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Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

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

PROTEIN INTERACTIONS: 1

VACTERL/VATER association

1 OMIM reference -
1 associated gene
42 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

VACTERL/VATER association

CREBBP

(UniProt - OMIM)

HOXD13

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP	(0.56)	HOXD13

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		VACTERL/VATER association
	Synonym(s): (no synonyms)		Synonym(s): - VACTERL association - VATER association

	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 abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal 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: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C536495 / C536534

VACTERL/VATER association
	Very frequent - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Polyhydramnios - Prematurity - Stillbirth / neonatal death - Tracheal atresia / stenosis - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Agenesis / hypoplasia / aplasia of kidneys - Cardiac septal defect - Congenital cardiac anomaly / malformation / cardiopathy - Diaphragmatic hernia / defect / agenesis - Ectopic / horseshoe / fused kidneys - Laryngomalacia - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Vertebral segmentation anomaly / hemivertebrae Occasional - Ambiguous genitalia - Anencephaly / acrania - Anomalies of the ribs - Anus / rectum anomalies - Bifid scrotum - Cavernous / tuberous hemangioma - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Encephalocele / exencephaly - Gallbladder / common bile duct anomalies - Hypospadias / epispadias / bent penis - Intervertebral disk anomaly - Intrauterine growth retardation - Large fontanelle / delayed fontanelle closure - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Low set ears / posteriorly rotated ears - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micropenis / small penis / agenesis - Multicystic kidney / renal dysplasia - Omphalocele / exomphalos - Preaxial polydactyly (hand) - Sacro-coccyx / sacrum anomaly - Single umbilical artery - Structural anomalies of the pancreas - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes - Urethral anomalies / stenosis / posterior urethral valves / megalocystis - Uterine / uterus / Fallopian tubes anomalies
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)