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85 Possible Causes for Mutation in the CRYAB Gene

  • Alpha-B Crystallinopathy

    Synonyms MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE ; MYOPATHY, MYOFIBRILLAR, 2 ; MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED ; MYOPATHY,[ncbi.nlm.nih.gov] A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar[diseaseinfosearch.org] Name Myopathy, Myofibrillar, 2 Synonyms ALPHA-B CRYSTALLINOPATHY, MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE, MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED[mousephenotype.org]

  • Familial Isolated Dilated Cardiomyopathy

    Giuseppe Santoro, Giuseppe Pacileo, Maria Giovanna Russo Bentham Science Publishers, ١١‏/١١‏/٢٠١٢ - 234 من الصفحات Congenital heart diseases are the most common neonatal malformations, ranging from 8 to 15/1000 live births in various communities. Improvement of knowledge in the genetic and etio-pathogenic aspects[…][books.google.com]

  • Cardiac Arrhythmia

    They are mostly caused by mutations in different genes that encode Z-disk proteins, including DES, CRYAB, LDB3, MYOT, FLNC and BAG3.[ncbi.nlm.nih.gov]

  • Myofibrillar Myopathy Type 4

    Mutations in the gene CRYAB, give rise to type 2 myofibrillar myopathy (MFM2).[ivami.com] It may be caused by mutations in any of several genes, including DES, CRYAB, MYOT, LDB3, FLNC, and BAG3; the signs and symptoms of MFM can vary widely depending on the condition's[diseaseinfosearch.org] Men and women with a mutation in only one copy of the CRYAB gene are known as carriers, meaning they do not have signs or symptoms of the disease.[rarediseases.info.nih.gov]

  • Progressive Myoclonic Epilepsy Type 3

    […] in the CRYAB gene CRYAB Myopathy, distal type 1 MYH7 Myopathy, distal type 4 FLNC Myopathy, distal with anterior tibial onset DYSF Myopathy, distal, Tateyama type CAV3 Myopathy[centogene.com] […] distress, and dysphagia, early-onset MEGF10 Myopathy, centronuclear BIN1 Myopathy, centronuclear DNM2 Myopathy, COL6A6 related COL6A6 Myopathy, desmin related, associated with mutation[centogene.com]

  • Progressive Myoclonic Epilepsy Type 8

    […] in the CRYAB gene CRYAB Myopathy, distal type 1 MYH7 Myopathy, distal type 4 FLNC Myopathy, distal with anterior tibial onset DYSF Myopathy, distal, Tateyama type CAV3 Myopathy[centogene.com] […] distress, and dysphagia, early-onset MEGF10 Myopathy, centronuclear BIN1 Myopathy, centronuclear DNM2 Myopathy, COL6A6 related COL6A6 Myopathy, desmin related, associated with mutation[centogene.com]

  • Isolated Congenital Sclerocornea

    In The CRYAB Gene Myopathy, Myofibrillar, Alpha-B Crystallin-Related Myopathy, Myofibrillar, With Or Without Cataract And/Or Cardiomyopathy MFM2 608810 Genetic Test Registry[ukgtn.nhs.uk] Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related MDDGC5 LGMD2I 607155 Genetic Test Registry Myopathy, Myofibrillar, 2 Alpha-B Crystallinopathy Myopathy, Desmin-Related, Associated With Mutation[ukgtn.nhs.uk]

  • Unverricht-Lundborg Syndrome

    […] in the CRYAB gene CRYAB Myopathy, distal type 1 MYH7 Myopathy, distal type 4 FLNC Myopathy, distal with anterior tibial onset DYSF Myopathy, distal, Tateyama type CAV3 Myopathy[centogene.com] […] disproportion SELENON Myopathy, areflexia, respiratory distress, and dysphagia, early-onset MEGF10 Myopathy, COL6A6 related COL6A6 Myopathy, desmin related, associated with mutation[centogene.com]

  • Dilated Cardiomyopathy Type 2B

    Genetic Heterogeneity of Myofibrillar Myopathy Other forms of MFM include MFM2 (608810), caused by mutation in the CRYAB gene (123590); MFM3 (609200) (182920), caused by mutation[ncbi.nlm.nih.gov] Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB[ncbi.nlm.nih.gov]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    […] in the CRYAB gene CRYAB Myopathy, distal type 1 MYH7 Myopathy, distal type 4 FLNC Myopathy, distal with anterior tibial onset DYSF Myopathy, distal, Tateyama type CAV3 Myopathy[centogene.com] […] distress, and dysphagia, early-onset MEGF10 Myopathy, centronuclear BIN1 Myopathy, centronuclear DNM2 Myopathy, COL6A6 related COL6A6 Myopathy, desmin related, associated with mutation[centogene.com]

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