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Syndromic multisystem autoimmune disease due to Itch deficiency
1 OMIM reference -
1 associated gene
79 connected diseases
No signs/symptoms info
Disease Type of connection
Giant cell glioblastoma
Gliosarcoma
Coffin-Siris syndrome
Familial thoracic aortic aneurysm and aortic dissection
Generalized pseudohypoaldosteronism type 1
Idiopathic bronchiectasis
Congenital intrauterine infection-like syndrome
WHIM syndrome
Amyotrophic lateral sclerosis
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Autosomal recessive spastic paraplegia type 20
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation
Dentatorubral pallidoluysian atrophy
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Adrenocortical carcinoma
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant brachyolmia
Autosomal dominant congenital benign spinal muscular atrophy
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial digital arthropathy-brachydactyly
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Metatropic dysplasia
Papilloma of choroid plexus
Parastremmatic dwarfism
Precursor B-cell acute lymphoblastic leukemia
Spondyloepiphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type
Familial cylindromatosis
Familial multiple trichoepithelioma
Charcot-Marie-Tooth disease type 1C
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Familial multiple meningioma
Melanoma of soft part
Huntington disease
Juvenile Huntington disease
46,XY partial gonadal dysgenesis
Alobar holoprosencephaly
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Berardinelli-Seip congenital lipodystrophy
Dedifferentiated liposarcoma
Diffuse cutaneous systemic sclerosis
Fetal Gaucher disease
Gaucher disease - ophthalmoplegia - cardiovascular calcification
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Gorlin syndrome
Heritable pulmonary arterial hypertension
Liddle syndrome
Limited cutaneous systemic sclerosis
Lobar holoprosencephaly
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Monosomy 9q22.3
Pseudohypoaldosteronism type 2E
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Squamous cell carcinoma of head and neck
Uveal coloboma - cleft lip and palate - intellectual deficit
Well-differentiated liposarcoma
Young adult-onset Parkinsonism
Acute promyelocytic leukemia
Aneurysm - osteoarthritis syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
- Rare immune disease
- Rare neurologic disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ITCH Q96J02606409
No signs/symptoms info available.