MCID: ALL001
MIFTS: 46

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 50 11 46 24 13 52 68 25 12 66
Allan-Herndon Syndrome 11 46 24
Ahds 46 52 68
Monocarboxylate Transporter 8 Deficiency 52 68
Mct8 Deficiency 52 68
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency 24
X-Linked Intellectual Disability-Hypotonia Syndrome 52
 
X-Linked Intellectual Disability with Hypotonia 46
Mental Retardation, X-Linked, with Hypotonia 24
Intellectual Disability and Muscular Atrophy 46
Monocarboxylate Transporter 8 Deficiency 24
Monocarboxylate Transporter-8 Deficiency 46
Triiodothyronine Resistence 46
T3 Resisitence 46

Characteristics:

Orphanet epidemiological data:

52
allan-herndon-dudley syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: any age

HPO:

62
allan-herndon-dudley syndrome:
Inheritance: x-linked dominant inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 300523
Disease Ontology11 DOID:0050631
Orphanet52 ORPHA59
ICD10 via Orphanet29 E03.1
MESH via Orphanet38 C537047
MedGen35 C0795889

Summaries for Allan-Herndon-Dudley Syndrome

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UniProtKB/Swiss-Prot:68 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 thyroiditis, 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 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.

NIH Rare Diseases:46 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:24 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:50 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 deficiency11.8
2thyroiditis10.6
3pelizaeus-merzbacher disease10.6
4hereditary spastic paraplegia10.4
5sensorineural hearing loss10.4
6paraplegia10.4
7neuronitis10.4
8spasticity10.4
9zollinger-ellison syndrome9.5ZMYM3, ZNF711
10choroideremia, deafness, and mental retardation7.3DACH2, 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

Symptoms:

 52 (show all 27)
  • open mouth
  • narrow face
  • macrotia
  • protruding ear
  • abnormality of the neck
  • ptosis
  • proptosis
  • upslanted palpebral fissure
  • ataxia
  • gait disturbance
  • absent speech
  • hyperreflexia
  • joint stiffness
  • aphasia
  • cerebral calcification
  • inability to walk
  • scoliosis
  • biparietal narrowing
  • intellectual disability, progressive
  • bilateral single transverse palmar creases
  • hypoplasia of the musculature
  • cheekbone underdevelopment
  • intellectual disability, severe
  • severe global developmental delay
  • abnormality of movement
  • camptodactyly of finger
  • type i diabetes mellitus

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

(show all 54)
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 skeletal muscle atrophy hallmark (90%) HP:0003202
9 hypoplasia of the zygomatic bone 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 prominent antihelix HP:0000395
26 macrotia HP:0000400
27 abnormal conjugate eye movement HP:0000549
28 irritability HP:0000737
29 pectus excavatum HP:0000767
30 hypothyroidism HP:0000821
31 ataxia HP:0001251
32 spastic paraplegia HP:0001258
33 dysarthria HP:0001260
34 neonatal hypotonia HP:0001319
35 flexion contracture HP:0001371
36 abnormality of the rib cage HP:0001547
37 pes planus HP:0001763
38 hallux valgus HP:0001822
39 clonus HP:0002169
40 delayed cns myelination HP:0002188
41 drooling HP:0002307
42 leukodystrophy HP:0002415
43 spastic tetraplegia HP:0002510
44 inability to walk HP:0002540
45 scoliosis HP:0002650
46 thyroid-stimulating hormone excess HP:0002925
47 babinski sign HP:0003487
48 generalized amyotrophy HP:0003700
49 intellectual disability, progressive HP:0006887
50 obsolete involuntary writhing movements HP:0007316
51 feeding difficulties in infancy HP:0008872
52 intellectual disability, severe HP:0010864
53 severe global developmental delay HP:0011344
54 stahl ear HP:0100015

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PseudoephedrinePhase 256990-82-47028
Synonyms:
( )-Pseudoephedrine
(+)-(1S,2S)-Pseudoephedrine
(+)-Pseudoephedrine
(+)-Psi-ephedrine
(+)-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-2-methylamino-1-phenyl-1-propanol
D-Psi-Ephedrine
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(+)-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
trans-Ephedrine
2
PhenylpropanolaminePhase 260314838-15-426934
Synonyms:
(+)-Norephedrine
(+-)-Norephedrin
(+-)-Norephedrine
(+/-)-Norephedrin
(-)-Norephedrin
(-)-Norephedrine
(.+-.)-Norephedrine
(1R,2S)-Norephedrine
.psi.-Norephedrine
134-60-1
14838-15-4
16960-27-3
1926-74-5
2-amino-1-phenylpropan-1-ol
27818-48-0
282553_ALDRICH
317500_ALDRICH
36393-56-3
36393-57-4
37577-07-4
37577-28-9
48115-38-4
492-39-7
492-41-1
6891-23-2
700-65-2
74530_FLUKA
AB00375975
AB1001936
AC1L1C6K
AC1L1IYB
AC1L1UWH
AC1L4QZI
AC1Q59PM
AR-1J0987
AR-1J0988
Acutrim
Ami-Tex
BIDD:GT0376
BPBio1_000361
BRN 2802895
BRN 3196918
BSPBio_000327
BSPBio_003292
C02343
C07911
C16719
C9H13NO
CHEBI:327494
CHEMBL136560
CID10297
CID162265
CID26934
CID4786
Cathina
Cathine
Cathine [INN]
Cathinum
Cathinum [INN-Latin]
Codimal
Conex
Contuss
D-(+)-Norephedrine
D08368
DB00397
DEA No. 1230
DL-Norephedrine
DL-Phenylpropanolamine
Despec
Dexatrim
DivK1c_000795
DivK1c_007030
Dura-Vent
EINECS 207-754-1
EINECS 207-755-7
EINECS 211-850-9
EINECS 238-900-2
EINECS 253-014-6
Exponcit
Fansia
Fansia (TN)
Fenilpropanolamina
Fugoa
Fugoa Depot
Gentab
Guaipax
HMS2090P12
HSDB 6485
Hydriatine
I01-8913
I01-8924
IDI1_000795
KBio1_000795
KBio1_001974
KBio2_001583
KBio2_004151
 
KBio2_006719
KBio3_001778
KBio3_002512
KBioGR_001385
KBioGR_001950
KBioSS_001583
Katine
L-(-)-Norephedrine
L-NOREPHEDRINE
L-Phenyl Propanolamine
L001077
LS-176795
LS-97284
LS-97285
LS-97461
LS-97462
Minusine
MolPort-001-769-340
MolPort-001-788-006
MolPort-001-794-194
MolPort-001-794-233
Mucorama
Mucron
Mydriatin
Myminic
NCGC00178157-01
NCGC00178157-02
NINDS_000795
NSC 17704
NSC 9920
NSC120735
NSC17704
NSC9920
Nobese
Nolex
Norephedrin
Norephedrine
Norpseudoephedrine
Obestat
PDSP1_001348
PDSP1_001349
PDSP1_001354
PDSP2_001332
PDSP2_001333
PDSP2_001338
PPA
Partuss
Phenoxine
Phenyldrine
Phenylfenesin
Phenylpropanolamin
Phenylpropanolamina
Phenylpropanolamine
Phenylpropanolaminum
Phénylpropanolamine
Prestwick0_000324
Prestwick1_000324
Prestwick2_000324
Prestwick3_000324
Prestwick_388
Propadrine
Propagest
Pseudonorephedrine
Rhindecon
Rhymed
SPBio_000051
SPBio_000471
SPBio_002248
SPECTRUM2300253
Snaplets
SpecPlus_000934
Spectrum2_000016
Spectrum2_000516
Spectrum3_000889
Spectrum3_001706
Spectrum4_000983
Spectrum4_001685
Spectrum5_000330
Spectrum5_001156
Spectrum_001103
Super Odrinex
TAVIST-D
ULR
UNII-33RU150WUN
UNII-E1L4ZW2F8O
USAF CS-6
Vanex
WLN: ZY1&YQR
WLN: ZY1&YQR -L
d-Nor-psi-ephedrine
d-Norpseudoephedrine
dl-Norephedrine
l-Nor-psi-ephedrin
l-Nor-psi-ephedrine
l-Norephedrine
phenylpropanolamine
psi-Norephedrine
β-hydroxyamphetamine
3
GuaifenesinPhase 260393-14-13516
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
4
EphedrinePhase 2569299-42-39294
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
5
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

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 Syndrome25

Anatomical Context for Allan-Herndon-Dudley Syndrome

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

34
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 22)
idTitleAuthorsYear
1
Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome. (25517855)
2015
2
Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. (26426690)
2015
3
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
4
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss. (25850411)
2015
5
A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3. (25755011)
2015
6
Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations. (25896225)
2015
7
Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. (25380603)
2014
8
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome. (27081503)
2014
9
Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation. (25160547)
2014
10
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
11
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
12
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution. (23550058)
2013
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
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
15
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
16
Allan-Herndon-Dudley syndrome. (18589880)
2008
17
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. (18398436)
2008
18
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. (17574010)
2007
19
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. (15980113)
2006
20
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. (15889350)
2005
21
Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? (15364700)
2004
22
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:

68 (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 26)
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)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)single nucleotide variantPathogenicrs587784382GRCh37Chr X, 73744534: 73744534
13SLC16A2NM_006517.4(SLC16A2): c.979G> A (p.Gly327Arg)single nucleotide variantLikely pathogenicrs587784383GRCh37Chr X, 73744597: 73744597
14SLC16A2NM_006517.4(SLC16A2): c.1111C> T (p.Arg371Cys)single nucleotide variantLikely pathogenic, Pathogenicrs587784384GRCh38Chr X, 74525834: 74525834
15SLC16A2NM_006517.4(SLC16A2): c.277C> T (p.Gln93Ter)single nucleotide variantPathogenicrs587784386GRCh37Chr X, 73641749: 73641749
16SLC16A2NM_006517.4(SLC16A2): c.449C> A (p.Ala150Glu)single nucleotide variantLikely pathogenicrs104894936GRCh37Chr X, 73740843: 73740843
17SLC16A2NM_006517.4(SLC16A2): c.326G> A (p.Trp109Ter)single nucleotide variantPathogenicrs794726932GRCh37Chr X, 73641798: 73641798
18SLC16A2NM_006517.4(SLC16A2): c.353A> C (p.His118Pro)single nucleotide variantLikely pathogenicrs794726933GRCh37Chr X, 73641825: 73641825
19SLC16A2NM_006517.4(SLC16A2): c.940C> T (p.Arg314Ter)single nucleotide variantPathogenicrs766773277GRCh38Chr 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)deletionPathogenicrs797045966GRCh38Chr X, 74422011: 74422011
24SLC16A2NM_006517.4(SLC16A2): c.1278_1280delCTT (p.Phe427del)deletionPathogenicrs113994164GRCh37Chr X, 73749155: 73749157
25SLC16A2NM_006517.4(SLC16A2): c.359C> T (p.Ser120Phe)single nucleotide variantPathogenicrs113994162GRCh37Chr X, 73641831: 73641831
26SLC16A2NM_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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet