ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
14 signs/symptoms

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Epidermolysis bullosa simplex with pyloric atresia

ISG15	(UniProt - OMIM)		ITGB4	(UniProt - OMIM)
			PLEC	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ISG15	(0.63)	PLEC

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency		Epidermolysis bullosa simplex with pyloric atresia
	Synonym(s): - MSMD due to complete ISG15 deficiency		Synonym(s): - EBS-PA

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

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

Epidermolysis bullosa simplex with pyloric atresia
	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 - 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
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
(no data available)