MCID: FTL045
MIFTS: 18

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 15

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 myopathy, myofibrillar, 2. An important gene associated with Fatal Infantile Hypertonic Myofibrillar Myopathy is CRYAB (Crystallin Alpha B), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Cellular response to heat stress.

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 11.8
2 myopathy, myofibrillar, 2 9.7 SYNPO2 CRYAB

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 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRYAB NM_001289808.2(CRYAB):c.*107A>G SNV Uncertain significance 302428 rs886047686 11:111779381-111779381 11:111908657-111908657
2 CRYAB NM_001289808.2(CRYAB):c.375A>C (p.Pro125=) SNV Uncertain significance 302431 rs886047687 11:111779641-111779641 11:111908917-111908917
3 CRYAB NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) SNV Uncertain significance 302432 rs886047688 11:111782347-111782347 11:111911623-111911623
4 CRYAB NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) SNV Uncertain significance 178013 rs149787233 11:111782333-111782333 11:111911609-111911609
5 CRYAB NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala) SNV Uncertain significance 571646 rs145768025 11:111782334-111782334 11:111911610-111911610
6 CRYAB NM_001289808.2(CRYAB):c.*60G>A SNV Uncertain significance 877466 11:111779428-111779428 11:111908704-111908704
7 CRYAB NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) SNV Uncertain significance 810752 rs1592506005 11:111779534-111779534 11:111908810-111908810
8 CRYAB NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn) SNV Uncertain significance 879070 11:111782273-111782273 11:111911549-111911549
9 CRYAB NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) SNV Uncertain significance 44232 rs2234704 11:111782297-111782297 11:111911573-111911573
10 CRYAB NM_001289808.2(CRYAB):c.*38G>C SNV Uncertain significance 302430 rs781853968 11:111779450-111779450 11:111908726-111908726
11 CRYAB NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) SNV Likely benign 41926 rs150516929 11:111779556-111779556 11:111908832-111908832
12 CRYAB NM_001289808.2(CRYAB):c.-21C>T SNV Likely benign 302433 rs376222434 11:111782469-111782469 11:111911745-111911745
13 CRYAB NM_001289808.2(CRYAB):c.324+4T>G SNV Benign 44234 rs11603779 11:111781047-111781047 11:111910323-111910323
14 CRYAB NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) SNV Benign 44239 rs4252582 11:111782389-111782389 11:111911665-111911665
15 CRYAB NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) SNV Benign 44233 rs2228387 11:111782284-111782284 11:111911560-111911560

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

Pathways related to Fatal Infantile Hypertonic Myofibrillar Myopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.19 DNAJB2 CRYAB
2
Show member pathways
10.86 DNAJC7 BAG5

GO Terms for Fatal Infantile Hypertonic Myofibrillar Myopathy

Cellular components related to Fatal Infantile Hypertonic Myofibrillar Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.7 SYNPO2 MLF2 DNAJC7 DNAJB8 DNAJB2 CRYAB
2 cytosol GO:0005829 9.5 SYNPO2 DNAJC7 DNAJB8 DNAJB5 DNAJB2 CRYAB
3 Z disc GO:0030018 9.26 SYNPO2 CRYAB
4 inclusion body GO:0016234 8.62 DNAJB2 BAG5

Biological processes related to Fatal Infantile Hypertonic Myofibrillar Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell growth GO:0030308 9.4 DNAJB2 CRYAB
2 response to unfolded protein GO:0006986 9.37 DNAJB5 DNAJB2
3 chaperone cofactor-dependent protein refolding GO:0051085 9.32 DNAJC7 DNAJB5
4 chaperone-mediated protein folding GO:0061077 9.26 DNAJB8 DNAJB2
5 negative regulation of inclusion body assembly GO:0090084 9.16 DNAJB8 DNAJB2
6 regulation of cellular response to heat GO:1900034 9.13 DNAJC7 CRYAB BAG5
7 protein folding GO:0006457 8.92 DNAJC7 DNAJB5 CRYAB BAG5

Molecular functions related to Fatal Infantile Hypertonic Myofibrillar Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 unfolded protein binding GO:0051082 9.26 DNAJB8 DNAJB5 DNAJB2 CRYAB
2 heat shock protein binding GO:0031072 9.16 DNAJC7 BAG5
3 chaperone binding GO:0051087 8.92 DNAJB8 DNAJB5 DNAJB2 BAG5

Sources for Fatal Infantile Hypertonic Myofibrillar Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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