MCID: FTL045
MIFTS: 6

Fatal Infantile Hypertonic Myofibrillar Myopathy

Categories: Genetic diseases, Muscle diseases

Aliases & Classifications for Fatal Infantile Hypertonic Myofibrillar Myopathy

MalaCards integrated aliases for Fatal Infantile Hypertonic Myofibrillar Myopathy:

Name: Fatal Infantile Hypertonic Myofibrillar Myopathy 12 30 6

Classifications:



External Ids:

Disease Ontology 12 DOID:0080309

Summaries for Fatal Infantile Hypertonic Myofibrillar Myopathy

Disease Ontology : 12 A myofibrillar myopathy that has material basis in homozygous mutation in the CRYAB gene on chromosome 11q23.

MalaCards based summary : Fatal Infantile Hypertonic Myofibrillar Myopathy is related to myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related. An important gene associated with Fatal Infantile Hypertonic Myofibrillar Myopathy is CRYAB (Crystallin Alpha B).

Related Diseases for Fatal Infantile Hypertonic Myofibrillar Myopathy

Diseases related to Fatal Infantile Hypertonic Myofibrillar Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related 12.2

Symptoms & Phenotypes for Fatal Infantile Hypertonic Myofibrillar Myopathy

Drugs & Therapeutics for Fatal Infantile Hypertonic Myofibrillar Myopathy

Search Clinical Trials , NIH Clinical Center for Fatal Infantile Hypertonic Myofibrillar Myopathy

Genetic Tests for Fatal Infantile Hypertonic Myofibrillar Myopathy

Genetic tests related to Fatal Infantile Hypertonic Myofibrillar Myopathy:

# Genetic test Affiliating Genes
1 Fatal Infantile Hypertonic Myofibrillar Myopathy 30 CRYAB

Anatomical Context for Fatal Infantile Hypertonic Myofibrillar Myopathy

Publications for Fatal Infantile Hypertonic Myofibrillar Myopathy

Variations for Fatal Infantile Hypertonic Myofibrillar Myopathy

ClinVar genetic disease variations for Fatal Infantile Hypertonic Myofibrillar Myopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYAB NM_001885.2(CRYAB): c.115C> G (p.Pro39Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 111911610: 111911610
2 CRYAB NM_001885.2(CRYAB): c.115C> G (p.Pro39Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111782334: 111782334

Expression for Fatal Infantile Hypertonic Myofibrillar Myopathy

Search GEO for disease gene expression data for Fatal Infantile Hypertonic Myofibrillar Myopathy.

Pathways for Fatal Infantile Hypertonic Myofibrillar Myopathy

GO Terms for Fatal Infantile Hypertonic Myofibrillar Myopathy

Sources for Fatal Infantile Hypertonic Myofibrillar Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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