Cytoscape Web
Click node...


2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Generalized arterial calcification of infancy
Insulin-resistance syndrome type A

ABCC6 INSR
ENPP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ENPP1
(0.89)
INSR



Citations in the biomedical literature:


Generalized arterial calcification of infancy
ABCC6 ENPP1
Insulin-resistance syndrome type A
INSR



Generalized arterial calcification of infancy
Insulin-resistance syndrome type A

Synonym(s):
- Idiopathic infantile arterial calcification
- Idiopathic obliterative arteriopathy
- Infantile arteriosclerosis
- Occlusive infantile arteriopathy

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare infertility

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C537440
External references:
1 OMIM reference -
No MeSH references

Insulin-resistance syndrome type A

Very frequent
- Advanced bone age
- Autosomal recessive inheritance
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Hirsutism / hypertrichosis / Increased body hair
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Insulin-independent / type 2 diabetes
- Late puberty / hypogonadism / hypogenitalism
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Tall stature / gigantism / growth acceleration



Generalized arterial calcification of infancy

(no data available)