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  3. Nakajo syndrome
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Nakajo syndrome


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Other Names:
Nodular erythema digital changes
Categories:
Congenital and Genetic Diseases

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 75 |
Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Acanthosis nigricans
Darkened and thickened skin
0000956
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
0011675
Arthralgia
Joint pain
0002829
Basal ganglia calcification 0002135
Bone pain 0002653
Childhood onset
Symptoms begin in childhood
0011463
Chronic constipation
Infrequent bowel movements
0012450
Conjunctivitis
Pink eye
0000509
Death in adolescence 0011421
Decreased HDL cholesterol concentration
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ]
0003233
Elevated C-reactive protein level 0011227
Elevated erythrocyte sedimentation rate
High ESR
0003565
Elevated hepatic transaminase
High liver enzymes
0002910
Epididymitis 0000031
Episcleritis
Inflammation of the thin layer on top of the white part of eye
0100534
Erythema nodosum 0012219
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Finger swelling 0025131
Flexion contracture of finger 0012785
Gynecomastia
Enlarged male breast
0000771
Hallux valgus
Bunion
0001822
Hepatomegaly
Enlarged liver
0002240
Hypertrichosis 0000998
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
0002155
Hypoplastic scapulae
Small shoulder blade
0000882
Increased circulating IgA level 0003261
Increased circulating IgG level 0003237
Increased circulating interleukin 6 0030783
Increased circulating interleukin 8 0033178
Increased serum interferon-gamma level 0030356
Increased thyroid-stimulating hormone level 0002925
Infantile onset
Onset in first year of life
Onset in infancy
[ more ]
0003593
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
0001256
Irregular menstruation
Menstrual irregularity
0000858
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Lymphadenopathy
Swollen lymph nodes
0002716
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
0000158
Microcytic anemia 0001935
Parotitis 0011850
Premature graying of hair
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ]
0002216
Progeroid facial appearance
Premature aged appearance
0005328
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
0000520
Protuberant abdomen
Belly sticks out
Extended belly
[ more ]
0001538
Punctate opacification of the cornea 0007856
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ]
0001954
Recurrent otitis media
Recurrent middle ear infection
0000403
Recurrent sinusitis 0011108
Reduced tendon reflexes 0001315
Seizure 0001250
Short stature
Decreased body height
Small stature
[ more ]
0004322
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
Skin plaque 0200035
Sparse axillary hair
Limited armpit hair
Little underarm hair
[ more ]
0002215
Splenomegaly
Increased spleen size
0001744
Thrombocytopenia
Low platelet count
0001873
Percent of people who have these symptoms is not available through HPO
Adipose tissue loss
Loss of fat tissue
0008887
Autosomal recessive inheritance 0000007
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cardiomegaly
Enlarged heart
Increased heart size
[ more ]
0001640
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ]
0100759
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ]
0001635
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
0002987
Erythema 0010783
Flexion contracture of toe 0005830
Growth abnormality
Abnormal growth
Growth issue
[ more ]
0001507
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Impaired glucose tolerance 0040270
Long fingers 0100807
Loss of facial adipose tissue
Decreased amount of facial fat
Loss of facial fat
[ more ]
0000292
Macrotia
Large ears
0000400
Muscle weakness
Muscular weakness
0001324
Panniculitis
Inflammation of fat tissue
0012490
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
0000448
Stiff skin 0030053
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
0000179
Showing of 75 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Nakajo syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

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