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13 OMIM references -
10 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Nuclear cataract
Familial partial lipodystrophy, Köbberling type

CRYAA LMNA
CRYBB1
CRYBB2
CRYBB3
CRYGD
FYCO1
GJA3
MIP
NHS
WFS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FYCO1
(0.72)
LMNA



Citations in the biomedical literature:


Nuclear cataract
CRYAA CRYBB1 CRYBB2 CRYBB3 CRYGD FYCO1
GJA3 MIP NHS WFS1
Familial partial lipodystrophy, Köbberling type
LMNA



Nuclear cataract
Familial partial lipodystrophy, Köbberling type

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
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:
13 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


Nuclear cataract

(no data available)