MCID: ALL001
MIFTS: 45

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 49 10 11 45 23 12 51 67 24 65
Allan-Herndon Syndrome 10 45 23
Ahds 45 51 67
Monocarboxylate Transporter 8 Deficiency 51 67
Mct8 Deficiency 51 67
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency 23
X-Linked Intellectual Disability-Hypotonia Syndrome 51
 
X-Linked Intellectual Disability with Hypotonia 45
Mental Retardation, X-Linked, with Hypotonia 23
Intellectual Disability and Muscular Atrophy 45
Monocarboxylate Transporter 8 Deficiency 23
Monocarboxylate Transporter-8 Deficiency 45
Triiodothyronine Resistence 45
T3 Resisitence 45

Characteristics:

Orphanet epidemiological data:

51
allan-herndon-dudley syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: any age

HPO:

61
allan-herndon-dudley syndrome:
Onset and clinical course: congenital onset
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 300523
Disease Ontology10 DOID:0050631
Orphanet51 59
ICD10 via Orphanet28 E03.1
MESH via Orphanet37 C537047
MedGen34 C0795889
UMLS65 C0795889

Summaries for Allan-Herndon-Dudley Syndrome

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UniProtKB/Swiss-Prot:67 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 cognitive impairment, hypoplasia of the zygomatic bone and skeletal muscle atrophy. 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.

Disease Ontology:10 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:23 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:45 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:49 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
9opitz-gbbb syndrome9.5ZMYM3, ZNF711
10x-inactivation, familial skewed7.3DACH2, 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:

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

UMLS symptoms related to Allan-Herndon-Dudley Syndrome:


drooling, clonus, ataxia

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 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PseudoephedrineapprovedPhase 244790-82-47028
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
Ephed 60
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 Hydrochloride
Pseudoephedrine [INN:BAN]
Pseudoephedrine d-form
Pseudoephedrine hydrochloride
Pseudoephedrine sulfate
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
Suphedrine
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
ChlorpheniramineapprovedPhase 259113-92-8, 132-22-92725
Synonyms:
1-(P-Chlorophenyl)-1-(2-pyridyl)-3-N,N-dimethylpropylamine
1-(p-Chlorophenyl)-1-(2-pyridyl)-3-N,N-dimethylpropylamine
1-(p-Chlorophenyl)-1-(2-pyridyl)-3-dimethylaminopropane
1-(p-chlorophenyl)-1-(2-pyridyl)-3-dimethylaminopropane
113-92-8
132-22-9
2-(p-Chloro-alpha-(2-(dimethylamino)ethyl)benzyl)pyridine
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
3-(p-Chlorophenyl)-3-(2-pyridyl)-N,N-dimethylpropylamine
4-Chloropheniramine
42882-96-2
46970-45-0
AC1L1EBQ
AKOS001650136
Aller-Chlor
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
Chlorphenamin
Chlorphenamine
Chlorphenamine (INN)
Chlorphenamine Maleate
Chlorphenamine [INN]
Chlorphenamine hydrogen maleate
Chlorphenaminum
Chlorphenaminum [INN-Latin]
Chlorpheniaramine maleate
Chlorpheniramine
Chlorpheniramine Maleate
 
Chlorpheniramine maleate
Chlorpheniraminum
Chlorprophenpyridamine
Clofeniramina
Clofeniramina (TN)
Clorfenamina
Clorfenamina [INN-Spanish]
Clorfeniramina
Clorfeniramina [Italian]
Cloropiril
D07398
DB01114
Dexchlorpheniramine Maleate
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
γ-(4-chlorophenyl)-γ-(2-pyridyl)propyldimethylamine
3
GuaifenesinapprovedPhase 251293-14-13516
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
7 Select Mucus Relief
Actifed C
Adult Tussin
Adult Tussin chest congestion
Aeronesin
Air Power
Amonidren
Amonidrin
Aresol
Benylin-E
Bidex-400
Bronchol
Broncomar SF
Careone Adult Tussin
Careone Mucus Er
Careone Mucus Relief childrens
Chest Congestion
Chest Congestion Relief
Chest Congestion childrens
Childrens Chest Congestion
Childrens Chest Congestion Relief
Childrens Mucinex Chest Congestion
Childrens Mucinex Mini-Melts Chest Congestion
Childrens Mucus Relief
Childrens Mucus Relief Expectorant Grape
Childrensrelief Expectorant Grape
Cough
Cough Out
Dg Health Mucus Relief Er
Diabetic Siltussin Das-na
Diabetic Tussin Expectorant
Diabetic Tussin Mucus Relief
Equaline Mucus Er
Equaline Tussin chest congestion
Equate Mucus Er
Equate Tussin Adult Chest Congestion
Expectorant
Expectorant 12 Hour
Gadavyt Cough
Geri-tussin Expectorant
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
Good Neighbor Pharmacy Mucus Er
Good Neighbor Pharmacy Mucus Relief
Good Neighbor Pharmacy Tabtussin
Good Neighbor Pharmacy Tussin
Good Sense Mucus Er
Good Sense Mucus Relief
Good Sense Tussin chest congestion
Guaap
Guaiacol glycerol ether
Guaiacol glyceryl ether
Guaiacolglicerinetere
Guaiacuran
Guaiacurane
Guaiacyl glyceryl ether
Guaiamar
Guaianesin
Guaicol glycerine ether
Guaicol glyceryl ether
Guaifenesin
Guaifenesin Extended Release
Guaifenesine
Guaiphenesin
Guaiphenesine
Guaiphesin
Guiatuss
Health Mart Adult Tussin
Health Mart Mucus Er
Healthmart Chest Congestion Relief
Healthy Accents Childrens Mucus Relief
Healthy Accents Mucus Relief
Healthy Accents Tussin
Healthy Accents Tussin Chest Congestion adult
Hustosil
 
Iophen Nr
Kids-eeze Chest Relief
Leader Adult Tussin Chest Congestion
Leader Adult Tussin Mucus Plus Chest Congestion
Leader Chest Congestion Relief G450
Leader Cough Tabs
Leader Mucus Er
Leader Mucus Relief childrens
Leader Tabtussin 400
Licorice Coughing Liquid
Liqufruta
Liquituss Gg
Little Remedies Little Colds Mucus Relief Expectorant Melt Aways
Methoxypropanediol
Methphenoxydiol
Metossipropandiolo
Mucaplex
Mucinex
Mucinex For Kids
Mucinex Maximum Strength
Mucinex for Kids
Mucosa
Mucus Er
Mucus Extended Release
Mucus Releif Expectorant
Mucus Relief
Mucus Relief Chest
Mucus Relief Er
Mucus Relief Expectorant
Mucus Relief Immediate Release
O-Methoxyphenyl glyceryl ether
Organ-i Nr
Organidin NR
Pancold S
Pneumomist
Preferred Plus Chest Congestion Relief
Preferred Plus Mucus Er
Preferred Plus Tabtussin
Premier Value Chest Congestion Relief
Propanosedyl
Q-tussin
Qtussin
Quality Choice Mucus Relief
Reduton
Refenesen
Refenesen Chest Congestion Relief
Respaire-30
Ritussin Expectorant
Robafen Cough Formula
Robitussin
Robitussin Mucus Plus Chest Congestion
Rompe Pecho
Rompe Pecho EX
Rompe Pecho SF
Rugby Mucus Er
Rx Act Tussin Chest Congestion
Scot-tussin Expectorant Sf Cough
Select Brand Coughtab 400
Select Brand Mucus Relief
Select Brand Tab Tussin
Selecthealth Tussin Dm
Shopko Chest Congestion Relief
Shoprite Adult Tussin
Shoprite Mucus Relief
Siltussin Das
Siltussin Sa
Simpex Guaifenesin
Simply Right Mucus Relief
Smart Sense Childrens Mucus Relief
Smart Sense Mucus Er
Smart Sense Tussin adult
Sunmark Mucus Er
Sunmark Tussin
Sunmark Tussin chest congestion
The Medicine Shoppe Chest Congestion Relief
Topcare Mucus Er
Topcare Mucus Relief
Topcare Tussin Chest Congestion
Topcare Tussin mucus plus chest congestion
Tussin
Tussin Adult chest congestion
Tussin Chest
Tussin Chest Congestion Adult Non Drowsy
Tussin Chest Congestion Non Drowsy
Tussin EXPECTORANT
Tussin Non Drowsy
Tussin Original
Tussin adult chest congestion
Tussin adults non drowsy
Tussin expectorant for adults
Tussin mucus plus chest congestion
Ultra Tuss
Wal Tussin adult chest congestion
a-Glyceryl guaiacol ether
a-Glyceryl guaiacolate ether
alpha-Glyceryl guaiacol ether
alpha-Glyceryl guaiacolate ether
guaiphenesin
p-Cresyl acetate
4
EphedrineapprovedPhase 2447299-42-39294
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
5Nasal DecongestantsPhase 2414
6Neurotransmitter AgentsPhase 214795
7Peripheral Nervous System AgentsPhase 218510
8Vasoconstrictor AgentsPhase 21303
9Respiratory System AgentsPhase 23931
10HormonesPhase 211748
11ExpectorantsPhase 2337
12Adrenergic alpha-AgonistsPhase 21300
13Adrenergic AgonistsPhase 22331
14Anti-Obesity AgentsPhase 2354
15Appetite DepressantsPhase 2122
16Chlorpheniramine, phenylpropanolamine drug combinationPhase 2512
17Adrenergic AgentsPhase 24204

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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Anatomical Context for Allan-Herndon-Dudley Syndrome

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

33
Thyroid, Brain, Bone, Eye, Skeletal muscle, Breast, Cervix

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
Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations. (25896225)
2015
6
A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3. (25755011)
2015
7
Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. (25380603)
2014
8
Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation. (25160547)
2014
9
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome. (27081503)
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:

67 (show all 18)
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
9SLC16A2p.Gly147ArgVAR_074572
10SLC16A2p.Ala150ThrVAR_074573
11SLC16A2p.Arg197HisVAR_074574
12SLC16A2p.Gly208CysVAR_074575
13SLC16A2p.Pro247LeuVAR_074576
14SLC16A2p.Arg371CysVAR_074577
15SLC16A2p.Asp379ValVAR_074578
16SLC16A2p.Pro463LeuVAR_074579
17SLC16A2p.Gly484AspVAR_074580
18SLC16A2p.Ser216PheVAR_075145

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 pathogenicrs587784384GRCh37Chr X, 73745669: 73745669
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)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)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
1multicellular organism developmentGO:00072759.0DACH2, ZMYM3

Sources for Allan-Herndon-Dudley Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet