ODCs

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Congenital muscular dystrophy with integrin alpha-7 deficiency

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Lethal multiple pterygium syndrome

1 OMIM reference -
4 associated genes
39 signs/symptoms

Congenital muscular dystrophy with integrin alpha-7 deficiency

Lethal multiple pterygium syndrome

ITGA7	(UniProt - OMIM)	CHRNA1	(UniProt - OMIM)
		CHRND	(UniProt - OMIM)
		CHRNG	(UniProt - OMIM)
		RAPSN	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ITGA7	(0.73)	CHRNA1

Citations in the biomedical literature:

Congenital muscular dystrophy with integrin alpha-7 deficiency		Lethal multiple pterygium syndrome
	Synonym(s): - Congenital muscular dystrophy with ITGA7 deficiency		Synonym(s): - Autosomal recessive lethal multiple pterygium syndrome - LMPS

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Diseases of the nervous system -		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: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537378

Lethal multiple pterygium syndrome
	Very frequent - Arthrogryposis - Autosomal recessive inheritance - Broad nose / nasal bridge - Camptodactyly of fingers - Cutaneous / amniotic bands / webbing of joints - Cystic hygroma - Early death / lethality - Epicanthic folds - Hydrops fetalis - Intrauterine growth retardation - Polyhydramnios - Popliteal web - Restricted joint mobility / joint stiffness / ankylosis - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Webbed neck / pterygium colli - X-linked recessive inheritance Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hypertelorism - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Long philtrum - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Short rib cage / thorax Occasional - Abnormal dermatoglyphics - Anomalies of spine, vertebrae and pelvis - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Congenital cardiac anomaly / malformation / cardiopathy - Diaphragmatic hernia / defect / agenesis - Intestinal / gut / bowel malrotation - Malignant hyperthermia - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcephaly - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Structural anomalies of the kidney and the urinary tract - Structural anomalies of the nervous system - Synostosis - Undescended / ectopic testes / cryptorchidia / unfixed testes
Congenital muscular dystrophy with integrin alpha-7 deficiency
(no data available)