Syndromic multisystem autoimmune disease due to Itch deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 28 |
| OrphanetNr: | 228426 |
| OMIM Id: |
613385
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| ICD-10: |
M32 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic intractable diarrhea of infancy
-Rare genetic disease Immunodeficiency syndrome with autoimmunity -Rare genetic disease -Rare immune disease Intractable diarrhea of infancy -Rare gastroenterologic disease Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit -Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare genetic respiratory disease -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Rare pulmonary disease -Rare respiratory disease Systemic autoimmune disease -Rare systemic or rheumatologic disease |
Symptom Information:
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(HPO:0002007) | Frontal bossing | 366 / 7739 | ||||
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(HPO:0000331) | Short chin | 33 / 7739 | ||||
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(HPO:0000520) | Proptosis | 192 / 7739 | ||||
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(HPO:0000269) | Prominent occiput | 43 / 7739 | ||||
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(HPO:0000268) | Dolichocephaly | 144 / 7739 | ||||
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(HPO:0004482) | Relative macrocephaly | 44 / 7739 | ||||
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0100651) | Type I diabetes mellitus | 44 / 7739 | ||||
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(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
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(HPO:0002028) | Chronic diarrhea | rare [HPO:skoehler] | 51 / 7739 | |||
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(HPO:0001744) | Splenomegaly | 337 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0002014) | Diarrhea | 225 / 7739 | ||||
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(HPO:0002960) | Autoimmunity | 78 / 7739 | ||||
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(OMIM) | Respiratory failure, fatal (in some patients) | 1 / 7739 | ||||
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(OMIM) | Hypothyroidism, autoantibody-positive (in some patients) | 1 / 7739 | ||||
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(OMIM) | Global hypotonia | 1 / 7739 | ||||
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(HPO:0030084) | Clinodactyly | 90 / 7739 | ||||
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(OMIM) | Flattened midface | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Cellular nonspecific interstitial pneumonitis | 2 / 7739 | ||||
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(OMIM) | Below 3rd percentile | 1 / 7739 | ||||
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(OMIM) | Enteropathy, autoimmune (in some patients) | 1 / 7739 | ||||
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(MedDRA:10058668) | Clinodactyly | 91 / 7739 | ||||
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(OMIM) | Severe chronic lung disease | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Lohr et al. (2010) studied 10 Old Order Amish children from 8 related and consanguineous families with organomegaly, failure to thrive, developmental delay, dysmorphic features, and autoimmune inflammatory cell infiltration of the lungs, liver, and gut. Growth was ... |
| Molecular genetics OMIM |
In 10 Old Order Amish patients with syndromic multisystem autoimmune disease mapping to chromosome 20q11, Lohr et al. (2010) sequenced the candidate gene ITCH and identified homozygosity for a frameshift mutation (606409.0001) in all. None of the 9 ... |