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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
36 signs/symptoms
Early-onset generalized limb-onset dystonia
Familial partial lipodystrophy, Dunnigan type

TOR1A LMNA


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
TOR1A
Familial partial lipodystrophy, Dunnigan type
LMNA



Early-onset generalized limb-onset dystonia
Familial partial lipodystrophy, Dunnigan 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):
- Dunnigan syndrome
- FPLD2
- Familial partial lipodystrophy type 2

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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: unknown
Average age onset: childhood
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, Dunnigan 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
- Diabetes mellitus
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Lipoatrophy
- Muscle hypertrophy
- Round face
- Skin hypoplasia / aplasia / atrophy
- Xanthomas / lipomas

Frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Nails anomalies
- Precocious menopause / secondary amenorrhea
- Premature eruption of teeth / natal teeth
- Thin skin

Occasional
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Abnormal / polycystic ovaries
- Acanthosis nigricans
- Angor pectoris / myocardial infarction
- Anomalies of complement
- Cardiomyopathy / hypertrophic / dilated
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Cranial nerves palsy
- Heart / cardiac failure
- Hirsutism / hypertrichosis / Increased body hair
- Liver / hepatic steatosis
- Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Myalgia / muscular pain
- Myopathy
- Pancreatitis
- Renal glomerular defect / glomerulopathy
- Splenomegaly
- Storage liver disease