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6 OMIM references -
5 associated genes
9 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Split hand-split foot malformation
Bladder exstrophy

BTRC TP63
FBXW4
SHFM1
TP63
WNT10B


COMMON
GENES
TP63


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BTRC
(0.79)
TP63



Citations in the biomedical literature:


Split hand-split foot malformation
BTRC FBXW4 SHFM1 TP63 WNT10B
Bladder exstrophy



Split hand-split foot malformation
Bladder exstrophy

Synonym(s):
- Ectrodactyly
- Lobster-claw deformity
- SHFM
- Split hand foot malformation

Synonym(s):
- Classic exstrophy of the bladder

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: 1-9 / 100 000
Average age onset: neonatal/infancy
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:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D001746

Split hand-split foot malformation
Bladder exstrophy

Very frequent
- Autosomal dominant inheritance
- Oligodactyly / ectrodactyly of fingers

Frequent
- Syndactyly of fingers / interdigital palm

Occasional
- Aniridia / iris hypoplasia
- Autosomal recessive inheritance
- Hand agenesis / absence
- Sensorineural deafness / hearing loss
- Trident hand / split hand / abnormal median ray
- X-linked recessive inheritance


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