MFMFIH-CRYAB
MCID: MYP083
MIFTS: 18

Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related (MFMFIH-CRYAB) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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

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

Name: Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related 54 24 13
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 54 66
Fatal Infantile Hypertonic Myofibrillar Myopathy 56 29
Mfm, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 24
Mfm Fatal Infantile Hypertonic Alpha-B Crystallin-Related 66
Mfmfih-Cryab 66

Characteristics:

Orphanet epidemiological data:

56
fatal infantile hypertonic myofibrillar myopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

HPO:

32
myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 613869
Orphanet 56 ORPHA280553
ICD10 via Orphanet 34 G71.2
MedGen 40 C3151236
MeSH 42 D020914

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

UniProtKB/Swiss-Prot : 66 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFMFIH-CRYAB has onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years.

MalaCards based summary : Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related, also known as myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related, is related to myofibrillar myopathy 7, and has symptoms including flexion contracture, elevated serum creatine phosphokinase and apnea. An important gene associated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related is CRYAB (Crystallin Alpha B).

OMIM : 54 Fatal infantile hypertonic myofibrillar myopathy is a severe autosomal recessive muscular dystrophy with onset in the... (613869) more...

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

Diseases related to Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 myofibrillar myopathy 7 11.3

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

Symptoms by clinical synopsis from OMIM:

613869

Clinical features from OMIM:

613869

Human phenotypes related to Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 flexion contracture 32 HP:0001371
2 elevated serum creatine phosphokinase 32 HP:0003236
3 apnea 32 HP:0002104
4 rigidity 32 HP:0002063
5 respiratory failure 32 HP:0002878
6 weak cry 32 HP:0001612
7 muscular dystrophy 32 HP:0003560

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

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

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

Genetic tests related to Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related:

id Genetic test Affiliating Genes
1 Fatal Infantile Hypertonic Myofibrillar Myopathy 29
2 Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related 24 CRYAB

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

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

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

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

Search GEO for disease gene expression data for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related.

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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