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Renal cysts and diabetes syndrome

1 OMIM reference -
1 associated gene
26 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

MURCS association

1 OMIM reference -
3 associated genes
11 signs/symptoms

Renal cysts and diabetes syndrome

MURCS association

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


COMMON GENES	HNF1B

Citations in the biomedical literature:

Renal cysts and diabetes syndrome		MURCS association
	Synonym(s): - MODY5 - RCAD syndrome - Renal cysts - maturity-onset diabetes of the young - Renal dysfunction - early-onset diabetes		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 endocrine disease - Rare genetic disease - Rare renal 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): - Endocrine, nutritional and metabolic diseases -		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 - Ectopic / horseshoe / fused kidneys - Hearing loss / hypoacusia / deafness - Uterine / uterus / Fallopian tubes anomalies

Renal cysts and diabetes syndrome		MURCS association
	Very frequent - Multicystic kidney / renal dysplasia - Renal disease / nephropathy Frequent - Autosomal dominant inheritance - Diabetes mellitus Occasional - Abnormal hepatic enzymes / transaminases - Anomaly of pancreatic hormones - Arthritis / synovitis / synovial proliferation - Congenital absence / agenesis / aplasia / hypoplasia of the pancreas - Gastric / pyloric stenosis - Hepatitis / icterus / cholestasis - Hyperextensible joints / articular hyperlaxity - Hyperuricemia - Hypospadias / epispadias / bent penis - Hypothyroidy - Intellectual deficit / mental / psychomotor retardation / learning disability - Liver / hepatic steatosis - Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication - Pancreatic failure / exocrine pancreas disease - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Prognathism / prognathia - Spermatocele / epididymal / funicular / spermatic / vaginal / albugineal cyst - Thirst		Very frequent - Late puberty / hypogonadism / hypogenitalism - Low hair line (back) - Short neck - Short stature / dwarfism / nanism - Vertebral segmentation anomaly / hemivertebrae Frequent - Anomalies of the ribs - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly