Cytoscape Web
Click node...


5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Congenital muscular dystrophy with cerebellar involvement
Familial partial lipodystrophy, Köbberling type

FKRP LMNA
GMPPB
POMGNT1
POMT1
POMT2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GMPPB
(0.63)
LMNA



Citations in the biomedical literature:


Congenital muscular dystrophy with cerebellar involvement
FKRP GMPPB POMGNT1 POMT1 POMT2
Familial partial lipodystrophy, Köbberling type
LMNA



Congenital muscular dystrophy with cerebellar involvement
Familial partial lipodystrophy, Köbberling type

Synonym(s):
- CMD with cerebellar involvement
- CMD-CRB

Synonym(s):
- FPLD1
- Familial partial lipodystrophy type 1

Classification (Orphanet):
- Inborn errors of metabolism
- 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:
(no data available)
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:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Familial partial lipodystrophy, Köbberling type

Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- 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


Congenital muscular dystrophy with cerebellar involvement

(no data available)