ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
8 signs/symptoms

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Congenital short bowel syndrome

ISG15	(UniProt - OMIM)		CLMP	(UniProt - OMIM)
			FLNA	(UniProt - OMIM)


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

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency		Congenital short bowel syndrome
	Synonym(s): - MSMD due to complete ISG15 deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 2 OMIM references - No MeSH references

Congenital short bowel syndrome
	Very frequent - Short bowel Frequent - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Intestinal / gut / bowel malrotation - Lipoatrophy - Short stature / dwarfism / nanism - Stillbirth / neonatal death Occasional - Hypospadias / epispadias / bent penis
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
(no data available)