MCID: MYP083
MIFTS: 10

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

Genetic diseases (common) category

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

About this section

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

Name: Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related 45 10
 
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 613869

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

About this section


OMIM:45 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, is also known as myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related, and has symptoms including autosomal recessive inheritance, flexion contracture and weak cry. An important gene associated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related is CRYAB (crystallin, alpha B).

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

About this section

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

About this section

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 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 flexion contracture HP:0001371
3 weak cry HP:0001612
4 rigidity HP:0002063
5 apnea HP:0002104
6 respiratory failure HP:0002878
7 elevated serum creatine phosphokinase HP:0003236
8 muscular dystrophy HP:0003560
9 rapidly progressive HP:0003678

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

About this section

Drug clinical trials:

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

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

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

About this section

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

About this section

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

About this section

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

About this section

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

About this section

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

6
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...

About this section
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...

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet