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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
3 signs/symptoms
MODY syndrome
Pseudoxanthomatous diffuse cutaneous mastocytosis

ABCC8 KIT
BLK
CEL
GCK
HNF1A
HNF4A
INS
KCNJ11
KLF11
NEUROD1
PAX4
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BLK
(0.72)
KIT



Citations in the biomedical literature:


MODY syndrome
ABCC8 BLK CEL GCK HNF1A HNF4A
INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1

Pseudoxanthomatous diffuse cutaneous mastocytosis
KIT



MODY syndrome
Pseudoxanthomatous diffuse cutaneous mastocytosis

Synonym(s):
- Maturity-onset diabetes of the young

Synonym(s):
- Infiltrative small vesicular DCM
- Infiltrative small vesicular diffuse cutaneous mastocytosis
- Pseudoxanthomatous DCM

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare allergic disease
- Rare hematologic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

External references:
11 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



MODY syndrome

(no data available)