AHDS
MCID: ALL001
MIFTS: 47

Allan-Herndon-Dudley Syndrome (AHDS) malady

Neuronal, Endocrine, Muscle categories

Summaries for Allan-Herndon-Dudley Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 47OMIM, 33MalaCards
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Disease Ontology:8 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.

MalaCards: Allan-Herndon-Dudley Syndrome, also known as allan-herndon syndrome, is related to n syndrome and mct8-specific thyroid hormone cell-membrane transporter deficiency, and has symptoms including flat cheek bones/malar hypoplasia, scoliosis and hypereflexia. 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 Transport of organic anions and Amino acid and oligopeptide SLC transporters. The compounds [3h]estrone-3-sulphate and Dextrothyroxine have been mentioned in the context of this disorder. Affiliated tissues include brain and thyroid.

Genetics Home Reference:21 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:47 300523

Aliases & Classifications for Allan-Herndon-Dudley Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Endocrine, Muscle


Characteristics (Orphanet epidemiological data):

49
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 8 9 43 22 21 47 10 49 61
allan-herndon syndrome 8 43 21
ahds 43 49
mct8 -specific thyroid hormone cell transporter deficiency 21
mental retardation, x-linked, with hypotonia 21
monocarboxylate transporter 8 deficiency 21
x-linked intellectual deficit - hypotonia 49
monocarboxylate transporter 8 deficiency 49
monocarboxylate transporter-8 deficiency 43
mental retardation and muscular atrophy 43
mct8 deficiency 49
t3 resisitence 43


External Ids:

Disease Ontology8 DOID:0050631
OMIM47 300523
MESH via Orphanet36 C537047
ICD10 via Orphanet26 E03.1

Related Diseases for Allan-Herndon-Dudley Syndrome

Sources:
17GeneCards, 18GeneDecks
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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
1n syndrome10.7
2mct8-specific thyroid hormone cell-membrane transporter deficiency10.7
3mecp2 duplication syndrome10.7
4pelizaeus-merzbacher disease10.5
5hereditary spastic paraplegia10.5
6alveolar echinococcosis10.0
7hypothyroidism10.0SLC16A2, THRSP

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



Diseases related to allan-herndon-dudley syndrome

Clinical Features for Allan-Herndon-Dudley Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

300523

Clinical synopsis from OMIM:

300523

Symptoms:

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

Drugs & Therapeutics for Allan-Herndon-Dudley Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Allan-Herndon-Dudley Syndrome

Drug clinical trials:

Search ClinicalTrials for Allan-Herndon-Dudley Syndrome

Search NIH Clinical Center for Allan-Herndon-Dudley Syndrome

Search CenterWatch for Allan-Herndon-Dudley Syndrome

Genetic Tests for Allan-Herndon-Dudley Syndrome

Sources:
22GTR
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Genetic tests related to Allan-Herndon-Dudley Syndrome:

id Genetic test Affiliating Genes
1 Allan-herndon-dudley Syndrome22

Anatomical Context for Allan-Herndon-Dudley Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Allan-Herndon-Dudley Syndrome:

33
Brain, Thyroid

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

Sources:
28inGenious Targeting Laboratory
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Publications for Allan-Herndon-Dudley Syndrome

Sources:
51PubMed
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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

Genetic Variations for Allan-Herndon-Dudley Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Allan-Herndon-Dudley Syndrome:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Allan-Herndon-Dudley Syndrome

Sources:
1BioGPS, 15Gene 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

Sources:
54Reactome
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Compounds for genes affiliated with Allan-Herndon-Dudley Syndrome

Sources:
29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 45Novoseek, 60Tocris Bioscience
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Compounds related to Allan-Herndon-Dudley Syndrome according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1[3h]estrone-3-sulphate2910.1SLCO1C1, SLCO4A1
2Dextrothyroxine1110.1SLCO1C1, SLCO4A1
3L-Leucine11 2411.1SLC16A2, SLC16A10
4L-Tyrosine11 2411.0SLC16A10, SLC16A2
5Dinoprostone1110.0SLCO4A1, SLCO1C1
6conjugated estrogens50 1111.0SLCO1C1, SLCO4A1
7Taurocholic Acid11 2410.9SLCO1C1, SLCO4A1
8l-lysine29 11 2411.9SLC16A10, SLC7A3
9Levothyroxine119.9SLC16A2, SLCO4A1, SLCO1C1
10thyroxine45 2410.8SLCO1C1, SLC16A2, THRSP
11l-arginine29 11 2411.8SLC16A10, SLC7A3
12estrone sulfate45 2410.8SLCO1C1, SLCO4A1
13Pyruvic acid11 2410.8SLC16A10, SLC16A2
14l-alanine29 60 11 2412.7SLC36A1, SLC16A10
15beta-alanine45 60 11 2412.7SLC16A10, SLC36A1
16Liothyronine11 2410.7SLCO1C1, SLCO4A1, SLC16A10
17l-tryptophan45 29 11 2412.6SLC16A2, SLC16A10, SLC36A1
18deoxycholic acid45 29 11 2412.5SLCO4A1, VDAC1
19digoxin45 50 60 11 2413.5SLCO1C1, SLCO4A1
20Liotrix119.4SLCO1C1, SLCO4A1, SLC16A10, SLC16A2
21glycine29 11 2411.4SLC16A10, SLC36A1

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

Sources:
16Gene Ontology
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Biological processes related to Allan-Herndon-Dudley Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium-independent organic anion transportGO:0432529.5SLCO1C1, SLCO4A1
2neuron-neuron synaptic transmissionGO:0072709.5VDAC1, CAMK4
3amino acid transportGO:0068659.2SLC36A1, SLC7A3, SLC16A10
4ion transportGO:0068119.2SLC36A1, SLC7A3, SLC16A10
5transmembrane transportGO:0550858.5SLC16A10, SLCO4A1, SLC7A3, SLCO1C1, SLC36A1

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

idNameGO IDScoreTop Affiliating Genes
1symporter activityGO:0152939.7SLC36A1, SLC16A2
2transporter activityGO:0052159.2SLCO1C1, SLCO4A1, SLC16A2

Products for genes affiliated with Allan-Herndon-Dudley Syndrome

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Sources for Allan-Herndon-Dudley Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet