AHDS
MCID: ALL001
MIFTS: 56

Allan-Herndon-Dudley Syndrome (AHDS) malady

Neuronal diseases, Endocrine diseases, Muscle diseases categories

Summaries for Allan-Herndon-Dudley Syndrome

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 thyroiditis and mct8-specific thyroid hormone cell-membrane transporter deficiency, and has symptoms including x-linked recessive inheritance, prominent/bat ears and narrow face. 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 thyroid, brain and bone.

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:46 300523

Aliases & Classifications for Allan-Herndon-Dudley Syndrome

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 22 21 46 10 48 60
allan-herndon syndrome 8 42 21
ahds 42 48
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 48
monocarboxylate transporter 8 deficiency 48
monocarboxylate transporter-8 deficiency 42
mental retardation and muscular atrophy 42
mct8 deficiency 48
t3 resisitence 42


External Ids:

Disease Ontology8 DOID:0050631
OMIM46 300523
MESH via Orphanet35 C537047
ICD10 via Orphanet26 E03.1

Related Diseases for Allan-Herndon-Dudley Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis10.6
2mct8-specific thyroid hormone cell-membrane transporter deficiency10.6
3pelizaeus-merzbacher disease10.5
4hereditary spastic paraplegia10.5
5neuronitis10.5
6paraplegia10.5
7mecp2 duplication syndrome10.5
8alveolar echinococcosis10.0
9hypothyroidism10.0SLC16A2, 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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

300523

Clinical synopsis from OMIM:

300523

Symptoms:

48 (show all 24)
  • 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
  • narrow forehead
  • movement disorder
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • 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
  • flat cheek bones/malar hypoplasia

Drugs & Therapeutics for Allan-Herndon-Dudley Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

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

32
Thyroid, Brain, Bone

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

About this section

Publications for Allan-Herndon-Dudley Syndrome

About this section
Sources:
50PubMed
See all sources

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

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Allan-Herndon-Dudley Syndrome:

62
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

Expression for genes affiliated with Allan-Herndon-Dudley Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome
See all sources

Compounds for genes affiliated with Allan-Herndon-Dudley Syndrome

About this section
Sources:
28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 44Novoseek, 59Tocris Bioscience
See all sources

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

(show all 21)
idCompoundScoreTop Affiliating Genes
1[3h]estrone-3-sulphate2810.1SLCO1C1, SLCO4A1
2Dextrothyroxine1110.1SLCO1C1, SLCO4A1
3L-Leucine11 2411.1SLC16A2, SLC16A10
4L-Tyrosine11 2411.0SLC16A10, SLC16A2
5Dinoprostone1110.0SLCO4A1, SLCO1C1
6conjugated estrogens49 1111.0SLCO1C1, SLCO4A1
7Taurocholic Acid11 2410.9SLCO1C1, SLCO4A1
8l-lysine28 11 2411.9SLC16A10, SLC7A3
9Levothyroxine119.9SLC16A2, SLCO4A1, SLCO1C1
10thyroxine44 2410.8SLCO1C1, SLC16A2, THRSP
11l-arginine28 11 2411.8SLC16A10, SLC7A3
12estrone sulfate44 2410.8SLCO1C1, SLCO4A1
13Pyruvic acid11 2410.8SLC16A10, SLC16A2
14l-alanine28 59 11 2412.7SLC36A1, SLC16A10
15beta-alanine44 59 11 2412.7SLC16A10, SLC36A1
16Liothyronine11 2410.7SLCO1C1, SLCO4A1, SLC16A10
17l-tryptophan44 28 11 2412.6SLC16A2, SLC16A10, SLC36A1
18deoxycholic acid44 28 11 2412.5SLCO4A1, VDAC1
19digoxin44 49 59 11 2413.5SLCO1C1, SLCO4A1
20Liotrix119.4SLCO1C1, SLCO4A1, SLC16A10, SLC16A2
21glycine28 11 2411.4SLC16A10, SLC36A1

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Allan-Herndon-Dudley Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet