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3 OMIM references -
3 associated genes
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Self-healing collodion baby
Familial partial lipodystrophy, Köbberling type

ALOX12B LMNA
ALOXE3
TGM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ALOX12B
(0.67)
LMNA



Citations in the biomedical literature:


Self-healing collodion baby
ALOX12B ALOXE3 TGM1
Familial partial lipodystrophy, Köbberling type
LMNA



Self-healing collodion baby
Familial partial lipodystrophy, Köbberling type

Synonym(s):
- SHCB

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

Classification (Orphanet):
- Rare genetic disease
- Rare skin 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Self-healing collodion baby
Familial partial lipodystrophy, Köbberling type

Very frequent
- Autosomal recessive inheritance
- Ichthyosis / ichthyosiform dermatitis
- Restricted joint mobility / joint stiffness / ankylosis



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