ORPHA:228426
Syndromic multisystem autoimmune disease due to Itch deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic multisystem autoimmune disease due to Itch deficiency | |
| fr | Maladie auto-immune multisystémique syndromique par déficit en Itch | |
| de | Autoimmunkrankheit, multisystemische syndromale, durch Itch-Mangel | |
| es | Enfermedad autoinmune multisistémica sindrómica por deficiencia de Itch | |
| it | Malattia multisistemica autoimmunitaria sindromica da deficit di Itch | |
| nl | Syndromale multisystemische auto-immuunziekte door Itch-deficiëntie | |
| pt | Doença autoimune multissistémica sindromática por deficiência no Itch | |
| pl | Syndromiczna wieloukładowa choroba autoimmunologiczna z powodu niedoboru Itch | |
| cs | Syndromická multisystémová autoimunitní choroba způsobená deficitem Itch | |
| uk | Синдромальне мультисистемне аутоімунне захворювання, зумовлене Itch дефіцитом | |
| zh | ITCH基因缺陷所致综合征性多系统自身免疫病 | |
| tr | ITCH eksikliğine bağlı sendromik multisistem otoimmün hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613385 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A43.Y | NTBT | index | validated |
| MONDO | 0013245 | E | validated | |
| UMLS | C4755273 | E | validated | |
| GARD | 10775 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:101944Rare pulmonary disease
rare respiratory diseases - ORPHA:522043Syndromic autoimmune enteropathy
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:182228Systemic autoimmune disease
rare systemic and rheumatological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ITCH | Disease-causing germline mutation(s) in | Assessed | HGNC:13890 | ENSG00000078747 | 606409 | 20q11.22 | itchy E3 ubiquitin protein ligase | 20170897[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 20170897[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20170897[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
38 annotations · validated 2019-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0006528 | Chronic lung disease | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0004482 | Relative macrocephaly | |
| Frequent (79-30%) | ||
| HP:0025379 | Anti-thyroid peroxidase antibody positivity | |
| HP:0002960 | Autoimmunity | |
| HP:0008947 | Floppy infant | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0012115 | Hepatitis | |
| HP:0001971 | Hypersplenism | |
| HP:0000821 | Hypothyroidism | |
| HP:0000520 | Proptosis | |
| HP:0002719 | Recurrent infections | |
| HP:0100646 | Thyroiditis | |
| Occasional (29-5%) | ||
| HP:0002242 | Abnormal intestine morphology | |
| HP:0006554 | Acute hepatic failure | |
| HP:0025329 | Anti-glutamic acid decarboxylase antibody positivity | |
| HP:0003453 | Antineutrophil antibody positivity | |
| HP:0012385 | Camptodactyly | |
| HP:0000453 | Choanal atresia | |
| HP:0030151 | Cholangitis | |
| HP:0001394 | Cirrhosis | |
| HP:0030084 | Clinodactyly | |
| HP:0000268 | Dolichocephaly | |
| HP:0002007 | Frontal bossing | |
| HP:0031104 | Insulin receptor antibody positivity | |
| HP:0011800 | Midface retrusion | |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | |
| HP:0001876 | Pancytopenia | |
| HP:0001409 | Portal hypertension | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000269 | Prominent occiput | |
| HP:0000508 | Ptosis | |
| HP:0000331 | Short chin | |
| HP:0003262 | Smooth muscle antibody positivity | |
| HP:0100651 | Type I diabetes mellitus | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 30705142[PMID]_20170897[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228426
- This record as JSON: /data/d/228426.json