ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
26 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Renal cysts and diabetes syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP	(0.55)	HNF1B

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Renal cysts and diabetes syndrome
	Synonym(s): (no synonyms)		Synonym(s): - MODY5 - RCAD syndrome - Renal cysts - maturity-onset diabetes of the young - Renal dysfunction - early-onset diabetes

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

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

	Epidemiological data: (no data available)		Epidemiological data: (no data available)

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

Renal cysts and diabetes syndrome
	Very frequent - Multicystic kidney / renal dysplasia - Renal disease / nephropathy Frequent - Autosomal dominant inheritance - Diabetes mellitus Occasional - 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
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)