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17q11 microdeletion syndrome

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

PROTEIN INTERACTIONS: 1

Wolcott-Rallison syndrome

1 OMIM reference -
1 associated gene
38 signs/symptoms

17q11 microdeletion syndrome

Wolcott-Rallison syndrome

NF1	(UniProt - OMIM)		EIF2AK3	(UniProt - OMIM)
RNF135	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	EIF2AK3

Citations in the biomedical literature:

17q11 microdeletion syndrome		Wolcott-Rallison syndrome
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - Early-onset diabetes mellitus with multiple epiphyseal dysplasia - WRS

	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 bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536739

Wolcott-Rallison syndrome
	Very frequent - Autosomal recessive inheritance - Cone epiphyses / epiphysis - Death in infancy - Epiphyseal anomaly - Insulin-independent / type 2 diabetes - Metaphyseal anomaly - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Short stature / dwarfism / nanism Frequent - Abnormal gait - Abnormal hepatic enzymes / transaminases - Acute hepatic failure - Chronic hepatic failure - Delayed bone age - Genu valgum - Hepatomegaly / liver enlargement (excluding storage disease) - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Polynuclear cells / neutrophils anomalies / neutropenia - Short hand / brachydactyly - Short rib cage / thorax - Wide rib cage / thorax Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Congenital absence / agenesis / aplasia / hypoplasia of the pancreas - Hepatitis / icterus / cholestasis - Hypoglycemia - Hypothyroidy - Intrauterine growth retardation - Kyphosis - Lordosis - Microcephaly - Mutiple fractures / bone fragility - Pancreatic failure / exocrine pancreas disease - Renal disease / nephropathy - Renal failure - Seizures / epilepsy / absences / spasms / status epilepticus
17q11 microdeletion syndrome
(no data available)