ATLD1
MCID: ATX040
MIFTS: 49
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Ataxia-Telangiectasia-Like Disorder 1 (ATLD1)
Categories:
Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
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MalaCards integrated aliases for Ataxia-Telangiectasia-Like Disorder 1:Characteristics:Orphanet epidemiological data:58
ataxia-telangiectasia-like disorder
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
variable severity progressive disorder onset in early childhood HPO:31
ataxia-telangiectasia-like disorder 1:
Inheritance autosomal recessive inheritance Onset and clinical course variable expressivity progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Skin diseases Immune diseases Eye diseases Reproductive diseases Ear diseases Endocrine diseases Blood diseases
Orphanet: 58
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OMIM :
56
Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia-telangiectasia (AT; 208900), but telangiectases and immune deficiency are not present in ATLD1 (summary by Hernandez et al., 1993 and Stewart et al., 1999).
(604391)
MalaCards based summary : Ataxia-Telangiectasia-Like Disorder 1, also known as ataxia-telangiectasia-like disorder, is related to ataxia-telangiectasia and nijmegen breakage syndrome, and has symptoms including dysdiadochokinesis and gait ataxia. An important gene associated with Ataxia-Telangiectasia-Like Disorder 1 is MRE11 (MRE11 Homolog, Double Strand Break Repair Nuclease), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Cell Cycle Checkpoints. Affiliated tissues include eye, skin and brain, and related phenotypes are mask-like facies and dysarthria UniProtKB/Swiss-Prot : 73 Ataxia-telangiectasia-like disorder 1: A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis. |
Human phenotypes related to Ataxia-Telangiectasia-Like Disorder 1:58 31 (show all 41)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:604391UMLS symptoms related to Ataxia-Telangiectasia-Like Disorder 1:dysdiadochokinesis, gait ataxia |
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MalaCards organs/tissues related to Ataxia-Telangiectasia-Like Disorder 1:40
Eye,
Skin,
Brain,
Lung,
B Cells,
Neutrophil
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Articles related to Ataxia-Telangiectasia-Like Disorder 1:(show top 50) (show all 70)
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ClinVar genetic disease variations for Ataxia-Telangiectasia-Like Disorder 1:6 (show top 50) (show all 407)
UniProtKB/Swiss-Prot genetic disease variations for Ataxia-Telangiectasia-Like Disorder 1:73
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Search
GEO
for disease gene expression data for Ataxia-Telangiectasia-Like Disorder 1.
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Pathways related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:(show all 18)
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Cellular components related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:
Biological processes related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:(show all 18)
Molecular functions related to Ataxia-Telangiectasia-Like Disorder 1 according to GeneCards Suite gene sharing:
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