MCID: MYP083
MIFTS: 15

Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Aliases & Descriptions for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related:

Name: Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related 50 12
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 50 68
Mfm Fatal Infantile Hypertonic Alpha-B Crystallin-Related 68
 
Fatal Infantile Hypertonic Myofibrillar Myopathy 52
Mfmfih-Cryab 68

Characteristics:

Orphanet epidemiological data:

52
fatal infantile hypertonic myofibrillar myopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

62
myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related:
Inheritance: autosomal recessive inheritance
Onset and clinical course: rapidly progressive


Classifications:



External Ids:

OMIM50 613869
Orphanet52 ORPHA280553
ICD10 via Orphanet29 G71.2
MedGen35 C3151236
MeSH37 D020914

Summaries for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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OMIM:50 Fatal infantile hypertonic myofibrillar myopathy is a severe autosomal recessive muscular dystrophy with onset in the... (613869) more...

MalaCards based summary: Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related, also known as myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related, is related to myofibrillar myopathy 7, and has symptoms including flexion contracture, weak cry and rigidity. An important gene associated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related is CRYAB (Crystallin Alpha B).

UniProtKB/Swiss-Prot:68 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related: A muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years.

Related Diseases for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Diseases related to Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myofibrillar myopathy 711.4

Symptoms for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Symptoms by clinical synopsis from OMIM:

613869

Clinical features from OMIM:

613869

HPO human phenotypes related to Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related:

(show all 7)
id Description Frequency HPO Source Accession
1 flexion contracture HP:0001371
2 weak cry HP:0001612
3 rigidity HP:0002063
4 apnea HP:0002104
5 respiratory failure HP:0002878
6 elevated serum creatine phosphokinase HP:0003236
7 muscular dystrophy HP:0003560

Drugs & Therapeutics for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related

Genetic Tests for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Anatomical Context for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Animal Models for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B... or affiliated genes

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Publications for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Variations for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Clinvar genetic disease variations for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CRYABNM_001885.2(CRYAB): c.358A> G (p.Arg120Gly)single nucleotide variantPathogenicrs104894201GRCh37Chr 11, 111779658: 111779658
2CRYABCRYAB, 2-BP DEL, 464CTdeletionPathogenic
3CRYABNM_001885.2(CRYAB): c.451C> T (p.Gln151Ter)single nucleotide variantPathogenicrs104894202GRCh37Chr 11, 111779565: 111779565
4CRYABNM_001885.2(CRYAB): c.60delC (p.Ser21Alafs)deletionPathogenicrs281865141GRCh37Chr 11, 111782389: 111782389
5CRYABNM_001885.2(CRYAB): c.343delT (p.Ser115Profs)deletionPathogenicrs281865142GRCh37Chr 11, 111779673: 111779673
6CRYABNM_001885.2(CRYAB): c.325G> C (p.Asp109His)single nucleotide variantPathogenicrs387907339GRCh37Chr 11, 111779691: 111779691

Expression for genes affiliated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Search GEO for disease gene expression data for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related.

Pathways for genes affiliated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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GO Terms for genes affiliated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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Sources for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet