MCID: MYP083
MIFTS: 16

Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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

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

Name: Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related 51 12
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 51 69
Fatal Infantile Hypertonic Myofibrillar Myopathy 53 26
 
Mfm Fatal Infantile Hypertonic Alpha-B Crystallin-Related 69
Mfmfih-Cryab 69

Characteristics:

Orphanet epidemiological data:

53
fatal infantile hypertonic myofibrillar myopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

63
myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related:
Inheritance: autosomal recessive inheritance
Onset and clinical course: rapidly progressive

Classifications:



External Ids:

OMIM51 613869
Orphanet53 ORPHA280553
ICD10 via Orphanet30 G71.2
MedGen36 C3151236
MeSH38 D020914

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

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UniProtKB/Swiss-Prot:69 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, weak cry and rigidity. An important gene associated with Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B Crystallin-Related is CRYAB (Crystallin Alpha B).

OMIM:51 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...

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

idRelated DiseaseScoreTop Affiliating Genes
1myofibrillar myopathy 711.3

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

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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:

 63 (show all 7)
id Description HPO Frequency HPO Source Accession
1 flexion contracture63 HP:0001371
2 weak cry63 HP:0001612
3 rigidity63 HP:0002063
4 apnea63 HP:0002104
5 respiratory failure63 HP:0002878
6 elevated serum creatine phosphokinase63 HP:0003236
7 muscular dystrophy63 HP:0003560

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Fatal Infantile Hypertonic Myofibrillar Myopathy26

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

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Animal Models for Myopathy, Myofibrillar, Fatal Infantile Hypertrophy, Alpha-B... or affiliated genes

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

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

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

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

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

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

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet