AHDS
MCID: ALL001
MIFTS: 51

Allan-Herndon-Dudley Syndrome (AHDS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases categories
Download this MalaCard

Summaries for Allan-Herndon-Dudley Syndrome

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 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: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.

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

About this section
Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:



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 62
allan-herndon syndrome 8 43 21
ahds 43 49
mct8 -specific thyroid hormone cell transporter deficiency 21
x-linked intellectual disability - hypotonia 49
mental retardation, x-linked, with hypotonia 21
x-linked mental retardation with hypotonia 43
monocarboxylate transporter 8 deficiency 21
monocarboxylate transporter 8 deficiency 49
monocarboxylate transporter-8 deficiency 43
mental retardation and muscular atrophy 43
triiodothyronine resistence 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

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
1thyroiditis10.7
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

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

300523

Clinical features from OMIM:

300523

Symptoms:

49 (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

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Allan-Herndon-Dudley Syndrome

Search NIH Clinical Center 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:
33MalaCards
See all sources

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

33
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:
52PubMed
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

Variations for Allan-Herndon-Dudley Syndrome

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Allan-Herndon-Dudley Syndrome:

64
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

About this section
Sources:
2BioGPS, 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:
50PathCards, 30KEGG, 55Reactome
See all sources

Compounds for genes affiliated with Allan-Herndon-Dudley Syndrome

About this section
Sources:
24HMDB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 45Novoseek, 51PharmGKB
See all sources

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

idCompoundScoreTop Affiliating Genes
1L-Leucine24 1110.7SLC16A10, SLC16A2
2L-Tyrosine24 1110.7SLC16A10, SLC16A2
3Pyruvic acid24 1110.5SLC16A10, SLC16A2
4l-alanine61 29 24 1112.4SLC36A1, SLC16A10
5l-lysine29 24 1111.4SLC7A3, SLC16A10
6beta-alanine45 61 29 24 1113.4SLC36A1, SLC16A10
7l-arginine29 24 1111.3SLC16A10, SLC7A3
8l-tryptophan51 29 45 24 1113.2SLC16A10, SLC16A2, SLC36A1
9glycine29 24 1111.0SLC36A1, SLC16A10

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
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Allan-Herndon-Dudley Syndrome

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet