MCID: ALL001
MIFTS: 47

Allan-Herndon-Dudley Syndrome malady

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

Summaries for Allan-Herndon-Dudley Syndrome

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NIH Rare Diseases:41 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 based summary: 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 narrow face, narrow forehead and abnormality of the neck. 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 brain, thyroid and eye.

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: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:45 300523

Aliases & Classifications for Allan-Herndon-Dudley Syndrome

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Allan-Herndon-Dudley Syndrome, Aliases & Descriptions:

Name: Allan-Herndon-Dudley Syndrome 45 9 10 41 21 11 47 22 60
Allan-Herndon Syndrome 9 41 21
X-Linked Intellectual Disability - Hypotonia 41 47
Monocarboxylate Transporter 8 Deficiency 41 47
Mct8 Deficiency 41 47
Ahds 41 47
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency 21
 
Mental Retardation, X-Linked, with Hypotonia 21
X-Linked Mental Retardation with Hypotonia 41
Monocarboxylate Transporter 8 Deficiency 21
Monocarboxylate Transporter-8 Deficiency 41
Mental Retardation and Muscular Atrophy 41
Triiodothyronine Resistence 41
T3 Resisitence 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
allan-herndon-dudley syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: any age


External Ids:

OMIM45 300523
Disease Ontology9 DOID:0050631
Orphanet47 59
MESH via Orphanet34 C537047
ICD10 via Orphanet26 E03.1

Related Diseases for Allan-Herndon-Dudley Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis10.7
2mct8-specific thyroid hormone cell-membrane transporter deficiency10.7
3x-linked intellectual disability - hypotonia - facial dysmorphism - aggressive behavior10.6
4pelizaeus-merzbacher disease10.5
5hereditary spastic paraplegia10.5
6neuronitis10.5
7sensorineural hearing loss10.5
8paraplegia10.5
9spasticity10.5

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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Symptoms by clinical synopsis from OMIM:

300523

Clinical features from OMIM:

300523

Symptoms:

 47 (show all 24)
  • narrow forehead
  • 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
  • mouth held open
  • long/large ear
  • simian crease/transverse/unique palmar crease
  • 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

HPO human phenotypes related to Allan-Herndon-Dudley Syndrome:

(show all 58)
id Description Frequency HPO Source Accession
1 narrow face hallmark (90%) HP:0000275
2 narrow forehead hallmark (90%) HP:0000341
3 abnormality of the neck hallmark (90%) HP:0000464
4 upslanted palpebral fissure hallmark (90%) HP:0000582
5 hyperreflexia hallmark (90%) HP:0001347
6 neurological speech impairment hallmark (90%) HP:0002167
7 incoordination hallmark (90%) HP:0002311
8 amyotrophy hallmark (90%) HP:0003202
9 cheekbone underdevelopment hallmark (90%) HP:0010669
10 cognitive impairment hallmark (90%) HP:0100543
11 open mouth typical (50%) HP:0000194
12 macrotia typical (50%) HP:0000400
13 single transverse palmar crease typical (50%) HP:0000954
14 gait disturbance typical (50%) HP:0001288
15 limitation of joint mobility typical (50%) HP:0001376
16 ptosis occasional (7.5%) HP:0000508
17 proptosis occasional (7.5%) HP:0000520
18 cerebral calcification occasional (7.5%) HP:0002514
19 scoliosis occasional (7.5%) HP:0002650
20 camptodactyly of finger occasional (7.5%) HP:0100490
21 type i diabetes mellitus occasional (7.5%) HP:0100651
22 rotary nystagmus rare (5%) HP:0001583
23 microcephaly HP:0000252
24 narrow forehead HP:0000341
25 abnormality of the pinna HP:0000377
26 prominent antihelix HP:0000395
27 macrotia HP:0000400
28 abnormal conjugate eye movement HP:0000549
29 irritability HP:0000737
30 pectus excavatum HP:0000767
31 hypothyroidism HP:0000821
32 ataxia HP:0001251
33 spastic paraplegia HP:0001258
34 dysarthria HP:0001260
35 neonatal hypotonia HP:0001319
36 hyperreflexia HP:0001347
37 flexion contracture HP:0001371
38 x-linked dominant inheritance HP:0001423
39 abnormality of the rib cage HP:0001547
40 pes planus HP:0001763
41 hallux valgus HP:0001822
42 clonus HP:0002169
43 delayed cns myelination HP:0002188
44 drooling HP:0002307
45 leukodystrophy HP:0002415
46 spastic tetraplegia HP:0002510
47 inability to walk HP:0002540
48 scoliosis HP:0002650
49 thyroid-stimulating hormone excess HP:0002925
50 babinski sign HP:0003487
51 congenital onset HP:0003577
52 generalized amyotrophy HP:0003700
53 intellectual disability, progressive HP:0006887
54 involuntary writhing movements HP:0007316
55 feeding difficulties in infancy HP:0008872
56 intellectual disability, severe HP:0010864
57 severe global developmental delay HP:0011344
58 stahl ear HP:0100015

Drugs & Therapeutics for Allan-Herndon-Dudley Syndrome

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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

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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

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

31
Brain, Thyroid, Eye, 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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Articles related to Allan-Herndon-Dudley Syndrome:

(show all 20)
idTitleAuthorsYear
1
Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome. (25517855)
2015
2
Comment on &quot;Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: Report of a new case and review of the literature&quot; by Azzolini S et al. Brain &amp; Development 2014;36:716-720. (25863745)
2015
3
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss. (25850411)
2015
4
Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations. (25896225)
2015
5
A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3. (25755011)
2015
6
Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. (25380603)
2014
7
Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation. (25160547)
2014
8
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
9
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
10
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution. (23550058)
2013
11
Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: Report of a new case and review of the literature. (24268987)
2013
12
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
13
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
14
Allan-Herndon-Dudley syndrome. (18589880)
2008
15
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. (18398436)
2008
16
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. (17574010)
2007
17
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. (15980113)
2006
18
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. (15889350)
2005
19
Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? (15364700)
2004
20
Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. (1605231)
1992

Variations for Allan-Herndon-Dudley Syndrome

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UniProtKB/Swiss-Prot 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

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

6 (show all 14)
id Gene Variation 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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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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Compounds for genes affiliated with Allan-Herndon-Dudley Syndrome

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Compounds related to Allan-Herndon-Dudley Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1L-Leucine24 1210.7SLC16A10, SLC16A2
2L-Tyrosine24 1210.7SLC16A2, SLC16A10
3Pyruvic acid24 1210.5SLC16A10, SLC16A2
4l-lysine28 24 1211.5SLC16A10, SLC7A3
5l-alanine59 28 24 1212.4SLC16A10, SLC36A1
6beta-alanine43 59 28 24 1213.3SLC36A1, SLC16A10
7l-arginine28 24 1211.3SLC7A3, SLC16A10
8l-tryptophan49 28 43 24 1213.2SLC16A10, SLC16A2, SLC36A1
9glycine28 24 1211.0SLC16A10, SLC36A1

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

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Biological processes related to Allan-Herndon-Dudley Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:00550858.9SLC7A3, SLC16A10, SLC36A1
2amino acid transportGO:00068658.8SLC7A3, SLC16A10, SLC36A1
3ion transportGO:00068118.6SLC7A3, SLC16A10, SLC36A1

Molecular functions related to Allan-Herndon-Dudley Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1symporter activityGO:00152939.6SLC16A2, SLC36A1

Products for genes affiliated with Allan-Herndon-Dudley Syndrome

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Sources for Allan-Herndon-Dudley Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet