ODCs

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1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

3 OMIM references -
4 associated genes
12 signs/symptoms

Epidermolysis bullosa simplex with pyloric atresia

Juvenile amyotrophic lateral sclerosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLEC	(0.59)	FUS

Citations in the biomedical literature:

Epidermolysis bullosa simplex with pyloric atresia		Juvenile amyotrophic lateral sclerosis
	Synonym(s): - EBS-PA		Synonym(s): - JALS - Juvenile Charcot disease - Juvenile Lou Gehrig disease

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: childhood Average age of death: adult Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance

Epidermolysis bullosa simplex with pyloric atresia		Juvenile amyotrophic lateral sclerosis
	Very frequent - 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 - Failure to thrive / difficulties for feeding in infancy / growth delay - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Restricted joint mobility / joint stiffness / ankylosis - Sepsis severe / septicemia Occasional - Early death / lethality		Very frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Elocution disorders / dysarthria / dysphonia - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Motor deficit / trouble - Pyramidal syndrome Frequent - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Pseudobulbar signs / spasmodic laugh and cry Occasional - Bladder and ureter anomalies - Sensitive trouble / deficit