Spinal muscular atrophy with congenital bone fractures 1

Preferred Label : Spinal muscular atrophy with congenital bone fractures 1;

Symbol : SMABF1;

CISMeF acronym : SMABF1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinal muscular atrophy, type I, with congenital bone fractures;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thyroid hormone receptor interactor 4 gene (TRIP4, 604501.0001);

Prefixed ID : #616866;

Details

Origin ID

616866;

UMLS CUI

C4225177;

Automatic exact mappings (from CISMeF team)
- spinal muscular atrophy, type I, with congenital bone fractures [MeSH concept]
Genes related to phenotype
- Thyroid hormone receptor interactor 4 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal loss [HPO term]
- Cardiomyopathy [HPO term]
- Congenital onset [HPO term]
- Congestive heart failure [HPO term]
- Decreased fetal movement [HPO term]
- Diaphragmatic eventration [HPO term]
- Dysphagia [HPO term]
- Flexion contracture [HPO term]
- Generalized amyotrophy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypohidrosis [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Microretrognathia [HPO term]
- Multiple prenatal fractures [HPO term]
- Muscle fiber atrophy [HPO term]
- Muscle weakness [HPO term]
- Narrow mouth [HPO term]
- Neonatal respiratory distress [HPO term]
- Oligohydramnios [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Premature birth [HPO term]
- Pulmonary hypoplasia [HPO term]
- Secundum atrial septal defect [HPO term]
- Severe muscular hypotonia [HPO term]
- Spinal muscular atrophy [HPO term]
ORDO concept(s)
- Prenatal-onset spinal muscular atrophy with congenital bone fractures [ORDO Disease]
See also inter- (CISMeF)
- spinal muscular atrophy, type I, with congenital bone fractures [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Prenatal-onset spinal muscular atrophy with congenital bone fractures [ORDO Disease]

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