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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
19 signs/symptoms
Nestor-Guillermo progeria syndrome
Partial acquired lipodystrophy

BANF1 LMNB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BANF1
(0.63)
LMNB2



Citations in the biomedical literature:


Nestor-Guillermo progeria syndrome
BANF1
Partial acquired lipodystrophy
LMNB2



Nestor-Guillermo progeria syndrome
Partial acquired lipodystrophy

Synonym(s):
- NGPS

Synonym(s):
- Barraquer-Simons syndrome
- Progressive cephalothoracic lipodystrophy

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Partial acquired lipodystrophy

Very frequent
- Abnormal fat distribution / lipodystrophy
- Lipoatrophy

Frequent
- Anomalies of complement
- Autoimmunity / autoimmune reaction / autoantibodies
- Hearing loss / hypoacusia / deafness
- Hematuria / microhematuria
- Hyperlymphocytosis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Myopathy
- Premature ageing
- Proteinuria
- Renal glomerular defect / glomerulopathy
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Anomalies of skin, subcutaneous tissue and mucosae
- Articular / joint pain / arthralgia
- Hirsutism / hypertrichosis / Increased body hair
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Insulin resistance
- Liver / hepatic steatosis


Nestor-Guillermo progeria syndrome

(no data available)