ODCs

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Split hand-split foot malformation

6 OMIM references -
5 associated genes
9 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Johanson-Blizzard syndrome

1 OMIM reference -
1 associated gene
35 signs/symptoms

Split hand-split foot malformation

Johanson-Blizzard syndrome

BTRC	(UniProt - OMIM)	UBR1	(UniProt - OMIM)
FBXW4	(UniProt - OMIM)
SHFM1	(UniProt - OMIM)
TP63	(UniProt - OMIM)
WNT10B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SHFM1	(0.63)	UBR1

Citations in the biomedical literature:

Split hand-split foot malformation		Johanson-Blizzard syndrome
	Synonym(s): - Ectrodactyly - Lobster-claw deformity - SHFM - Split hand foot malformation		Synonym(s): (no synonyms)

	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 endocrine disease - Rare genetic disease - Rare neurologic disease - Rare skin 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive

	External references: 6 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535880


COMMON SIGNS	- Autosomal recessive inheritance - Sensorineural deafness / hearing loss

Split hand-split foot malformation		Johanson-Blizzard syndrome
	Very frequent - Autosomal dominant inheritance - Oligodactyly / ectrodactyly of fingers Frequent - Syndactyly of fingers / interdigital palm Occasional - Aniridia / iris hypoplasia - Hand agenesis / absence - Trident hand / split hand / abnormal median ray - X-linked recessive inheritance		Very frequent - Abnormal implantation of hair - Alopecia - Anomalies of teeth and dentition - Failure to thrive / difficulties for feeding in infancy / growth delay - Intrauterine growth retardation - Malabsorption / chronic diarrhea / steatorrhea - Pancreatic failure / exocrine pancreas disease - Short stature / dwarfism / nanism - Short / small nose - Structural anomalies of the pancreas - Thin / hypoplastic ala nasi Frequent - Anaemia - Anodontia / oligodontia / hypodontia - Complete / partial microdontia - Defect / anomaly of lacrimal system - Delayed bone age - Delayed dentition / eruption of teeth / lack of eruption of teeth - Hypoproteinemia - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intellectual deficit / mental / psychomotor retardation / learning disability - Uterine / uterus / Fallopian tubes anomalies Occasional - Cardiac septal defect - Congenital cardiac anomaly / malformation / cardiopathy - Cutaneous edema - Death in infancy - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus - Diabetes mellitus - Hypospadias / epispadias / bent penis - Hypotonia - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcephaly - Micropenis / small penis / agenesis - Small / triangular nares / nostrils