MCT8 DEFICIENCY
MCID: ALL001
MIFTS: 46

Allan-Herndon-Dudley Syndrome (MCT8 DEFICIENCY) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Allan-Herndon-Dudley Syndrome

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Aliases & Descriptions for Allan-Herndon-Dudley Syndrome:

Name: Allan-Herndon-Dudley Syndrome 52 11 48 25 70 27 12 13 68
Allan-Herndon Syndrome 11 48 25
Ahds 48 70
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency 25
X-Linked Intellectual Disability with Hypotonia 48
Mental Retardation, X-Linked, with Hypotonia 25
Intellectual Disability and Muscular Atrophy 48
 
Monocarboxylate Transporter 8 Deficiency 25
Monocarboxylate Transporter 8 Deficiency 70
Monocarboxylate Transporter-8 Deficiency 48
Triiodothyronine Resistence 48
Mct8 Deficiency 70
T3 Resisitence 48

Characteristics:

HPO:

64
allan-herndon-dudley syndrome:
Inheritance: x-linked dominant inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 300523
Disease Ontology11 DOID:0050631
MedGen37 C0795889

Summaries for Allan-Herndon-Dudley Syndrome

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UniProtKB/Swiss-Prot:70 Monocarboxylate transporter 8 deficiency: Consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects.

MalaCards based summary: Allan-Herndon-Dudley Syndrome, also known as allan-herndon syndrome, is related to mct8-specific thyroid hormone cell-membrane transporter deficiency and pelizaeus-merzbacher disease, and has symptoms including ataxia, ataxia and clonus. An important gene associated with Allan-Herndon-Dudley Syndrome is SLC16A2 (Solute Carrier Family 16 Member 2), and among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview and Thyroid hormone signaling pathway. Affiliated tissues include thyroid, brain and bone.

NIH Rare Diseases:48 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

Genetics Home Reference:25 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.

Disease Ontology:11 An X-linked disease that has material basis in mutation at is 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.

Description from OMIM:52 300523

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
1mct8-specific thyroid hormone cell-membrane transporter deficiency11.6
2pelizaeus-merzbacher disease11.4
3thyroiditis10.4
4hereditary spastic paraplegia10.3
5sensorineural hearing loss10.3
6paraplegia10.3
7neuronitis10.3
8spasticity10.3
9secondary progressive multiple sclerosis9.8ZMYM3, ZNF711
10choroideremia, deafness, and mental retardation8.9DACH2, MPP3, SLC16A2, SLCO1C1, ZMYM3, ZNF711

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



Diseases related to allan-herndon-dudley syndrome

Symptoms & Phenotypes for Allan-Herndon-Dudley Syndrome

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Symptoms by clinical synopsis from OMIM:

300523

Clinical features from OMIM:

300523

Human phenotypes related to Allan-Herndon-Dudley Syndrome:

 64 (show all 54)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 narrow forehead64 HP:0000341
3 prominent antihelix64 HP:0000395
4 macrotia64 HP:0000400
5 abnormal conjugate eye movement64 HP:0000549
6 irritability64 HP:0000737
7 pectus excavatum64 HP:0000767
8 hypothyroidism64 HP:0000821
9 ataxia64 HP:0001251
10 spastic paraplegia64 HP:0001258
11 dysarthria64 HP:0001260
12 neonatal hypotonia64 HP:0001319
13 hyperreflexia64 HP:0001347
14 flexion contracture64 HP:0001371
15 rotary nystagmus64 HP:0001583
16 pes planus64 HP:0001763
17 hallux valgus64 HP:0001822
18 clonus64 HP:0002169
19 delayed cns myelination64 HP:0002188
20 athetosis64 HP:0002305
21 drooling64 HP:0002307
22 leukodystrophy64 HP:0002415
23 spastic tetraplegia64 HP:0002510
24 inability to walk64 HP:0002540
25 scoliosis64 HP:0002650
26 thyroid-stimulating hormone excess64 HP:0002925
27 babinski sign64 HP:0003487
28 generalized amyotrophy64 HP:0003700
29 intellectual disability, progressive64 HP:0006887
30 underfolded superior helices64 HP:0008583
31 feeding difficulties in infancy64 HP:0008872
32 intellectual disability, severe64 HP:0010864
33 severe global developmental delay64 HP:0011344
34 stahl ear64 HP:0100015
35 urinary incontinence64 HP:0000020
36 open mouth64 HP:0000194
37 narrow face64 HP:0000275
38 protruding ear64 HP:0000411
39 abnormality of the neck64 HP:0000464
40 ptosis64 HP:0000508
41 proptosis64 HP:0000520
42 upslanted palpebral fissure64 HP:0000582
43 absent speech64 HP:0001344
44 joint stiffness64 HP:0001387
45 aphasia64 HP:0002381
46 cerebral calcification64 HP:0002514
47 bowel incontinence64 HP:0002607
48 skeletal muscle atrophy64 HP:0003202
49 biparietal narrowing64 HP:0004422
50 bilateral single transverse palmar creases64 HP:0007598
51 hypoplasia of the musculature64 HP:0009004
52 hypoplasia of the zygomatic bone64 HP:0010669
53 camptodactyly of finger64 HP:0100490
54 type i diabetes mellitus64 HP:0100651

