Ercc8-related disorders
WebSummary: ERCC excision repair 8, CSA ubiquitin ligase complex subunit Clinical features Help Imported from Human Phenotype Ontology (HPO) Abnormality of the cardiovascular system Abnormality of the digestive system Abnormality of the endocrine system Abnormality of the immune system WebERCC8-Related Disorders (ERCC8) EVC-Related Ellis-Van Creveld Syndrome (EVC) EVC2-Related Ellis-Van Creveld Syndrome (EVC2) Fabry Disease (GLA) Familial Dysautonomia (IKBKAP) Familial Mediterranean Fever (MEFV) Fanconi Anemia Complementation, Group A (FANCA) Fanconi Anemia, FANCC-
Ercc8-related disorders
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WebMay 15, 2012 · The ERCC8 gene is part of the nucleotide excision repair (NER) pathway, a complex system that eliminates a broad spectrum of structural DNA lesions, including ultraviolet (UV)-induced cyclobutane pyrimidine dimers, bulky … WebAutoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence …
WebDISEASE: Defects in ERCC8 are the cause of Cockayne syndrome type A (CSA) . Cockayne syndrome is a rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. Web• ERCC6-Related Disorders (ERCC6) • ERCC8-Related Disorders (ERCC8) • EVC-Related Ellis-Van Creveld Syndrome (EVC) • EVC2-Related Ellis-Van Creveld Syndrome (EVC2) • Fabry Disease (GLA) • Familial Dysautonomia (IKBKAP) • Familial Mediterranean Fever (MEFV) • Fanconi Anemia Complementation, Group A
WebApr 14, 2024 · Cockayne Syndrome Type A (ERCC8) No disease-causing mutations detected. Cockayne Syndrome Type B (ERCC6) No disease-causing mutations detected. ... Menkes Disease and Other ATP7A-Related Disorders, X-Linked (ATP7A) No disease-causing mutations detected. Merosin-Deficient Muscular Dystrophy (LAMA2) WebLuca Proietti-De-Santis, ... Giorgio Prantera, in Chromatin Signaling and Neurological Disorders, 2024. 7.2 Genetics. CS is an autosomal recessive disorder, caused by …
WebJul 1, 2024 · In this study, we reported an atypical CS and discovered the disease-related gene in a large consanguineous family. A novel missense mutation, p.Gly257Arg in …
WebSep 30, 2024 · Autosomal-recessive cerebellar ataxias (ARCAs) are heterogeneous rare disorders mainly affecting the cerebellum and manifest as movement disorders in children and young adults. To date, ARCA causing mutations have been identified in nearly 100 genes; however, they account for less than 50% of all cases. dogezilla tokenomicsWebAug 9, 2024 · Cockayne syndrome (CS) is a rare autosomal recessive multisystem disorder characterized by impaired neurological and sensory functions, cachectic dwarfism, … dog face kaomojiWebDescription Collapse Section Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. doget sinja goricaWebDescription: Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 8 (ERCC8), mRNA. RefSeq Summary (NM_000082): This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. … dog face on pj'sWebMay 15, 2012 · The ERCC8 gene is part of the nucleotide excision repair (NER) pathway, a complex system that eliminates a broad spectrum of structural DNA lesions, including … dog face emoji pnghttp://genome-asia.ucsc.edu/cgi-bin/hgGene?hgg_gene=ENST00000676185.1&hgg_chrom=chr5&hgg_start=60866453&hgg_end=60945070&hgg_type=knownGene&db=hg38 dog face makeupWebNM_000082.4(ERCC8):c.185G>A (p.Gly62Asp) Cite this record. Cite this record Close. Copy. Help Interpretation: Uncertain significance Review status: no assertion criteria provided Submissions: 1 First in ClinVar: ... dog face jedi