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17q11 microdeletion syndrome

1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Partial acquired lipodystrophy

1 OMIM reference -
1 associated gene
19 signs/symptoms

17q11 microdeletion syndrome

Partial acquired lipodystrophy

NF1	(UniProt - OMIM)		LMNB2	(UniProt - OMIM)
RNF135	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	LMNB2

Citations in the biomedical literature:

17q11 microdeletion syndrome		Partial acquired lipodystrophy
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - Barraquer-Simons syndrome - Progressive cephalothoracic lipodystrophy

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare skin disease

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

	Epidemiological data: (no data available)		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
17q11 microdeletion syndrome
(no data available)