MCID: ALL001
MIFTS: 47

Allan-Herndon-Dudley Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases

Aliases & Classifications for Allan-Herndon-Dudley Syndrome

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Aliases & Descriptions for Allan-Herndon-Dudley Syndrome:

Name: Allan-Herndon-Dudley Syndrome 51 11 47 25 53 69 26 12 13 67
Allan-Herndon Syndrome 11 47 25
Ahds 47 53 69
Monocarboxylate Transporter 8 Deficiency 53 69
Mct8 Deficiency 53 69
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency 25
X-Linked Intellectual Disability-Hypotonia Syndrome 53
 
X-Linked Intellectual Disability with Hypotonia 47
Mental Retardation, X-Linked, with Hypotonia 25
Intellectual Disability and Muscular Atrophy 47
Monocarboxylate Transporter 8 Deficiency 25
Monocarboxylate Transporter-8 Deficiency 47
Triiodothyronine Resistence 47
T3 Resisitence 47

Characteristics:

Orphanet epidemiological data:

53
allan-herndon-dudley syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: any age

HPO:

63
allan-herndon-dudley syndrome:
Inheritance: x-linked dominant inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM51 300523
Disease Ontology11 DOID:0050631
Orphanet53 ORPHA59
MESH via Orphanet39 C537047
ICD10 via Orphanet30 E03.1
MedGen36 C0795889

Summaries for Allan-Herndon-Dudley Syndrome

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UniProtKB/Swiss-Prot:69 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 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), and among its related pathways are Blood-Brain Barrier Pathway: Anatomy and Thyroid hormone signaling pathway. Affiliated tissues include thyroid, brain and bone.

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.

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.

NIH Rare Diseases:47 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

Description from OMIM:51 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
3thyroiditis10.5
4hereditary spastic paraplegia10.3
5sensorineural hearing loss10.3
6paraplegia10.3
7neuronitis10.3
8spasticity10.3
9zollinger-ellison syndrome9.5ZMYM3, ZNF711
10choroideremia, deafness, and mental retardation7.6DACH2, MPP3, SLC16A2, SLCO1C1, ZMYM3, ZNF711

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

Human phenotypes related to Allan-Herndon-Dudley Syndrome:

 63 53 (show all 60)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow face63 53 hallmark (90%) Very frequent (99-80%) HP:0000275
2 narrow forehead63 hallmark (90%) HP:0000341
3 abnormality of the neck63 53 hallmark (90%) Very frequent (99-80%) HP:0000464
4 upslanted palpebral fissure63 53 hallmark (90%) Very frequent (99-80%) HP:0000582
5 hyperreflexia63 53 hallmark (90%) Very frequent (99-80%) HP:0001347
6 neurological speech impairment63 hallmark (90%) HP:0002167
7 incoordination63 hallmark (90%) HP:0002311
8 skeletal muscle atrophy63 hallmark (90%) HP:0003202
9 hypoplasia of the zygomatic bone63 hallmark (90%) HP:0010669
10 cognitive impairment63 hallmark (90%) HP:0100543
11 open mouth63 53 typical (50%) Frequent (79-30%) HP:0000194
12 macrotia63 53 typical (50%) Frequent (79-30%) HP:0000400
13 single transverse palmar crease63 typical (50%) HP:0000954
14 gait disturbance63 53 typical (50%) Frequent (79-30%) HP:0001288
15 limitation of joint mobility63 typical (50%) HP:0001376
16 ptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000508
17 proptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000520
18 cerebral calcification63 53 occasional (7.5%) Occasional (29-5%) HP:0002514
19 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
20 camptodactyly of finger63 53 occasional (7.5%) Occasional (29-5%) HP:0100490
21 type i diabetes mellitus63 53 occasional (7.5%) Occasional (29-5%) HP:0100651
22 rotary nystagmus63 rare (5%) HP:0001583
23 microcephaly63 HP:0000252
24 prominent antihelix63 HP:0000395
25 abnormal conjugate eye movement63 HP:0000549
26 irritability63 HP:0000737
27 pectus excavatum63 HP:0000767
28 hypothyroidism63 HP:0000821
29 ataxia63 53 Very frequent (99-80%) HP:0001251
30 spastic paraplegia63 HP:0001258
31 dysarthria63 HP:0001260
32 neonatal hypotonia63 HP:0001319
33 flexion contracture63 HP:0001371
34 abnormality of the rib cage63 HP:0001547
35 pes planus63 HP:0001763
36 hallux valgus63 HP:0001822
37 clonus63 HP:0002169
38 delayed cns myelination63 HP:0002188
39 drooling63 HP:0002307
40 leukodystrophy63 HP:0002415
41 spastic tetraplegia63 HP:0002510
42 inability to walk63 53 Very frequent (99-80%) HP:0002540
43 thyroid-stimulating hormone excess63 HP:0002925
44 babinski sign63 HP:0003487
45 generalized amyotrophy63 HP:0003700
46 intellectual disability, progressive63 53 Very frequent (99-80%) HP:0006887
47 obsolete involuntary writhing movements63 HP:0007316
48 feeding difficulties in infancy63 HP:0008872
49 intellectual disability, severe63 53 Very frequent (99-80%) HP:0010864
50 severe global developmental delay63 53 Very frequent (99-80%) HP:0011344
51 stahl ear63 HP:0100015
52 protruding ear53 Occasional (29-5%)
53 absent speech53 Very frequent (99-80%)
54 joint stiffness53 Frequent (79-30%)
55 aphasia53 Very frequent (99-80%)
56 biparietal narrowing53 Very frequent (99-80%)
57 bilateral single transverse palmar creases53 Frequent (79-30%)
58 hypoplasia of the musculature53 Very frequent (99-80%)
59 cheekbone underdevelopment53 Very frequent (99-80%)
60 abnormality of movement53 Very frequent (99-80%)

UMLS symptoms related to Allan-Herndon-Dudley Syndrome:


ataxia, clonus, drooling

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 260690-82-47028
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 261693-14-13516
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 2606299-42-39294
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 217734
5Nasal DecongestantsPhase 2578
6Peripheral Nervous System AgentsPhase 222776
7Adrenergic AgonistsPhase 22877
8Vasoconstrictor AgentsPhase 22027
9Respiratory System AgentsPhase 24818
10HormonesPhase 213979
11Adrenergic alpha-AgonistsPhase 21625
12Autonomic AgentsPhase 29774
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 2616
16ExpectorantsPhase 2388
17Adrenergic AgentsPhase 25140
18Anti-Obesity AgentsPhase 2411

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 Syndrome26

Anatomical Context for Allan-Herndon-Dudley Syndrome

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

35
Thyroid, Brain, Bone, Skeletal muscle, Eye

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

69 (show all 18)
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

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

5 (show all 28)
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, 1212TdeletionPathogenicChr na, -1: -1
3SLC16A2NM_006517.4(SLC16A2): c.449C> T (p.Ala150Val)SNVPathogenicrs104894936GRCh37Chr X, 73740843: 73740843
4SLC16A2SLC16A2, EX1DELdeletionPathogenicChr na, -1: -1
5SLC16A2NM_006517.4(SLC16A2): c.1190T> C (p.Leu397Pro)SNVPathogenicrs122455132GRCh37Chr X, 73749067: 73749067
6SLC16A2nsv513796deletionPathogenicChr na, -1: -1
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)deletionLikely pathogenic, 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)SNVLikely pathogenic, 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
28SLC16A2NM_006517.4(SLC16A2): c.839A> G (p.Tyr280Cys)SNVLikely pathogenicrs398124231GRCh37Chr X, 73744457: 73744457

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6SLC16A2, SLCO1C1
29.6SLC16A2, SLCO1C1

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
1thyroid 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet