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MCID: SPN278
MIFTS: 7
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Spinal Muscular Atrophy with Respiratory Distress Type 2
Categories:
Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Spinal Muscular Atrophy with Respiratory Distress Type 2:
Name: Spinal Muscular Atrophy with Respiratory Distress Type 2
58
Characteristics:Orphanet epidemiological data:58
spinal muscular atrophy with respiratory distress type 2
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Classifications:
MalaCards categories:
Global: Rare diseases Anatomical: Neuronal diseases Respiratory diseases Muscle diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases External Ids:
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MalaCards based summary :
Spinal Muscular Atrophy with Respiratory Distress Type 2, is also known as severe infantile axonal neuropathy with respiratory failure type 2. An important gene associated with Spinal Muscular Atrophy with Respiratory Distress Type 2 is LAS1L (LAS1 Like Ribosome Biogenesis Factor).
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Search
GEO
for disease gene expression data for Spinal Muscular Atrophy with Respiratory Distress Type 2.
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