ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
27 signs/symptoms

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Ehlers-Danlos syndrome, kyphoscoliotic type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ISG15	(0.63)	PLOD1

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency		Ehlers-Danlos syndrome, kyphoscoliotic type
	Synonym(s): - MSMD due to complete ISG15 deficiency		Synonym(s): - EDS VIA - EDS, kyphoscoliotic type - EDS, oculoscoliotic type - Ehlers-Danlos syndrome type 6A - Ehlers-Danlos syndrome, oculoscoliotic type

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare systemic or rheumatologic 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: - Type of inheritance: autosomal recessive

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

Ehlers-Danlos syndrome, kyphoscoliotic type
	Very frequent - Abnormal gait - Abnormal scarring / cheloids / hypertrophic scars - Aortic dissection - Arterial rupture - Autosomal recessive inheritance - Fragility of the eye globe - Hyperextensible joints / articular hyperlaxity - Hypotonia - Joint dislocation / subluxation - Kyphosis - Metabolic anomalies - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Myopia - Scoliosis Frequent - Glaucoma - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperelastic skin / cutaneous hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Keratoconus / keratoglobus - Microcornea - Mucosal / cutaneous hemorrhage - Retinal detachment - Retinopathy - Visual loss / blindness / amblyopia Occasional - Corneal dystrophy - Talipes-varus / metatarsal varus
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
(no data available)