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1 OMIM reference -
1 associated gene
16 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Greenberg dysplasia
Familial partial lipodystrophy, Köbberling type

LBR LMNA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LBR
(0.49)
LMNA



Citations in the biomedical literature:


Greenberg dysplasia
LBR
Familial partial lipodystrophy, Köbberling type
LMNA



Greenberg dysplasia
Familial partial lipodystrophy, Köbberling type

Synonym(s):
- Hydrops - ectopic calcification - motheaten
- Skeletal dysplasia, Greenberg type

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

Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- 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: <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:
1 OMIM reference -
1 MeSH reference: C537299
External references:
1 OMIM reference -
No MeSH references

Greenberg dysplasia
Familial partial lipodystrophy, Köbberling type

Very frequent
- Abnormal vertebral size / shape
- Abnormal / absent ossification
- Autosomal recessive inheritance
- Lymphedema
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Red cell disorders
- Rhizomelic micromelia
- Rib structure anomalies
- Short hand / brachydactyly
- Short stature / dwarfism / nanism

Frequent
- Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Narrow rib cage / thorax
- Poorly ossified skull / calvarium
- Scalp / skull defect



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