ODCs

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2 OMIM references -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Early-onset generalized limb-onset dystonia

Familial partial lipodystrophy, KÃ¶bberling type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TOR1A	(0.75)	LMNA

Citations in the biomedical literature:

Early-onset generalized limb-onset dystonia		Familial partial lipodystrophy, KÃ¶bberling type
	Synonym(s): - DYT1 - Dystonia musculorum deformans - EOTD - Early-onset generalized torsion dystonia - Early-onset primary dystonia - Early-onset torsion dystonia - Idiopathic dystonia - Idiopathic torsion dystonia - Oppenheim dystonia		Synonym(s): - FPLD1 - Familial partial lipodystrophy type 1

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adolescence / young 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: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Early-onset generalized limb-onset dystonia		Familial partial lipodystrophy, KÃ¶bberling type
	Very frequent - Abnormal gait - Autosomal recessive inheritance - Hypertonia / spasticity / rigidity / stiffness - Movement disorder - Muscle anomalies Frequent - Abnormal cry / voice / phonation disorder / nasal speech		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