Allan-Herndon-Dudley Syndrome (AHDS)

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Disease Ontology 12 DOID:0050631 OMIM 56 300523 KEGG 36 H00650 MeSH 43 C537047 MESH via Orphanet 44 C537047 ICD10 via Orphanet 33 G31.8

UMLS via Orphanet 72 C0795889 Orphanet 58 ORPHA59 MedGen 41 C0795889 SNOMED-CT via HPO 68 111266001 11934000 122480009 165232002 17944005 18265008 192781003 192965001 192967009 202281000 203534009 203598005 205294008 205530002 246586009 246799009 253252004 262016004 271611007 275295002 275478007 275480001 282145008 298390003 309080005 36649002 366575004 385522000 391987005 40052002 40700009 40930008 415692008 44526006 44913001 46635009 53226007 53827007 55033002 57048009 58593005 62718007 64217002 69056000 72042002 74035001 7890003 8011004 84445001 85102008 86854008 87486003 88565003 95783006 more UMLS 71 C0795889

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

Clinical features from OMIM:

300523

Search NIH Clinical Center for Allan-Herndon-Dudley Syndrome

Search GEO for disease gene expression data for Allan-Herndon-Dudley Syndrome.