Spinal muscular atrophy, X-linked 2

Preferred Label : Spinal muscular atrophy, X-linked 2;

Symbol : SMAX2;

CISMeF acronym : AMCX1; SMAX2; XLSMA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinal muscular atrophy, X-linked lethal infantile; Amc, distal, X-linked; Arthrogryposis, X-linked, type I; Spinal muscular atrophy, infantile X-linked; XLSMA; AMCX1; Arthrogryposis multiplex congenita, distal, X-linked;

Description : X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death (summary by Ramser et al., 2008). Historically, Hall et al. (1982) distinguished at least 3 clinical varieties of X-linked arthrogryposis. (1) One family had a severe lethal form with severe contractures, scoliosis, chest deformities, hypotonia, micrognathia, and death from respiratory insufficiency by age 3 months. Apparently progressive loss of anterior horn cells was the cause. (2) Two families had moderately severe AMC associated with ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence. Nonprogressive intrauterine myopathy appeared to be the 'cause'. (3) In 2 families and a sporadic case, the disorder took the form of a resolving AMC, with mild to moderate contractures improving dramatically with time, normal intelligence, and no other anomalies; tight connective tissues on misplaced tendons was postulated.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ubiquitin-like modifier-activating enzyme 1 gene (UBA1, 314370.0001);

Prefixed ID : #301830;

Details

Origin ID

301830;

UMLS CUI

C1844934;

Automatic exact mappings (from CISMeF team)
- UBA1 wt Allele [NCIt concept]
- X-linked distal arthrogryposis multiplex congenita [ICD-11 More detail]
- X-linked distal arthrogryposis multiplex congenita (disorder) [SNOMED CT concept]
- X-linked spinal muscular atrophy 2 [DO Concept]
Currated CISMeF NLP mapping
- Arthrogryposis multiplex congenita, distal, X-linked [MeSH concept]
- Infantile-onset X-linked spinal muscular atrophy [ORDO Disease]
- arthrogryposis multiplex congenita, distal, X-linked [MeSH Supplementary Concept]
- x linked infantile spinal muscular atrophy [Disease (Nov.)]
DO Cross reference
- X-linked spinal muscular atrophy 2 [DO Concept]
Genes related to phenotype
- Ubiquitin-like modifier-activating enzyme 1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Areflexia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Degeneration of anterior horn cells [HPO term]
- Facial palsy [HPO term]
- Flexion contracture [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Mild to moderate improving contractures [HPO term]
- Multiple joint contractures [HPO term]
- Myopathic facies [HPO term]
- Myopathy [HPO term]
- Progressive loss of anterior horn cells [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Severe muscular hypotonia [HPO term]
- Spinal muscular atrophy [HPO term]
- Tongue fasciculations [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Infantile-onset X-linked spinal muscular atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis multiplex congenita, distal, X-linked [MeSH concept]
- Infantile-onset X-linked spinal muscular atrophy [ORDO Disease]
- X-linked distal arthrogryposis multiplex congenita (disorder) [SNOMED CT concept]
- X-linked spinal muscular atrophy 2 [DO Concept]
- arthrogryposis multiplex congenita, distal, X-linked [MeSH Supplementary Concept]
- x linked infantile spinal muscular atrophy [Disease (Nov.)]

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