SMABF1
MCID: SPN382
MIFTS: 26
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Spinal Muscular Atrophy with Congenital Bone Fractures 1 (SMABF1)
Categories:
Bone diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Spinal Muscular Atrophy with Congenital Bone Fractures 1:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in utero most patients die in the first months or years of life HPO:31
spinal muscular atrophy with congenital bone fractures 1:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Bone diseases Muscle diseases |
OMIM :
56
Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016).
(616866)
MalaCards based summary : Spinal Muscular Atrophy with Congenital Bone Fractures 1, also known as spinal muscular atrophy, type i, with congenital bone fractures, is related to spinal muscular atrophy with congenital bone fractures 2. An important gene associated with Spinal Muscular Atrophy with Congenital Bone Fractures 1 is TRIP4 (Thyroid Hormone Receptor Interactor 4). Affiliated tissues include bone, spinal cord and heart, and related phenotypes are global developmental delay and hypertelorism UniProtKB/Swiss-Prot : 73 Spinal muscular atrophy with congenital bone fractures 1: An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures. |
Diseases in the Spinal Muscular Atrophy with Congenital Bone Fractures 1 family:
Diseases related to Spinal Muscular Atrophy with Congenital Bone Fractures 1 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Spinal Muscular Atrophy with Congenital Bone Fractures 1:31 (show all 43)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616866 |
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MalaCards organs/tissues related to Spinal Muscular Atrophy with Congenital Bone Fractures 1:40
Bone,
Spinal Cord,
Heart
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Articles related to Spinal Muscular Atrophy with Congenital Bone Fractures 1:
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ClinVar genetic disease variations for Spinal Muscular Atrophy with Congenital Bone Fractures 1:6
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Search
GEO
for disease gene expression data for Spinal Muscular Atrophy with Congenital Bone Fractures 1.
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