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Growth retardation-mild developmental delay-chronic hepatitis syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Pseudoxanthomatous diffuse cutaneous mastocytosis
1 associated gene
3 signs/symptoms
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Pseudoxanthomatous diffuse cutaneous mastocytosis

SH2B3
(UniProt - OMIM)
 KIT
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SH2B3
(0.89)
KIT


Citations in the biomedical literature:


Growth retardation-mild developmental delay-chronic hepatitis syndrome
SH2B3
Pseudoxanthomatous diffuse cutaneous mastocytosis
KIT



Growth retardation-mild developmental delay-chronic hepatitis syndrome
Pseudoxanthomatous diffuse cutaneous mastocytosis

Synonym(s):
(no synonyms)

Synonym(s):
- Infiltrative small vesicular DCM
- Infiltrative small vesicular diffuse cutaneous mastocytosis
- Pseudoxanthomatous DCM
Classification (Orphanet):
- Rare genetic disease
- Rare hepatic disease
Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references
Pseudoxanthomatous diffuse cutaneous mastocytosis

Very frequent
- Dermal / subcutaneous infiltration / induration
- Mastocytosis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment



Growth retardation-mild developmental delay-chronic hepatitis syndrome

(no data available)