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Familial isolated congenital asplenia

1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Bladder exstrophy

1 OMIM reference -
1 associated gene
14 signs/symptoms

Familial isolated congenital asplenia

Bladder exstrophy

NKX2-5	(UniProt - OMIM)		TP63	(UniProt - OMIM)
RPSA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RPSA	(0.72)	TP63

Citations in the biomedical literature:

Familial isolated congenital asplenia		Bladder exstrophy
	Synonym(s): (no synonyms)		Synonym(s): - Classic exstrophy of the bladder

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease - Rare urogenital disease

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

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: multigenic/multifactorial

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D001746

Bladder exstrophy
	Very frequent - Anus / rectum anomalies - Bladder / cloacal exstrophy - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Umbilical hernia - Vesicorenal / vesicoureteral reflux Frequent - Inguinal / inguinoscrotal / crural hernia - Recurrent urinary infections - Urethral anomalies / stenosis / posterior urethral valves / megalocystis Occasional - Encopresis / fecal incontinence - Intestinal / gut / bowel malrotation - Omphalocele / exomphalos - Short bowel
Familial isolated congenital asplenia
(no data available)