Alpha-Thalassemia/mental Retardation Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Blood diseases, Mental diseases
11Disease Ontology, 12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Alpha-Thalassemia/mental Retardation Syndrome:
Orphanet epidemiological data:53
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal
Penetrance: penetrance is presumed to be 100% in males as atrx pathogenic variants have not been reported in normal males...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Reproductive diseases, Endocrine diseases, Blood diseases, Mental diseases
ICD10: 30 29
Rare neurological diseases
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare haematological diseases
UniProtKB/Swiss-Prot:69 Alpha-thalassemia mental retardation syndrome, X-linked: A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions.
MalaCards based summary: Alpha-Thalassemia/mental Retardation Syndrome, also known as atr-x syndrome, is related to mental retardation-hypotonic facies syndrome, x-linked and mental retardation, x-linked, syndromic 15, and has symptoms including cryptorchidism, male pseudohermaphroditism and ambiguous genitalia. An important gene associated with Alpha-Thalassemia/mental Retardation Syndrome is ATRX (ATRX, Chromatin Remodeler), and among its related pathways are BRCA1 Pathway and ATM Pathway. Affiliated tissues include tongue and kidney, and related mouse phenotypes are embryo and pigmentation.
Disease Ontology:11 An alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21.
Genetics Home Reference:25 Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males.
Description from OMIM:51 301040
GeneReviews for NBK1449
Human phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome:63 53 (show all 96)
UMLS symptoms related to Alpha-Thalassemia/mental Retardation Syndrome:constipation
MalaCards organs/tissues related to Alpha-Thalassemia/mental Retardation Syndrome:35
MGI Mouse Phenotypes related to Alpha-Thalassemia/mental Retardation Syndrome:40
Articles related to Alpha-Thalassemia/mental Retardation Syndrome:(show all 21)
UniProtKB/Swiss-Prot genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome:69 (show all 28)
Clinvar genetic disease variations for Alpha-Thalassemia/mental Retardation Syndrome:5 (show all 18)
Copy number variations for Alpha-Thalassemia/mental Retardation Syndrome from CNVD:6
Search GEO for disease gene expression data for Alpha-Thalassemia/mental Retardation Syndrome.
Pathways related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:
Cellular components related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:(show all 9)
Molecular functions related to Alpha-Thalassemia/mental Retardation Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet