MCID: FTL045

Fatal Infantile Hypertonic Myofibrillar Myopathy malady

Neuronal diseases, Rare diseases categories

Aliases & Classifications for Fatal Infantile Hypertonic Myofibrillar Myopathy

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Sources:
51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Fatal Infantile Hypertonic Myofibrillar Myopathy:

Name: Fatal Infantile Hypertonic Myofibrillar Myopathy 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
fatal infantile hypertonic myofibrillar myopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

Orphanet51 280553
ICD10 via Orphanet28 G71.2

Summaries for Fatal Infantile Hypertonic Myofibrillar Myopathy

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MalaCards based summary: Fatal Infantile Hypertonic Myofibrillar Myopathy is related to myopathy, myofibrillar, fatal infantile hypertrophy, 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

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

idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related10.5

Symptoms for Fatal Infantile Hypertonic Myofibrillar Myopathy

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Drugs & Therapeutics for Fatal Infantile Hypertonic Myofibrillar Myopathy

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Interventional clinical trials:

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

Genetic Tests for Fatal Infantile Hypertonic Myofibrillar Myopathy

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Anatomical Context for Fatal Infantile Hypertonic Myofibrillar Myopathy

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Animal Models for Fatal Infantile Hypertonic Myofibrillar Myopathy or affiliated genes

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Publications for Fatal Infantile Hypertonic Myofibrillar Myopathy

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Variations for Fatal Infantile Hypertonic Myofibrillar Myopathy

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Clinvar genetic disease variations for Fatal Infantile Hypertonic Myofibrillar Myopathy:

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.325G> C (p.Asp109His)single nucleotide variantPathogenicrs387907339GRCh37Chr 11, 111779691: 111779691
6CRYABNM_001885.2(CRYAB): c.325-2A> Gsingle nucleotide variantLikely pathogenicrs202024436GRCh37Chr 11, 111779693: 111779693
7CRYABNM_001885.2(CRYAB): c.3G> A (p.Met1Ile)single nucleotide variantLikely pathogenicrs397516686GRCh37Chr 11, 111782446: 111782446

Expression for genes affiliated with Fatal Infantile Hypertonic Myofibrillar Myopathy

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

Pathways for genes affiliated with Fatal Infantile Hypertonic Myofibrillar Myopathy

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GO Terms for genes affiliated with Fatal Infantile Hypertonic Myofibrillar Myopathy

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Sources for Fatal Infantile Hypertonic Myofibrillar Myopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet