AHDS
MCID: ALL001
MIFTS: 51

Allan-Herndon-Dudley Syndrome (AHDS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases categories

Summaries for Allan-Herndon-Dudley Syndrome

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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.  last updated: 6/12/2014

MalaCards: Allan-Herndon-Dudley Syndrome, also known as allan-herndon syndrome, is related to thyroiditis and mct8-specific thyroid hormone cell-membrane transporter deficiency, and has symptoms including abnormal gait, restricted joint mobility/joint stiffness/ankylosis and proptosis/exophthalmos. An important gene associated with Allan-Herndon-Dudley Syndrome is SLC16A2 (solute carrier family 16, member 2 (thyroid hormone transporter)), and among its related pathways are Thyroid hormone signaling pathway and Protein digestion and absorption. The compounds L-Leucine and L-Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and bone.

Disease Ontology:9 An x-linked disease that is caused by mutation 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.

Genetics Home Reference:22 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.

Description from OMIM:48 300523

Aliases & Classifications for Allan-Herndon-Dudley Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
allan-herndon-dudley syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

allan-herndon-dudley syndrome 9 10 44 23 22 48 11 50 63
allan-herndon syndrome 9 44 22
ahds 44 50
mct8 -specific thyroid hormone cell transporter deficiency 22
x-linked intellectual disability - hypotonia 50
mental retardation, x-linked, with hypotonia 22
x-linked mental retardation with hypotonia 44
monocarboxylate transporter 8 deficiency 22
monocarboxylate transporter 8 deficiency 50
monocarboxylate transporter-8 deficiency 44
mental retardation and muscular atrophy 44
triiodothyronine resistence 44
mct8 deficiency 50
t3 resisitence 44


External Ids:

Disease Ontology9 DOID:0050631
OMIM48 300523
MESH via Orphanet37 C537047
ICD10 via Orphanet27 E03.1

Related Diseases for Allan-Herndon-Dudley Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Allan-Herndon-Dudley Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis10.7
2mct8-specific thyroid hormone cell-membrane transporter deficiency10.7
3neuronitis10.5
4hereditary spastic paraplegia10.5
5pelizaeus-merzbacher disease10.5
6paraplegia10.5
7mecp2 duplication syndrome10.5
8spasticity10.5
9x-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior10.5
10alveolar echinococcosis10.0

Graphical network of diseases related to Allan-Herndon-Dudley Syndrome:



Diseases related to allan-herndon-dudley syndrome

Symptoms for Allan-Herndon-Dudley Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

300523

Clinical features from OMIM:

300523

Symptoms:

50 (show all 24)
  • abnormal gait
  • restricted joint mobility/joint stiffness/ankylosis
  • proptosis/exophthalmos
  • ptosis
  • prominent/bat ears
  • scoliosis
  • camptodactyly of fingers
  • insulin-dependent/type 1 diabetes
  • intracranial/cerebral calcifications
  • simian crease/transverse/unique palmar crease
  • long/large ear
  • mouth held open
  • narrow face
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • flat cheek bones/malar hypoplasia
  • anomalies of the neck
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • hypereflexia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • x-linked recessive inheritance
  • narrow forehead

Drugs & Therapeutics for Allan-Herndon-Dudley Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Allan-Herndon-Dudley Syndrome

Genetic Tests for Allan-Herndon-Dudley Syndrome

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23GTR
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Genetic tests related to Allan-Herndon-Dudley Syndrome:

id Genetic test Affiliating Genes
1 Allan-Herndon-Dudley Syndrome23

Anatomical Context for Allan-Herndon-Dudley Syndrome

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34MalaCards
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MalaCards organs/tissues related to Allan-Herndon-Dudley Syndrome:

34
Thyroid, Brain, Bone

Animal Models for Allan-Herndon-Dudley Syndrome or affiliated genes

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Publications for Allan-Herndon-Dudley Syndrome

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53PubMed
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Articles related to Allan-Herndon-Dudley Syndrome:

(show all 13)
idTitleAuthorsYear
1
Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels. (23419639)
2013
2
A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome. (24170966)
2013
3
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution. (23550058)
2013
4
Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: Report of a new case and review of the literature. (24268987)
2013
5
Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH. (20713192)
2010
6
Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome. (19641107)
2009
7
Allan-Herndon-Dudley syndrome. (18589880)
2008
8
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. (18398436)
2008
9
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. (17574010)
2007
10
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. (15980113)
2006
11
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. (15889350)
2005
12
Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? (15364700)
2004
13
Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. (1605231)
1992

Variations for Allan-Herndon-Dudley Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Allan-Herndon-Dudley Syndrome:

65
id Symbol AA change Variation ID SNP ID
1SLC16A2p.Ala150ValVAR_022348
2SLC16A2p.Leu397ProVAR_022349
3SLC16A2p.Leu438ProVAR_022350
4SLC16A2p.Ser120PheVAR_059054
5SLC16A2p.Val161MetVAR_059056
6SLC16A2p.Leu360TrpVAR_059057
7SLC16A2p.Gly490ArgVAR_059059
8SLC16A2p.Leu494ProVAR_059060

Clinvar genetic disease variations for Allan-Herndon-Dudley Syndrome:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1SLC16A2NM_006517.4(SLC16A2): c.1313T> C (p.Leu438Pro)single nucleotide variantPathogenicrs104894931GRCh37Chr X, 73749190: 73749190
2SLC16A2SLC16A2, 1-BP DEL, 1212TdeletionPathogenic
3SLC16A2NM_006517.4(SLC16A2): c.449C> T (p.Ala150Val)single nucleotide variantPathogenicrs104894936GRCh37Chr X, 73740843: 73740843
4SLC16A2SLC16A2, EX1DELdeletionPathogenic
5SLC16A2NM_006517.4(SLC16A2): c.1190T> C (p.Leu397Pro)single nucleotide variantPathogenicrs122455132GRCh37Chr X, 73749067: 73749067
6SLC16A2nsv513796deletionPathogenic
7SLC16A2NM_006517.4(SLC16A2): c.1481T> C (p.Leu494Pro)single nucleotide variantPathogenicrs104894938GRCh37Chr X, 73751249: 73751249
8SLC16A2NM_006517.4(SLC16A2): c.1079T> G (p.Leu360Trp)single nucleotide variantPathogenicrs104894939GRCh37Chr X, 73745637: 73745637
9SLC16A2NM_006517.4(SLC16A2): c.1121C> A (p.Ser374Ter)single nucleotide variantPathogenicrs104894940GRCh37Chr X, 73745679: 73745679
10SLC16A2NM_006517.4(SLC16A2): c.461_463delTCT (p.Phe156del)deletionPathogenicrs387906501GRCh38Chr X, 74521026: 74521028
11SLC16A2NM_006517.4(SLC16A2): c.1612delC (p.Pro538Glnfs)deletionPathogenicrs113994166GRCh37Chr X, 73751380: 73751380
12SLC16A2NM_006517.4(SLC16A2): c.1278_1280delCTT (p.Phe427del)deletionPathogenicrs113994164GRCh37Chr X, 73749155: 73749157
13SLC16A2NM_006517.4(SLC16A2): c.359C> T (p.Ser120Phe)single nucleotide variantPathogenicrs113994162GRCh37Chr X, 73641831: 73641831
14SLC16A2NM_006517.4(SLC16A2): c.1253T> C (p.Leu418Pro)single nucleotide variantPathogenicrs367543059GRCh37Chr X, 73749130: 73749130

Expression for genes affiliated with Allan-Herndon-Dudley Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Allan-Herndon-Dudley Syndrome

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

Pathways for genes affiliated with Allan-Herndon-Dudley Syndrome

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51PathCards, 31KEGG, 56Reactome
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Compounds for genes affiliated with Allan-Herndon-Dudley Syndrome

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25HMDB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 46Novoseek, 52PharmGKB
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Compounds related to Allan-Herndon-Dudley Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1L-Leucine25 1210.7SLC16A10, SLC16A2
2L-Tyrosine25 1210.7SLC16A10, SLC16A2
3Pyruvic acid25 1210.5SLC16A10, SLC16A2
4l-alanine62 30 25 1212.4SLC36A1, SLC16A10
5l-lysine30 25 1211.4SLC7A3, SLC16A10
6beta-alanine46 62 30 25 1213.4SLC36A1, SLC16A10
7l-arginine30 25 1211.3SLC16A10, SLC7A3
8l-tryptophan52 30 46 25 1213.2SLC16A10, SLC16A2, SLC36A1
9glycine30 25 1211.0SLC36A1, SLC16A10

GO Terms for genes affiliated with Allan-Herndon-Dudley Syndrome

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17Gene Ontology
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Biological processes related to Allan-Herndon-Dudley Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:0550858.9SLC7A3, SLC16A10, SLC36A1
2amino acid transportGO:0068658.8SLC7A3, SLC16A10, SLC36A1
3ion transportGO:0068118.6SLC7A3, SLC16A10, SLC36A1

Molecular functions related to Allan-Herndon-Dudley Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1symporter activityGO:0152939.6SLC16A2, SLC36A1

Products for genes affiliated with Allan-Herndon-Dudley Syndrome

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  • Antibodies
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  • Lysates
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Sources for Allan-Herndon-Dudley Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet