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DSMA1
MCID: SPN408
MIFTS: 47
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Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 (DSMA1)
Categories:
Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:
Characteristics:Orphanet epidemiological data:60
spinal muscular atrophy with respiratory distress type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset within the first 3 months of life death usually occurs by 12 months of life HPO:33
spinal muscular atrophy, distal, autosomal recessive, 1:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Respiratory diseases Muscle diseases
ICD10:
34
35
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Genetics Home Reference
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26
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episodes of pneumonia. Typically between the ages of 6 weeks and 6 months, infants with this condition will experience a sudden inability to breathe due to paralysis of the muscle that separates the abdomen from the chest cavity (the diaphragm). Normally, the diaphragm contracts and moves downward during inhalation to allow the lungs to expand. With diaphragm paralysis, affected individuals require life-long support with a machine to help them breathe (mechanical ventilation). Rarely, children with SMARD1 develop signs or symptoms of the disorder later in childhood.
MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1, also known as smard1, is related to spinal muscular atrophy and proximal spinal muscular atrophy, and has symptoms including constipation and inspiratory stridor. An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2), and among its related pathways/superpathways is RNA transport. Affiliated tissues include Neural Tube and Neural Tube, and related phenotypes are hyperhidrosis and failure to thrive Disease Ontology : 12 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. UniProtKB/Swiss-Prot : 76 Neuronopathy, distal hereditary motor, 6: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. Wikipedia : 77 Distal spinal muscular atrophy type 1 (DSMA1), is a rare neuromuscular disorder involving death of motor... more...
Description from OMIM:
604320
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Human phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:33 (show all 28)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:604320UMLS symptoms related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:constipation, inspiratory stridor |
Interventional clinical trials:
Cell-based therapeutics:
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 cell therapies
at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:
Embryonic/Adult Cultured Cells Related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:
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MalaCards organs/tissues related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:42
Spinal Cord,
Skeletal Muscle
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:
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Articles related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:(show all 29)
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Genes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:76 (show all 29)
ClinVar genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:6 (show top 50) (show all 419)
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Search
GEO
for disease gene expression data for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1.
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Cellular components related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:
Biological processes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:
Molecular functions related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:
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