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17q12 microdeletion syndrome

1 OMIM reference -
2 associated genes
21 signs/symptoms

COMMON GENES: 2
COMMON SIGNS: 3

MURCS association

1 OMIM reference -
3 associated genes
11 signs/symptoms

17q12 microdeletion syndrome

MURCS association

HNF1B	(UniProt - OMIM)		HNF1B	(UniProt - OMIM)
LHX1	(UniProt - OMIM)		LHX1	(UniProt - OMIM)
			TBX6	(UniProt - OMIM)


COMMON GENES	HNF1B LHX1

Citations in the biomedical literature:

17q12 microdeletion syndrome		MURCS association
	Synonym(s): - Del(17)(q12) - Monosomy 17q12		Synonym(s): - Klippel-Feil deformity - conductive deafness - absent vagina - MRKH syndrome type 2 - Mayer-Rokitansky-KÃ¼ster-Hauser syndrome type 2 - Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare renal disease - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Agenesis / hypoplasia / aplasia of kidneys - Hearing loss / hypoacusia / deafness - Short stature / dwarfism / nanism

17q12 microdeletion syndrome		MURCS association
	Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Multicystic kidney / renal dysplasia Frequent - Diabetes mellitus Occasional - Abnormal hepatic enzymes / transaminases - Autism / autistic disoders - Congenital absence / agenesis / aplasia / hypoplasia of the pancreas - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Oligoamnios - Renal failure - Seizures / epilepsy / absences / spasms / status epilepticus - Shawl scrotum - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Undescended / ectopic testes / cryptorchidia / unfixed testes - Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis		Very frequent - Ectopic / horseshoe / fused kidneys - Late puberty / hypogonadism / hypogenitalism - Low hair line (back) - Short neck - Uterine / uterus / Fallopian tubes anomalies - Vertebral segmentation anomaly / hemivertebrae Frequent - Anomalies of the ribs - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly