ODCs

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1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Autosomal dominant optic atrophy plus syndrome

Familial partial lipodystrophy, KÃ¶bberling type

MFN2	(UniProt - OMIM)		LMNA	(UniProt - OMIM)
OPA1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	OPA1	(0.63)	LMNA

Citations in the biomedical literature:

Autosomal dominant optic atrophy plus syndrome		Familial partial lipodystrophy, KÃ¶bberling type
	Synonym(s): - DOA+ - Optic atrophy - deafness- polyneuropathy - myopathy		Synonym(s): - FPLD1 - Familial partial lipodystrophy type 1

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

	Classification (ICD10): - Diseases of the ear and mastoid process -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance

Autosomal dominant optic atrophy plus syndrome		Familial partial lipodystrophy, KÃ¶bberling type
	Very frequent - Insensitivity to pain - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Sensorineural deafness / hearing loss Frequent - Achromatopsia / dyschromatopsia / daltonism / impaired colour vision - Areflexia / hyporeflexia - Mild visual loss / impaired visual acuity Occasional - Abnormal VEP / Visual evoked potential - Nerve conduction abnormality - Strabismus / squint		Very frequent - Abnormal fat distribution / lipodystrophy - Chronic arterial hypertension - Diabetes mellitus - Hyperinsulinism / hyperinsulinemia - Insulin resistance - Insulin-dependent / type 1 diabetes - Lipoatrophy Frequent - Abnormal / polycystic ovaries - Acanthosis nigricans - Hepatomegaly / liver enlargement (excluding storage disease) - Liver / hepatic steatosis - Xanthomas / lipomas Occasional - Angor pectoris / myocardial infarction - Pancreatitis