ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
19 signs/symptoms

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

17p13.3 microduplication syndrome

ISG15	(UniProt - OMIM)		PAFAH1B1	(UniProt - OMIM)
			YWHAE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ISG15	(0.63)	PAFAH1B1

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency		17p13.3 microduplication syndrome
	Synonym(s): - MSMD due to complete ISG15 deficiency		Synonym(s): - 17p13.3 duplication syndrome - Dup(17)(p13.3) - Trisomy 17p13.3

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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

17p13.3 microduplication syndrome
	Very frequent - Broad nose / nasal bridge - Frontal bossing / prominent forehead - High forehead - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microstomia / little mouth - Short / small nose Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Short neck Occasional - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Inguinal / inguinoscrotal / crural hernia - Micropenis / small penis / agenesis - Tall stature / gigantism / growth acceleration
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
(no data available)