ODCs

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Epidermolysis bullosa simplex with pyloric atresia

1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Weaver syndrome

1 OMIM reference -
2 associated genes
37 signs/symptoms

Epidermolysis bullosa simplex with pyloric atresia

Weaver syndrome

ITGB4	(UniProt - OMIM)		EZH2	(UniProt - OMIM)
PLEC	(UniProt - OMIM)		NSD1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLEC	(0.63)	EZH2

Citations in the biomedical literature:

Epidermolysis bullosa simplex with pyloric atresia		Weaver syndrome
	Synonym(s): - EBS-PA		Synonym(s): - Camptodactyly - overgrowth - unusual facies

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536687


COMMON SIGNS	- Failure to thrive / difficulties for feeding in infancy / growth delay - Restricted joint mobility / joint stiffness / ankylosis

Epidermolysis bullosa simplex with pyloric atresia		Weaver syndrome
	Very frequent - Autosomal recessive inheritance - Polyhydramnios - Prematurity - Stomach / gastric anomaly - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Anaemia - Anomalies of nose and olfaction - Dehydration / hydroelectrolytic loss - Enanthema / aphtosa / aphta / leukoplakia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Sepsis severe / septicemia Occasional - Early death / lethality		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Advanced bone age - Broad forehead - Hypertelorism - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Long / large ear - Loose skin / skin relaxation / excess skin / creases - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Tall stature / gigantism / growth acceleration - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails Frequent - Broad foot - Broad / bifid thumb - Camptodactyly of fingers - Fine hair - Inguinal / inguinoscrotal / crural hernia - Large hand - Philtrum deeply grooved - Round face Occasional - Autosomal dominant inheritance - Congenital cardiac anomaly / malformation / cardiopathy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperextensible joints / articular hyperlaxity - Micropenis / small penis / agenesis - Pes cavus - Scoliosis - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes - Wide space between 1st-2nd toes