:Recurrent bladder infections

Frequency
Uncommon
Occasional
Occasional
Always
Recurrent respiratory infections

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.

Synonyms:Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections

Frequency
Uncommon
Very frequent
Very frequent
Always
Reduced bone mineral density

A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.

Synonyms:Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones

Frequency
Uncommon
Occasional
Occasional
Always
Skin ulcer

A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.

Synonyms:Open skin sore

Frequency
Uncommon
Very frequent
Very frequent
Always
Splenomegaly

Abnormal increased size of the spleen.

Synonyms:Increased spleen size

Frequency
Uncommon
Occasional
Occasional
Always
Thin skin

Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.

Synonyms:Thin skin

Frequency
Uncommon
Very frequent
Very frequent
Always
Visual impairment

Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Synonyms:Impaired vision; Loss of eyesight; Poor vision; Visual impairment

Frequency
Uncommon
Frequent
Frequent
Always
White forelock

A triangular depigmented region of white hairs located in the anterior midline of the scalp.

Synonyms:Poliosis of anterior hair; Poliosis of forelock hair; White part of hair above forehead

Frequency
Uncommon
Frequent
Frequent
Always

Diagnostic Journey

On average, it takes more than six years to receive an accurate rare disease diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and you may need to see multiple specialists to reach the correct diagnosis. However, advocating for yourself with your healthcare team may help speed your time to diagnosis. To combat common challenges, be prepared:

  • Find disease-specific information to discuss with your healthcare providers.
  • Ask for diagnostic tests.
  • Request referrals to specialists.

Knowing where to start your diagnostic journey and how to navigate the next steps are critical to speeding your time to diagnosis

Your Diagnostic Team

How can a diagnostic team help?

Establishing care with a dedicated primary care provider (PCP) is an important early step in your rare disease journey. A PCP can help improve care and shorten the time to diagnosis by providing referrals to the appropriate specialists. These specialists, with advanced training in different body systems or types of diseases, can offer the specialized diagnostic procedures you need.

Use this tool by Medicare to find a PCP in your area by inputting your location and keyword "Primary Care Provider."

A PCP that specializes in the care of children is called a pediatrician. Use this tool by the American Academy of Pediatrics to find a pediatrician in your area by inputting your location.
Diagnostic teams for Prolidase deficiency may include:
 

Multidisciplinary Care Centers

Is it time to find a multidisciplinary care center?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.



Multidisciplinary Care Centers

Is it time to find a multidisciplinary care center?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.




Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. 
Contact a GARD Information Specialist for help finding an expert.

Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. 
Contact a GARD Information Specialist for help finding an expert.

 

Find Your Community

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page. Request an update or to have your organization added to GARD.

Patient Organizations

6 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Prolidase deficiency

Helpful Links
Country

United Kingdom

People With

Skin diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

Participate in Research

Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
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Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Read More

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.

Last Updated: December 2024