Disease

autosomal recessive distal hereditary motor neuronopathy 1

Definition
A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.
Synonyms
  • autosomal recessive distal spinal muscular atrophy 1
  • autosomal recessive spinal muscular atrophy with respiratory distress
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Gene
Species
Association
Disease Qualifier
Disease
Evidence
Based On
Source
References
Homo sapiensis implicated inautosomal recessive distal hereditary motor neuronopathy 1
  • IAGP
Mus musculusis implicated inautosomal recessive distal hereditary motor neuronopathy 1
  • TAS
Saccharomyces cerevisiaeis implicated inautosomal recessive distal hereditary motor neuronopathy 1
  • ISS
  • IGI
Homo sapiensis implicated via orthologyautosomal recessive distal hereditary motor neuronopathy 1
  • IEA
MGI:6194238
Rattus norvegicusis implicated via orthologyautosomal recessive distal hereditary motor neuronopathy 1
  • IEA
MGI:6194238
Mus musculusis implicated via orthologyautosomal recessive distal hereditary motor neuronopathy 1
  • IEA
MGI:6194238
Xenopus laevisis implicated via orthologyautosomal recessive distal hereditary motor neuronopathy 1
  • IEA
MGI:6194238
Xenopus tropicalisis implicated via orthologyautosomal recessive distal hereditary motor neuronopathy 1
  • IEA
MGI:6194238
Danio reriois implicated via orthologyautosomal recessive distal hereditary motor neuronopathy 1
  • IEA
MGI:6194238
Caenorhabditis elegansis implicated via orthologyautosomal recessive distal hereditary motor neuronopathy 1
  • IEA
MGI:6194238
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Associated Alleles

Allele
Species
Association
Disease Qualifier
Disease
Evidence
Source
References
Mus musculusis implicated inautosomal recessive distal hereditary motor neuronopathy 1
  • TAS
Mus musculusis implicated inautosomal recessive distal hereditary motor neuronopathy 1
  • TAS
Showing 1 - 2 of 2 rows
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Associated Models

Model
Species
Experimental condition
Association
Disease Qualifiers
Disease
Condition Modifier
Genetic Modifier
Evidence
Source
References
Mus musculusis model ofautosomal recessive distal hereditary motor neuronopathy 1
  • TAS
Mus musculusis model ofautosomal recessive distal hereditary motor neuronopathy 1
  • TAS
Showing 1 - 2 of 2 rows
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