ODCs

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Ehlers-Danlos syndrome, musculocontractural type

2 OMIM references -
2 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis

1 OMIM reference -
3 associated genes
24 signs/symptoms

Ehlers-Danlos syndrome, musculocontractural type

Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis

CHST14	(UniProt - OMIM)	ACSL4	(UniProt - OMIM)
DSE	(UniProt - OMIM)	AMMECR1	(UniProt - OMIM)
		KCNE1L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DSE	(0.63)	ACSL4

Citations in the biomedical literature:

Ehlers-Danlos syndrome, musculocontractural type		Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
	Synonym(s): - ATCS - Adducted thumb - clubfoot syndrome - Adducted thumbs - arthrogryposis, Dundar type - CHST14-related EDS - CHST14-related Ehlers-Danlos syndrome - D4ST1-deficient EDS - D4ST1-deficient Ehlers-Danlos syndrome - EDS, Kosho type - EDS, arthrogryposic type - EDS, musculocontractural type - Ehlers-Danlos syndrome, Kosho type - Ehlers-Danlos syndrome, arthrogryposic type		Synonym(s): - AMME complex - AMME syndrome - ATS-MR

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare renal disease - Rare skin disease - Rare surgical cardiac disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hematologic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: x-linked recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Ehlers-Danlos syndrome, musculocontractural type		Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis
	Very frequent - Autosomal recessive inheritance - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Downturned mouth - Large fontanelle / delayed fontanelle closure - Long hand / arachnodactyly - Low set ears / posteriorly rotated ears - Talipes-varus / metatarsal varus Occasional - Atrial septal defect / interauricular communication - Ectopic / horseshoe / fused kidneys - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Ventricular septal defect / interventricular communication		Very frequent - Anteverted nares / nostrils - Depressed nasal bridge - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hair and scalp anomalies - Hematuria / microhematuria - Insterstitial / subtelomeric microdeletion / deletion - Mid-facial hypoplasia / short / small midface - Proteinuria - Renal glomerular defect / glomerulopathy - X-linked dominant inheritance Frequent - Hearing loss / hypoacusia / deafness - Hypotonia - Red cell structure / shape anomalies - Renal failure - Tapered fingers - Thick lips - Thin / retracted lips Occasional - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Metaphyseal anomaly - Myopia - Patent ductus arteriosus - Strabismus / squint - Supernumerary teeth / polyodontia