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Familial partial lipodystrophy, Köbberling type
1 OMIM reference -
1 associated gene
15 signs/symptoms
PROTEIN INTERACTIONS: 2
Acute promyelocytic leukemia
1 OMIM reference -
7 associated genes
No signs/symptoms info
Familial partial lipodystrophy, Köbberling type
Acute promyelocytic leukemia

LMNA
(UniProt - OMIM)
 NABP1
(UniProt - OMIM)
NPM1
(UniProt - OMIM)
NUMA1
(UniProt - OMIM)
PML
(UniProt - OMIM)
RARA
(UniProt - OMIM)
STAT5B
(UniProt - OMIM)
ZBTB16
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LMNA
LMNA
(0.49)
(0.49)
NUMA1
PML


Citations in the biomedical literature:


Familial partial lipodystrophy, Köbberling type
LMNA
Acute promyelocytic leukemia
NABP1 NPM1 NUMA1 PML RARA STAT5B
ZBTB16



Familial partial lipodystrophy, Köbberling type
Acute promyelocytic leukemia

Synonym(s):
- FPLD1
- Familial partial lipodystrophy type 1
Synonym(s):
- Acute myeloblastic leukemia type 3
- Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D015473
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


Acute promyelocytic leukemia

(no data available)