UMLS symptoms related to Allan-Herndon-Dudley Syndrome:


ataxia, clonus

Drugs & Therapeutics for Allan-Herndon-Dudley Syndrome

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Drugs for Allan-Herndon-Dudley Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PseudoephedrineapprovedPhase 262890-82-47028
Synonyms:
( )-Pseudoephedrine
(+) threo-2-(methylamino)-1-phenyl-1-propanol
(+)-(1S,2S)-Pseudoephedrine
(+)-Pseudoephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(1S,2S)-(+)-Pseudoephedrine
(1S,2S)-2-(methylamino)-1-phenylpropan-1-ol
(1S,2S)-2-Methylamino-1-phenyl-1-propanol
(1S,2S)-Pseudoephedrine
(1S,2S)-Pseudoephedrine, polymer-bound
1-Ephedrine
2-(Methylamino)-1-phenyl-1-propanol
287636_ALDRICH
304-87-0
30987-59-8
37577-31-4
649031_ALDRICH
90-82-4
AC-20292
AC1L1NUA
Acunaso
Acunaso (TN)
Afrinol
BIDD:GT0817
BRD-K84175871-003-02-2
BSPBio_003261
Balminil Decongestant Syrup
Benylin Decongestant
Benzenemethanol, alpha-((1S)-1-(methylamino)ethyl)-, (alpha-S)- (9CI)
Besan
C02765
C10H15NO
CHEBI:51209
CHEMBL1590
CID7028
CPD-9954
Cenafed
D-Isoephedrine
D-Pseudoephedrine
D-Pseudoephedrine base
D-Psi-2-Methylamino-1-phenyl-1-propanol
D-Psi-Ephedrine
D08449
DB00852
Decofed
Dimetapp Decongestant
Dimetapp Decongestant Pediatric Drops
DivK1c_000451
Drixoral N.D.
Drixoral Nasal Decongestant
EINECS 202-018-6
Efidac 24 Pseudoephedrine Hcl
Efidac/24
Eltor 120
Ephedrine
Genaphed
HSDB 3177
I01-8928
IDI1_000451
Isoephedrine
KBio1_000451
 
KBio2_001358
KBio2_003926
KBio2_006494
KBio3_002762
KBioGR_001763
KBioSS_001358
L(+)-Psi-Ephedrine
L(+)-psi-Ephedrine
L-(+)-Pseudoephedrine
LS-125922
Lopac-E-3250
Maxenal
MolPort-001-684-474
Myfedrine
NCGC00015408-01
NCGC00178180-01
NCI60_002955
NINDS_000451
Neodurasina
Neodurasina (TN)
Novafed
PDSP1_001347
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoefedrina [INN-Spanish]
Pseudoephedrine
Pseudoephedrine (D)
Pseudoephedrine (INN)
Pseudoephedrine D-form
Pseudoephedrine Ephedrine
Pseudoephedrine [INN:BAN]
Pseudoephedrine d-form
Pseudoephedrinum
Pseudoephedrinum [INN-Latin]
Psi-ephedrin
Psi-ephedrine
Robidrine
SPBio_001365
STOCK1N-42675
Spectrum2_001303
Spectrum3_001771
Spectrum4_001162
Spectrum5_000650
Spectrum_000878
Sudafed
Sudafed Decongestant
Sudafed Decongestant 12 Hour
Sudafed Decongestant Extra Strength
Triaminic AM Decongestant Formula
Triaminic Infant Oral Decongestant Drops
UNII-7CUC9DDI9F
alpha-(1-(Methylamino)ethyl)benzyl alcohol
d-Isoephedrine
d-Pseudoephedrine
d-psi-2-Methylamino-1-phenyl-1-propanol
d-psi-Ephedrine
pseudoéphédrine
trans-Ephedrine
ψ-ephedrine
2
Guaifenesinapproved, vet_approvedPhase 264193-14-13516
Synonyms:
3-(2-Methoxyphenoxy)-1,2-propanediol
3-(O-Methoxyphenoxy)-1,2-propanediol
3-(O-Methoxyphenoxy)-propanediol-1,2
3-O-Methoxyphenoxypropane 1:2-diol
Actifed C
Aeronesin
Amonidren
Amonidrin
Aresol
Benylin-E
Bronchol
Glycerin ether
Glycerin guaiacolate
Glycero-guaiacol ether
Glycerol a-(2-methoxyphenyl) ether
Glycerol a-(O-methoxyphenyl)ether
Glycerol a-guaiacyl ether
Glycerol a-guiacyl ether
Glycerol a-monoguaiacol ether
Glycerol guaiacolate
Glycerol mono(2-methoxyphenyl) ether
Glycerol-a-guajakolether
Glycerol-alpha-guajakolether
Glyceryl guaiacol
Glyceryl guaiacol ether
Glyceryl guaiacolate
Glyceryl guaiacolate ether
Glyceryl guaiacyl ether
Glyceryl guaicolate
Glyceryl guiacolate
 
Glycerylguaiacol
Guaiacol glycerol ether
Guaiacol glyceryl ether
Guaiacolglicerinetere
Guaiacuran
Guaiacurane
Guaiacyl glyceryl ether
Guaiamar
Guaianesin
Guaicol glycerine ether
Guaicol glyceryl ether
Guaifenesin
Guaifenesine
Guaiphenesin
Guaiphenesine
Guaiphesin
Hustosil
Methoxypropanediol
Methphenoxydiol
Metossipropandiolo
O-Methoxyphenyl glyceryl ether
Organidin NR
Pneumomist
Propanosedyl
Reduton
Robitussin
a-Glyceryl guaiacol ether
a-Glyceryl guaiacolate ether
alpha-Glyceryl guaiacol ether
alpha-Glyceryl guaiacolate ether
guaiphenesin
p-Cresyl acetate
3
EphedrineapprovedPhase 2628299-42-39294
Synonyms:
( )-Pseudoephedrine
(+)-Ephedrin
(+)-Ephedrine
(+)-Pseudoephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(+-)-Ephedrine
(-)-Ephedrine
(-)-Pseudoephedrine
(-)-psi-Ephedrine
(-)-threo-Ephedrine
(1R,2R)-Ephedrine
(1R,2S)-1-Phenyl-1-hydroxy-2-methylaminopropane
(1S,2R)-Ephedrine
(L)-EPHEDRINE
--EPHEDRINE
1-EPHEDRINE
1-Sedrin
134910_ALDRICH
287636_ALDRICH
287644_ALDRICH
299-42-3
304-87-0
30987-59-8
321-96-0
321-97-1
321-98-2
37577-31-4
38732-95-5
45261_FLUKA
4607-45-8
50-98-6
50906-05-3
53214-57-6
649031_ALDRICH
6912-63-6
7009-81-6
90-82-4
968-63-8
AC-20231
AC-20292
AC1L1JGK
AC1L1NUA
AC1L1RFA
AC1L1SR1
AC1L1T31
AC1L1Y3M
AC1O8JUO
AC1Q3XJE
AC1Q3XJM
AC1Q3XJN
AC1Q59F5
AC1Q7701
AI3-02761
AKOS000268842
AR-1A0126
AR-1I7143
Acunaso
Acunaso (TN)
Afrinol
Ambap299-42-3
BIDD:GT0817
BRN 3197916
BRN 4231286
BSPBio_001946
BSPBio_001968
BSPBio_003261
Benylin Decongestant
Besan
Biophedrin
C01575
C02765
C10H15NO
CHEBI:15407
CHEBI:51209
CHEMBL1590
CHEMBL211456
CHEMBL357080
CID11972440
CID5032
CID62946
CID6710657
CID7028
CID8650
CID9294
CID9457
CPD-9954
CPDD 0049
Cenafed
D00124
D08449
DB00852
DB01364
Decofed
DivK1c_000181
DivK1c_000451
DivK1c_000461
Drixoral N.D.
EINECS 202-017-0
EINECS 202-018-6
EINECS 206-080-5
EINECS 206-292-8
EINECS 206-293-3
Eciphin
Efedrin
Efidac/24
Eltor 120
Ephedral
Ephedremal
Ephedrin
Ephedrine
Ephedrine (TN)
Ephedrine (USP)
Ephedrine [USAN:BAN]
Ephedrine l-form
Ephedrital
Ephedrol
Ephedrosan
Ephedrotal
Ephedsol
Ephendronal
Ephoxamin
Fedrin
Genaphed
HSDB 3072
HSDB 3177
I-Sedrin
I01-3584
I01-8925
I01-8928
 
IDI1_000181
IDI1_000451
IDI1_000461
Isoephedrine
Jsp005664
KBio1_000181
KBio1_000451
KBio1_000461
KBio2_001358
KBio2_001500
KBio2_003926
KBio2_004068
KBio2_006494
KBio2_006636
KBio3_001188
KBio3_001446
KBio3_002762
KBioGR_001013
KBioGR_001763
KBioSS_001358
KBioSS_001500
KST-1A9168
Kratedyn
L(+)-psi-Ephedrine
L(-)-Ephedrine
L-(+)-Ephedrine
L-(-)-Ephedrine
L-Ephedrine
L-erythro-2-(Methylamino)-1-phenylpropan-1-ol
L000968
LS-125921
LS-125922
LS-43083
LS-63961
LS-63962
LS-63963
LS-63964
Lexofedrin
Lopac-E-3250
Lopac0_000501
MLS000069657
Manadrin
Mandrin
Maxenal
MolPort-001-684-474
MolPort-001-684-477
MolPort-001-684-478
MolPort-001-684-479
MolPort-001-769-085
Myfedrine
NCGC00015408-01
NCGC00015408-02
NCGC00162174-01
NCGC00178180-01
NCGC00178889-01
NCI-C55652
NCI60_002955
NINDS_000181
NINDS_000451
NINDS_000461
NSC 165609
NSC 170951
NSC 8971
NSC165609
NSC170951
NSC8971
Nasol
Neodurasina
Neodurasina (TN)
Oprea1_287330
PDSP1_000168
PDSP1_001106
PDSP1_001343
PDSP1_001345
PDSP1_001346
PDSP1_001347
PDSP2_000167
PDSP2_001090
PDSP2_001327
PDSP2_001329
PDSP2_001330
PDSP2_001331
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoephedrine (D)
Pseudoephedrinum
Psi-ephedrin
Psi-ephedrine
Robidrine
SMR000059174
SPBio_000214
SPBio_001365
SPBio_001377
ST023802
STK367993
STOCK1N-42675
Sanedrine
Spectrum2_000137
Spectrum2_001303
Spectrum2_001309
Spectrum3_000414
Spectrum3_000563
Spectrum3_001771
Spectrum4_000497
Spectrum4_001162
Spectrum5_000650
Spectrum5_000879
Spectrum5_001106
Spectrum_000878
Spectrum_001020
Sudafed
Sudafed Decongestant
UNII-03VRY66076
UNII-7CUC9DDI9F
UNII-GN83C131XS
Vencipon
WLN: QYR & Y1 & M1
WLN: QYR&Y1&M1
Zephrol
d-Ephedrine
d-Isoephedrine
d-Pseudoephedrine
d-psi-Ephedrine
l-Ephedrine
l-Pseudoephedrine
racephedrine
trans-Ephedrine
4Neurotransmitter AgentsPhase 218340
5Nasal DecongestantsPhase 2598
6Peripheral Nervous System AgentsPhase 223689
7Adrenergic AgonistsPhase 23027
8Vasoconstrictor AgentsPhase 22122
9Respiratory System AgentsPhase 24997
10HormonesPhase 214415
11Adrenergic alpha-AgonistsPhase 21734
12Autonomic AgentsPhase 210150
13Appetite DepressantsPhase 2157
14
ChlorpheniraminePhase 269113-92-8, 132-22-92725
Synonyms:
1-(p-Chlorophenyl)-1-(2-pyridyl)-3-N,N-dimethylpropylamine
1-(p-Chlorophenyl)-1-(2-pyridyl)-3-dimethylaminopropane
113-92-8
132-22-9
2-(p-Chloro-alpha-(2-(dimethylamino)ethyl)benzyl)pyridine
3-(4-chlorophenyl)-N,N-dimethyl-3-(pyridin-2-yl)propan-1-amine
3-(4-chlorophenyl)-N,N-dimethyl-3-pyridin-2-ylpropan-1-amine
3-(p-Chlorophenyl)-3-(2-pyridyl)-N,N-dimethylpropylamine
4-Chloropheniramine
42882-96-2
46970-45-0
AC1L1EBQ
AKOS001650136
Aller-Chlor
Allergican
Allergisan
Antagonate
BPBio1_000148
BRD-A04553218-050-03-0
BSPBio_000134
C06905
C16H19ClN2
CHEBI:52010
CHEMBL505
CHLORPHENIRAMINE (SEE ALSO: CHLORPHENIRAMINE MALEATE (CAS113-92-8))
CID2725
Chlo-amine
Chlor-Pro
Chlor-Trimeton Repetabs
Chlor-trimeton
Chloropheniramine
Chloropheniramine maleate
Chlorophenylpyridamin
Chlorophenylpyridamine
Chloropiril
Chloroprophenpyridamine
Chlorphenamine
Chlorphenamine (INN)
Chlorphenamine Maleate
Chlorphenamine [INN]
Chlorphenamine hydrogen maleate
Chlorphenaminum
Chlorphenaminum [INN-Latin]
Chlorpheniaramine maleate
Chlorpheniramine
Chlorpheniramine Maleate
Chlorpheniraminum
Chlorprophenpyridamine
 
Clofeniramina
Clofeniramina (TN)
Clorfenamina
Clorfenamina [INN-Spanish]
Clorfeniramina
Clorfeniramina [Italian]
Cloropiril
D07398
DB01114
DivK1c_000596
EINECS 205-054-0
Gen-Allerate
HMS2090M21
HSDB 3032
Haynon
Hayon
Histadur
IDI1_000596
ISOCLOR
KBio1_000596
Kloromin
L000003
LS-754
Lopac0_000261
MolPort-002-507-837
NCGC00015227-05
NCGC00162108-01
NINDS_000596
Novo-Pheniram
Oprea1_779072
Pediacare Allergy Formula
Phenetron
PiriIton
Piriton
Polaronil
Prestwick0_000117
Prestwick1_000117
Prestwick2_000117
Prestwick3_000117
SPBio_002073
STK736174
STOCK5S-99837
Telachlor
Teldrin
UNII-3U6IO1965U
[3H]Chlorpheniramine
chlorpheniramine
gamma-(4-Chlorophenyl)-N,N-dimethyl-2-pyridinepropanamine
gamma-(4-Chlorophenyl)-gamma-(2-pyridyl)propyldimethylamine
15Chlorpheniramine, phenylpropanolamine drug combinationPhase 2641
16ExpectorantsPhase 2404
17Adrenergic AgentsPhase 25352
18Anti-Obesity AgentsPhase 2413

