MCID: FTL045
MIFTS: 10

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 29 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 and corticobasal degeneration. 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 12.3
2 corticobasal degeneration 9.4 HSPB2 CRYAB
3 dilated cardiomyopathy 9.4 HSPB2 CRYAB
4 myofibrillar myopathy 9.3 HSPB2 CRYAB
5 amyotrophic lateral sclerosis 1 9.1 HSPB2 CRYAB
6 cataract 16, multiple types 8.9 HSPB2-C11orf52 HSPB2 CRYAB

Graphical network of the top 20 diseases related to Fatal Infantile Hypertonic Myofibrillar Myopathy:



Diseases related to Fatal Infantile Hypertonic Myofibrillar Myopathy

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 29 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 GRCh37 Pos GRCh38 Pos
1 CRYAB NM_001885.3(CRYAB): c.115C> G (p.Pro39Ala) single nucleotide variant Uncertain significance 11:111782334-111782334 11:111911610-111911610

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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