ODCs

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X-linked distal arthrogryposis multiplex congenita

1 OMIM reference -
1 associated gene
30 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Mosaic variegated aneuploidy syndrome

2 OMIM references -
4 associated genes
63 signs/symptoms

X-linked distal arthrogryposis multiplex congenita

Mosaic variegated aneuploidy syndrome

UBA1	(UniProt - OMIM)	BUB1	(UniProt - OMIM)
		BUB1B	(UniProt - OMIM)
		BUB3	(UniProt - OMIM)
		CEP57	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	UBA1	(0.63)	BUB3

Citations in the biomedical literature:

X-linked distal arthrogryposis multiplex congenita		Mosaic variegated aneuploidy syndrome
	Synonym(s): - SMAX2 - Spinal muscular atrophy with arthrogryposis - X-linked infantile spinal muscular atrophy - X-linked spinal muscular atrophy type 2		Synonym(s): - Warburton-Anyane-Yeboa syndrome

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

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

	Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535380		External references: 2 OMIM references - 1 MeSH reference: C536987


COMMON SIGNS	- Failure to thrive / difficulties for feeding in infancy / growth delay - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Micrognathia / retrognathia / micrognathism / retrognathism - Seizures / epilepsy / absences / spasms / status epilepticus

X-linked distal arthrogryposis multiplex congenita		Mosaic variegated aneuploidy syndrome
	Very frequent - Abnormal gait - Camptodactyly of fingers - Restricted joint mobility / joint stiffness / ankylosis - X-linked recessive inheritance Frequent - Broad nose / nasal bridge - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Dolichocephaly / scaphocephaly - Kyphosis - Long philtrum - Narrow rib cage / thorax - Proximally set thumb - Scoliosis - Short neck - Short / small nose - Simian crease / transverse / unique palmar crease - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Abnormally placed nipples - Dermoid sinus / dimple / pit (excluding sacral) - Excess nuchal skin without pterygium colli - Long / large ear - Micropenis / small penis / agenesis - Mouth held open - Ptosis - Strabismus / squint - Thin / hypoplastic / hyperconvex fingernails		Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Ascitis - Autosomal recessive inheritance - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Dandy-Walker anomaly - Dilated cerebral ventricles without hydrocephaly - Epicanthic folds - Glaucoma - Increased nuchal translucency - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Polyhydramnios - Short stature / dwarfism / nanism Frequent - Anomalies of eyes and vision - Microcephaly - Triangular face Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Acute leukemia - Ambiguous genitalia - Anomalies of bones / skeletal anomalies - Anomalies of ear and hearing - Apnea / sleep apnea - Atrial septal defect / interauricular communication - Cafe-au-lait spot - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Colon neoplasm / tumor / carcinoma / cancer - Congenital cardiac anomaly / malformation / cardiopathy - Corpus callosum / septum pellucidum total / partial agenesis - Digestive neoplasm / tumor / carcinoma / cancer - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Duodenal atresia / stenosis / megaduodenum - Early death / lethality - Estomach / gastric neoplasm / tumor / carcinoma / cancer - Flattened nose - Frontal bossing / prominent forehead - High forehead - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypothyroidy - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intrauterine growth retardation - Long / large / bulbous nose - Low set ears / posteriorly rotated ears - Multicystic kidney / renal dysplasia - Myelodysplastic syndrome - Neoplasms / tumors - Nephroblastoma / Wilms tumor - Osteolysis / osteoclasia / bone destruction / erosions - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Polyposis of the bowel / colon / intestine - Skull / cranial anomalies - Sloping forehead - Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma - Upper limb segmental anomalies - Vaginal / vulvar neoplasm / tumor / carcinoma / cancer