AHDS
MCID: ALL001
MIFTS: 56
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Allan-Herndon-Dudley Syndrome (AHDS)
Categories:
Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Allan-Herndon-Dudley Syndrome:
Characteristics:Orphanet epidemiological data:58
allan-herndon-dudley syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: any age; OMIM:56
Miscellaneous:
onset at birth heterozygous females may have milder thyroid phenotype and no neurologic abnormalities no peripheral signs of hypothyroidism
Inheritance:
x-linked HPO:31
allan-herndon-dudley syndrome:
Onset and clinical course congenital onset Inheritance x-linked dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Endocrine diseases
ICD10:
33
Orphanet: 58
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Genetics Home Reference :
25
Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people.
Most children with Allan-Herndon-Dudley syndrome have weak muscle tone (hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they get older, they usually develop joint deformities called contractures, which restrict the movement of certain joints. Abnormal muscle stiffness (spasticity), muscle weakness, and involuntary movements of the arms and legs also limit mobility. As a result, many people with Allan-Herndon-Dudley syndrome are unable to walk independently and become wheelchair-bound by adulthood.
MalaCards based summary : Allan-Herndon-Dudley Syndrome, also known as ahds, is related to pelizaeus-merzbacher-like disease and hyperthyroidism, and has symptoms including ataxia and clonus. An important gene associated with Allan-Herndon-Dudley Syndrome is SLC16A2 (Solute Carrier Family 16 Member 2), and among its related pathways/superpathways are Angiopoietin Like Protein 8 Regulatory Pathway and Transport of vitamins, nucleosides, and related molecules. The drugs Guaifenesin and Hormones have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and eye, and related phenotypes are intellectual disability, severe and ataxia Disease Ontology : 12 A syndrome that has material basis in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. NIH Rare Diseases : 52 Allan-Herndon-Dudley syndrome is a disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have speech and a limited ability to communicate, they seem to enjoy interaction with others. Allan-Herndon-Dudley syndrome is caused by mutations in the SLC16A2 gene . It is inherited in an X-linked recessive manner. OMIM : 56 Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. In severe cases, patients never gain the ability to walk or talk (summary by Maranduba et al., 2006). (300523) KEGG : 36 Allan-Herndon-Dudley syndrome (AHDS) is an X-linked mental retardation syndrome with neuromuscular involvement characterized by hypotonia, muscular hypoplasia and intellectual deficit. AHDS is caused by mutations in the SLC16A2 gene, encoding MCT8 which is a specific transporter for thyroid hormone T3. UniProtKB/Swiss-Prot : 73 Monocarboxylate transporter 8 deficiency: Consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects. Wikipedia : 74 Allan-Herndon-Dudley syndrome is a rare X-linked inherited disorder of brain development that causes... more...
GeneReviews:
NBK26373
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Human phenotypes related to Allan-Herndon-Dudley Syndrome:58 31 (show top 50) (show all 56)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:300523UMLS symptoms related to Allan-Herndon-Dudley Syndrome:ataxia, clonus |
Drugs for Allan-Herndon-Dudley Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: allan-herndon-dudley syndrome |
MalaCards organs/tissues related to Allan-Herndon-Dudley Syndrome:40
Thyroid,
Brain,
Eye,
Skeletal Muscle,
Bone,
Heart,
Liver
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Articles related to Allan-Herndon-Dudley Syndrome:(show top 50) (show all 214)
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ClinVar genetic disease variations for Allan-Herndon-Dudley Syndrome:6 (show all 39)
UniProtKB/Swiss-Prot genetic disease variations for Allan-Herndon-Dudley Syndrome:73 (show all 20)
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Search
GEO
for disease gene expression data for Allan-Herndon-Dudley Syndrome.
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Pathways related to Allan-Herndon-Dudley Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Allan-Herndon-Dudley Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Allan-Herndon-Dudley Syndrome according to GeneCards Suite gene sharing:(show all 21)
Molecular functions related to Allan-Herndon-Dudley Syndrome according to GeneCards Suite gene sharing:
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