Synonym(s): - MODY5 - RCAD syndrome - Renal cysts - maturity-onset diabetes of the young - Renal dysfunction - early-onset diabetes
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare renal disease Entire classification		Classification (ICD10): - Endocrine, nutritional and metabolic diseases - See
Epidemiological data: (no data available)		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
HNF1B	P35680	189907

- Multicystic kidney / renal dysplasia
- Renal disease / nephropathy

- Autosomal dominant inheritance
- Diabetes mellitus

- Abnormal hepatic enzymes / transaminases
- Agenesis / hypoplasia / aplasia of kidneys
- Anomaly of pancreatic hormones
- Arthritis / synovitis / synovial proliferation
- Congenital absence / agenesis / aplasia / hypoplasia of the pancreas
- Ectopic / horseshoe / fused kidneys
- Gastric / pyloric stenosis
- Hearing loss / hypoacusia / deafness
- 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
- Uterine / uterus / Fallopian tubes anomalies