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Dowling-Degos disease

4 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Familial partial lipodystrophy due to AKT2 mutations

1 associated gene
12 signs/symptoms

Dowling-Degos disease

Familial partial lipodystrophy due to AKT2 mutations

KRT5	(UniProt - OMIM)		AKT2	(UniProt - OMIM)
POFUT1	(UniProt - OMIM)
POGLUT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	POFUT1	(0.63)	AKT2

Citations in the biomedical literature:

Dowling-Degos disease		Familial partial lipodystrophy due to AKT2 mutations
	Synonym(s): - Reticular pigment anomaly of flexures		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the skin and subcutaneous tissue -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: unknown

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

Familial partial lipodystrophy due to AKT2 mutations
	Very frequent - Abnormal fat distribution / lipodystrophy - Autosomal dominant inheritance - Chronic arterial hypertension - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Insulin-dependent / type 1 diabetes Frequent - Abnormal / polycystic ovaries - Acanthosis nigricans - Liver / hepatic steatosis Occasional - Angor pectoris / myocardial infarction - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Heart / cardiac failure
Dowling-Degos disease
(no data available)