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  3. ITCH E3 ubiquitin ligase deficiency
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ITCH E3 ubiquitin ligase deficiency


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Other Names:
Syndromic multisystem autoimmune disease; Autoimmune disease, syndromic multisystem

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 50 |
Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Chronic diarrhea 0002028
1%-4% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Camptodactyly
Permanent flexion of the finger or toe
0012385
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
0000453
Chronic lung disease 0006528
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
0000444
Decreased circulating IgA level 0002720
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ]
0001531
Feeding difficulties in infancy 0008872
Frontal bossing 0002007
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ]
0002020
Gastrostomy tube feeding in infancy 0011471
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Global developmental delay 0001263
Hallux valgus
Bunion
0001822
Hashimoto thyroiditis 0000872
Hepatitis
Liver inflammation
0012115
Hepatomegaly
Enlarged liver
0002240
Hypersplenism 0001971
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Hypothyroidism
Underactive thyroid
0000821
Increased vertebral height 0004570
Limited elbow extension
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ]
0001377
Low hanging columella 0009765
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Motor delay 0001270
Pancytopenia
Low blood cell count
0001876
Pectus excavatum
Funnel chest
0000767
Portal hypertension 0001409
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
0000520
Ptosis
Drooping upper eyelid
0000508
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
0002205
Reduced forced expiratory volume in one second 0032342
Relative macrocephaly
Relatively large head
0004482
Short chin
Decreased height of chin
Short lower third of face
[ more ]
0000331
Short philtrum 0000322
Short stature
Decreased body height
Small stature
[ more ]
0004322
Single transverse palmar crease 0000954
Slender long bone
Long bones slender
Thin long bones
[ more ]
0003100
Thoracic kyphoscoliosis 0005659
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes
[ more ]
0100651
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Clinodactyly
Permanent curving of the finger
0030084
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ]
0000268
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
0011800
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Prominent occiput
Prominent back of the skull
Prominent posterior skull
[ more ]
0000269
Splenomegaly
Increased spleen size
0001744
Showing of 50 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

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 MedlinePlus Genetics.

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

  • 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss ITCH E3 ubiquitin ligase deficiency. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

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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