Interventional clinical trials:

idNameStatusNCT IDPhase
1Triac Trial in MCT8 PatientsActive, not recruitingNCT02060474Phase 2
2Triac Trial II in MCT8 PatientsNot yet recruitingNCT02396459Phase 2

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 Syndrome27

Anatomical Context for Allan-Herndon-Dudley Syndrome

About this section

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

36
Thyroid, Brain, Bone, Skeletal muscle, Eye

Publications for Allan-Herndon-Dudley Syndrome

About this section

Articles related to Allan-Herndon-Dudley Syndrome:

(show all 25)
idTitleAuthorsYear
1
The Chemical Chaperone Phenylbutyrate Rescues MCT8 Mutations Associated With Milder Phenotypes in Patients With Allan-Herndon-Dudley Syndrome. (27977298)
2017
2
Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. (27672545)
2016
3
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. (27805744)
2016
4
Comment on "Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: Report of a new case and review of the literature" by Azzolini S et al. Brain & Development 2014;36:716-720. (25863745)
2015
5
Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. (26426690)
2015
6
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss. (25850411)
2015
7
Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome. (25517855)
2015
8
Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations. (25896225)
2015
9
A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3. (25755011)
2015
10
Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. (25380603)
2014
11
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome. (27081503)
2014
12
Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation. (25160547)
2014
13
Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: Report of a new case and review of the literature. (24268987)
2013
14
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution. (23550058)
2013
15
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
16
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
17
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
18
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
19
Allan-Herndon-Dudley syndrome. (18589880)
2008
20
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. (18398436)
2008
21
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. (17574010)
2007
22
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. (15980113)
2006
23
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. (15889350)
2005
24
Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? (15364700)
2004
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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:

70 (show all 20)
id Symbol AA change Variation ID SNP ID
1SLC16A2p.Ala150ValVAR_022348rs104894936
2SLC16A2p.Leu397ProVAR_022349rs122455132
3SLC16A2p.Leu438ProVAR_022350rs104894931
4SLC16A2p.Ser120PheVAR_059054rs113994162
5SLC16A2p.Val161MetVAR_059056
6SLC16A2p.Leu360TrpVAR_059057rs104894939
7SLC16A2p.Gly490ArgVAR_059059rs794727799
8SLC16A2p.Leu494ProVAR_059060rs104894938
9SLC16A2p.Gly147ArgVAR_074572
10SLC16A2p.Ala150ThrVAR_074573rs373279555
11SLC16A2p.Arg197HisVAR_074574rs727504155
12SLC16A2p.Gly208CysVAR_074575
13SLC16A2p.Pro247LeuVAR_074576
14SLC16A2p.Arg371CysVAR_074577rs587784384
15SLC16A2p.Asp379ValVAR_074578
16SLC16A2p.Pro463LeuVAR_074579
17SLC16A2p.Gly484AspVAR_074580
18SLC16A2p.Ser216PheVAR_075145rs398124232
19SLC16A2p.Leu217ArgVAR_078497
20SLC16A2p.Gly490GluVAR_078498

