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: 9

Dubowitz syndrome

1 OMIM reference -
1 associated gene
79 signs/symptoms

X-linked distal arthrogryposis multiplex congenita

Dubowitz syndrome

UBA1

(UniProt - OMIM)

NSUN2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	UBA1	(0.49)	NSUN2

Citations in the biomedical literature:

X-linked distal arthrogryposis multiplex congenita		Dubowitz syndrome
	Synonym(s): - SMAX2 - Spinal muscular atrophy with arthrogryposis - X-linked infantile spinal muscular atrophy - X-linked spinal muscular atrophy type 2		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535380		External references: 1 OMIM reference - 1 MeSH reference: C535718


COMMON SIGNS	- Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Micrognathia / retrognathia / micrognathism / retrognathism - Ptosis - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Thin / hypoplastic / hyperconvex fingernails - Undescended / ectopic testes / cryptorchidia / unfixed testes

X-linked distal arthrogryposis multiplex congenita		Dubowitz 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 - Hypotonia - Kyphosis - Long philtrum - Narrow rib cage / thorax - Proximally set thumb - Short neck - Short / small nose - Simian crease / transverse / unique palmar crease 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		Very frequent - Autosomal recessive inheritance - Broad / bifid thumb - Flat supraorbital ridge - Hypertelorism - Intrauterine growth retardation - Microcephaly - Short stature / dwarfism / nanism - Telecanthus / canthal dystopy - Thumb hypoplasia / aplasia / absence Frequent - Antihelix anomaly - Blepharophimosis / short palpebral fissures - Clinodactyly of fifth finger - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Delayed bone age - Depressed nasal bridge - Eczema - Epicanthic folds - Fine hair - Hearing loss / hypoacusia / deafness - Hyperactivity / attention deficit - Hypospadias / epispadias / bent penis - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Immunodeficiency / increased susceptibility to infections / recurrent infections - Large fontanelle / delayed fontanelle closure - Lateral thinning of eyebrows - Low hair line-front - Low set ears / posteriorly rotated ears - Narrow face - Prominent / bat ears - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sloping forehead - Small foot - Small hand / acromicria - Wide space between 1st-2nd toes Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal pigmentary skin changes / skin pigmentation anomalies - Anaemia - Anus / rectum anomalies - Asthma / bronchospasm - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Corpus callosum / septum pellucidum total / partial agenesis - Craniostenosis / craniosynostosis / sutural synostosis - Cutis marmorata / marbled skin / livedo - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dry / squaly skin / exfoliation - Hematologic / blood / lymphatic cancer - High vaulted / narrow palate - Hydrocephaly - Hyperextensible joints / articular hyperlaxity - Hypoparathyroidy - Lymphoma - Macrostomia / big mouth - Malabsorption / chronic diarrhea / steatorrhea - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Metatarsus adductus - Myopia - Neoplasms / tumors - Nystagmus - Pectus excavatum - Polynuclear cells / neutrophils anomalies / neutropenia - Sacral sinus / dimple - Short hand / brachydactyly - Skin photosensitivity - Spina bifida occulta - Syndactyly of toes - Talipes-varus / metatarsal varus - Thin / hypoplastic toenails - Thrombocytopenia / thrombopenia