Peripheral neuropathy is present in about 20% of affected individuals. Overt cardiomyopathy is present in 15%-30%. [ncbi.nlm.nih.gov]

Acronym MFMFIH-CRYAB Synonyms MFM fatal infantile hypertonic alpha-B crystallin-related Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012 ).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD [mendelian.co]

Genome Epidemiology (HuGE) Navigator CRYAB Atlas of Genetics and Cytogenetics in Oncology and Haematology: CRYAB No data available for Genatlas for CRYAB Gene CRYAB promoter polymorphisms: influence on multiple sclerosis susceptibility and clinical presentation [genecards.org]

Some forms of myopathy do not present until late adulthood, which makes determination of penetrance difficult. Prevalence/Incidence Most forms of myopathy are rare, and the overall prevalence is unknown. [invitae.com]

• Hodgkin Lymphoma

  Limb-girdle muscular dystrophy Meningitis Osteomyelitis Fava bean-induced hemolytic anemia Prolonged neonatal jaundice Reticulocytosis Hodgkin lymphoma Myelitis Nonspherocytic hemolytic anemia Unconjugated hyperbilirubinemia Presenile cataracts Kernicterus [mendelian.co]

  Lymphocytes reduced or absent Lymphocytic colitis Lymphocytic infiltrate of Jessner Lymphocytic vasculitis Lymphoid hamartoma Lymphoma, AIDS-related Lymphoma, gastric non Hodgkins type Lymphoma, large-cell, immunoblastic Lymphoma, large-cell Lymphoma [sosu.us]

• Respiratory Insufficiency

  Here we report four Chinese infants with fatal neuromuscular disorders characterized by abdominal and trunk skeletal muscle stiffness and rapid respiratory insufficiency progression. [jin.imrpress.com]

  Apnea Respiratory failure Respiratory insufficiency Abnormality of the voice Weak cry IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading [ncbi.nlm.nih.gov]

  Respiratory insufficiency, progressive - Weak cry - Apneic episodes - Respiratory failure Skeletal - Contractures (variable) [mnglabs.com]

  insufficiency, cardiomyopathy, and cataracts. [mendelian.co]

• Respiratory Distress

  distress Hypertrophic cardiomyopathy Muscular dystrophy Feeding difficulties Elevated serum creatine phosphokinase Generalized hypotonia Adult onset Splenomegaly Stroke Scarring Hypopigmentation of the skin Progressive visual loss Macular degeneration [mendelian.co]

  Other symptoms associated with myopathies may include muscle cramps, stiffness, and/or spasms, joint contractures, and respiratory insufficiency. [invitae.com]

  distress-1 INF2 gene FSGS5 Focal segmental glomerulosclerosis-5 Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis JAK2 gene Thrombocythemia-3 Polycythemia vera, the most common form of primary polycythemia KCNE2 gene ATFB4 Form of [julesberman.blogspot.com]

  distress, 610978 (3)- NKX2-1 Choroid plexus papilloma, 260500 (3)- TP53 Choroidal dystrophy, central areolar 2, 613105 (3)- PRPH2 Choroideremia, 303100 (3)- CHM Chronic granulomatous disease, X-linked, 306400 (3)- CYBB Chudley-McCullough syndrome, 604213 [rcpa.edu.au]

• Dyspnea

  Splenomegaly Stroke Scarring Hypopigmentation of the skin Progressive visual loss Macular degeneration Emphysema Choroidal neovascularization Gout Drusen Hypertension Geographic atrophy Macular drusen Polypoidal choroidal vasculopathy Foveal hypopigmentation Dyspnea [mendelian.co]

• Muscle Rigidity

  Progressive muscular rigidity with respiratory failure in infancy: a new myopathy. Can J Neurol Sci ; August 1979, 6 : 379 (abstract). 3. Dudley, AW. Progressive neonatal rigidity. In: Kakulas, V and Adams, R, eds. Diseases of Muscle. [cambridge.org]

• Myopathy

  Journal of Integrative Neuroscience 2021, Vol. 20 Issue (1): 143-151 DOI: 10.31083/j.jin.2021.01.267 Case Report Previous articles | Next articles c.3G>A mutation in the CRYAB gene that causes fatal infantile hypertonic myofibrillar myopathy in the Chinese [jin.imrpress.com]

  Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. [ncbi.nlm.nih.gov]

  View the complete list with 22 more genes Specificity 3 % Genes 100 % Congenital Myopathy and Distal Myopathy NGS panel. By Asper Biogene Asper Biogene LLC in Estonia. [mendelian.co]

  myopathy DYSF ✓ Miyoshi muscular dystrophy-1 FHL1 ✓ myofibrillar myopathy FKBP14 ✓ Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss FLNC ✓ distal myopathy-4, myofibrillar myopathy-5 GNE ✓ GNE-related myopathy GYS1 ✓ [invitae.com]

  Implication dans la Maladie: Myopathy, myofibrillar, 2: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the [antibodies.com]

• Suggestibility

  No Suggested Reading articles found! Viewed Full text Abstract Cited Shared Discussed [jin.imrpress.com]

  Unaffected members (the father and three of his children) were heterozygous for the mutation, suggesting an autosomal recessive pattern of inheritance. The mutation was not found in 150 Saudi controls. [cags.org.ae]

  For example, GO enrichment test suggested that cluster AA1 and AA4 are involved in visual perception and eye development, but GO term related to cardiomyopathy was not enriched. [peerj.com]

  The clinical features, elevated serum creatine kinase, electromyographic and muscle biopsy findings suggest a dystrophic process. The recognition of this condition as an autosomal recessive disorder allows appropriate genetic counselling. [cambridge.org]

  They also suggested that the term 'intermediate' should not be used to describe a single NCV value, but rather the CMT subtype at the level of the family (e.g., in families with a range or combinations of NCV values). [mendelian.co]

• Febrile Seizures

  […] infection-related epilepsy syndrome MONDO_0015584 Condition Fever-induced refractory epileptic encephalopathy in school-aged children familial mesial temporal lobe epilepsy with febrile seizures MONDO_0013742 Condition Febrile Seizures, Familial, type [search.clinicalgenome.org]

  seizures, familial, type 3A Familial hemiplegic migraine-3 SCN1B gene Generalized epilepsy with febrile seizures plus, type 1 Brugada syndrome-5 SCN2A gene Benign familial neonatal-infantile seizures-3 Early infantile epileptic encephalopathy-11 SCN4A [julesberman.blogspot.com]

  seizures plus, type 1, 604233 (3)- SCN1B Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3)- SCN1A Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3)- SCN9A Epilepsy, juvenile myoclonic, susceptibility to, 10, 617924 [rcpa.edu.au]

  […] anemia Fara–Chlupackova syndrome Farber's disease Farmer's lung Fas deficiency Fascioliasis Fatal familial insomnia Fatty liver Faulk–Epstein–Jones syndrome Faye–Petersen–Ward–Carey syndrome Fazio–Londe syndrome Fe Fea–Fer • Fet Fea–Fer Fealty syndrome Febrile [sosu.us]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. [books.google.com]

Adjunctive therapies for treatment of bone and other involvement may be needed. The variable penetrance and expressivity of Gaucher disease significantly impacts the complexity of patient care and genetic counseling. [ommbid.mhmedical.com]

Relevant External Links for CRYAB Genetic Association Database (GAD) CRYAB Human Genome Epidemiology (HuGE) Navigator CRYAB Atlas of Genetics and Cytogenetics in Oncology and Haematology: CRYAB No data available for Genatlas for CRYAB Gene CRYAB promoter [genecards.org]

It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. [books.google.com]

It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [ncbi.nlm.nih.gov]

Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. [mybiosource.com]