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

5 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC16A2NM_ 006517.4(SLC16A2): c.1313T> C (p.Leu438Pro)SNVPathogenicrs104894931GRCh37Chr X, 73749190: 73749190
2SLC16A2SLC16A2, 1-BP DEL, 1212TdeletionPathogenic
3SLC16A2NM_ 006517.4(SLC16A2): c.449C> T (p.Ala150Val)SNVPathogenicrs104894936GRCh37Chr X, 73740843: 73740843
4SLC16A2SLC16A2, EX1DELdeletionPathogenic
5SLC16A2NM_ 006517.4(SLC16A2): c.1190T> C (p.Leu397Pro)SNVPathogenicrs122455132GRCh37Chr X, 73749067: 73749067
6SLC16A2nsv513796deletionPathogenic
7SLC16A2NM_ 006517.4(SLC16A2): c.1481T> C (p.Leu494Pro)SNVPathogenicrs104894938GRCh37Chr X, 73751249: 73751249
8SLC16A2NM_ 006517.4(SLC16A2): c.1079T> G (p.Leu360Trp)SNVPathogenicrs104894939GRCh37Chr X, 73745637: 73745637
9SLC16A2NM_ 006517.4(SLC16A2): c.1121C> A (p.Ser374Ter)SNVPathogenicrs104894940GRCh37Chr X, 73745679: 73745679
10SLC16A2NM_ 006517.4(SLC16A2): c.461_ 463delTCT (p.Phe156del)deletionPathogenic/ Likely pathogenicrs387906501GRCh38Chr X, 74521026: 74521028
11SLC16A2NM_ 006517.4(SLC16A2): c.1612delC (p.Pro538Glnfs)deletionPathogenicrs113994166GRCh37Chr X, 73751380: 73751380
12SLC16A2NM_ 006517.4(SLC16A2): c.916C> T (p.Gln306Ter)SNVPathogenicrs587784382GRCh37Chr X, 73744534: 73744534
13SLC16A2NM_ 006517.4(SLC16A2): c.979G> A (p.Gly327Arg)SNVLikely pathogenicrs587784383GRCh37Chr X, 73744597: 73744597
14SLC16A2NM_ 006517.4(SLC16A2): c.1111C> T (p.Arg371Cys)SNVPathogenic/ Likely pathogenicrs587784384GRCh37Chr X, 73745669: 73745669
15SLC16A2NM_ 006517.4(SLC16A2): c.277C> T (p.Gln93Ter)SNVPathogenicrs587784386GRCh37Chr X, 73641749: 73641749
16SLC16A2NM_ 006517.4(SLC16A2): c.449C> A (p.Ala150Glu)SNVLikely pathogenicrs104894936GRCh37Chr X, 73740843: 73740843
17SLC16A2NM_ 006517.4(SLC16A2): c.326G> A (p.Trp109Ter)SNVPathogenicrs794726932GRCh37Chr X, 73641798: 73641798
18SLC16A2NM_ 006517.4(SLC16A2): c.353A> C (p.His118Pro)SNVLikely pathogenicrs794726933GRCh37Chr X, 73641825: 73641825
19SLC16A2NM_ 006517.4(SLC16A2): c.940C> T (p.Arg314Ter)SNVPathogenicrs766773277GRCh38Chr X, 74524723: 74524723
20SLC16A2NM_ 006517.4(SLC16A2): c.1392dupC (p.Ile465Hisfs)duplicationPathogenicrs797045962GRCh38Chr X, 74529434: 74529434
21SLC16A2NM_ 006517.4(SLC16A2): c.1474_ 1481delGTAATCCT (p.Val492Leufs)deletionPathogenicrs797045963GRCh37Chr X, 73751242: 73751249
22SLC16A2NM_ 006517.4(SLC16A2): c.256delC (p.Arg86Alafs)deletionPathogenicrs797045965GRCh37Chr X, 73641728: 73641728
23SLC16A2NM_ 006517.4(SLC16A2): c.374delA (p.Tyr125Serfs)deletionPathogenicrs797045966GRCh37Chr X, 73641846: 73641846
24SLC16A2NM_ 006517.4(SLC16A2): c.1278_ 1280delCTT (p.Phe427del)deletionPathogenicrs113994164GRCh37Chr X, 73749155: 73749157
25SLC16A2NM_ 006517.4(SLC16A2): c.359C> T (p.Ser120Phe)SNVPathogenicrs113994162GRCh37Chr X, 73641831: 73641831
26SLC16A2NM_ 006517.4(SLC16A2): c.576-1G> ASNVPathogenicrs886042238GRCh37Chr X, 73744193: 73744193
27SLC16A2NM_ 006517.4(SLC16A2): c.1253T> C (p.Leu418Pro)SNVPathogenicrs367543059GRCh37Chr 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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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
1sodium-independent organic anion transportGO:00432529.8SLC16A2, SLCO1C1
2thyroid hormone transportGO:00703279.6SLC16A2, SLCO1C1

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

idNameGO IDScoreTop Affiliating Genes
1thyroid hormone transmembrane transporter activityGO:00153499.6SLC16A2, SLCO1C1

Sources for Allan-Herndon-Dudley Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet