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4 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Dowling-Degos disease
Alagille syndrome due to 20p12 microdeletion

KRT5 JAG1
POFUT1
POGLUT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POFUT1
(0.52)
JAG1



Citations in the biomedical literature:


Dowling-Degos disease
KRT5 POFUT1 POGLUT1
Alagille syndrome due to 20p12 microdeletion
JAG1



Dowling-Degos disease
Alagille syndrome due to 20p12 microdeletion

Synonym(s):
- Reticular pigment anomaly of flexures

Synonym(s):
- Alagille syndrome due to del(20)(p12)
- Alagille syndrome due to monosomy 20p12
- Alagille-Watson syndrome due to monosomy 20p12
- Arteriohepatic dysplasia due to monosomy 20p12
- Syndromic bile duct paucity due to monosomy 20p12

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare hepatic disease
- Rare oncologic disease
- Rare renal disease
- Rare surgical cardiac disease

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.