MCID: ALL001
MIFTS: 49

Allan-Herndon-Dudley Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Allan-Herndon-Dudley Syndrome

MalaCards integrated aliases for Allan-Herndon-Dudley Syndrome:

Name: Allan-Herndon-Dudley Syndrome 57 12 53 25 75 37 29 13 6 15 73
Allan-Herndon Syndrome 57 12 53 25
Ahds 57 53 75
Mental Retardation, X-Linked, with Hypotonia 57 25
Monocarboxylate Transporter 8 Deficiency 57 75
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency 25
X-Linked Intellectual Disability with Hypotonia 53
Intellectual Disability and Muscular Atrophy 53
Monocarboxylate Transporter 8 Deficiency 25
Monocarboxylate Transporter-8 Deficiency 53
Mental Retardation and Muscular Atrophy 57
Allan-Herndon-Dudley Syndrome ) 40
Triiodothyronine Resistance 57
Triiodothyronine Resistence 53
Mct8 Deficiency 75
T3 Resisitence 53
T3 Resistance 57

Characteristics:

OMIM:

57
Miscellaneous:
onset at birth
heterozygous females may have milder thyroid phenotype and no neurologic abnormalities
no peripheral signs of hypothyroidism

Inheritance:
x-linked


HPO:

32
allan-herndon-dudley syndrome:
Onset and clinical course congenital onset
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Allan-Herndon-Dudley Syndrome

UniProtKB/Swiss-Prot : 75 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-like disease, and has symptoms including 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/superpathways are Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview and Thyroid hormone signaling pathway. The drugs Ephedrine and Guaifenesin have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and eye, and related phenotypes are pectus excavatum and ptosis

NIH Rare Diseases : 53 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. 

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 : 12 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.

Wikipedia : 76 Allan–Herndon–Dudley syndrome is a rare X-linked inherited disorder of brain development that causes... more...

Description from OMIM: 300523

Related Diseases for Allan-Herndon-Dudley Syndrome

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 mct8-specific thyroid hormone cell-membrane transporter deficiency 12.1
2 pelizaeus-merzbacher-like disease 11.5
3 alagille syndrome 1 11.1
4 alveolar echinococcosis 11.0
5 thyroiditis 10.5
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
7 hereditary spastic paraplegia 10.4
8 sensorineural hearing loss 10.4
9 paraplegia 10.4
10 neuronitis 10.4
11 esotropia 10.4
12 spasticity 10.4

Graphical network of the top 20 diseases related to Allan-Herndon-Dudley Syndrome:



Diseases related to Allan-Herndon-Dudley Syndrome

Symptoms & Phenotypes for Allan-Herndon-Dudley Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
dysarthria
hyperreflexia
clonus
neonatal hypotonia
more
Head And Neck Head:
microcephaly

Skeletal Feet:
flat feet
lateral deviation of great toe

Head And Neck Face:
bitemporal narrowing
elongated face

Head And Neck Eyes:
disconjugate eye movements
nystagmus, rotary (in some patients)

Skeletal:
joint contractures (small and large joints affected)

Skeletal Spine:
scoliosis

Neurologic Behavioral Psychiatric Manifestations:
irritability

Head And Neck Ears:
large ears
simple ears
prominent antihelix
pinna modeling anomalies
flattened antihelix

Abdomen Gastrointestinal:
poor feeding

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, broad, shallow

Laboratory Abnormalities:
decreased serum thyroxine (t4)
decreased serum free thyroxine
normal or mildly increased thyroid-stimulating hormone (tsh)
increased serum triiodothyronine (t3)
decreased serum rt3


Clinical features from OMIM:

300523

Human phenotypes related to Allan-Herndon-Dudley Syndrome:

32 (show top 50) (show all 54)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767
2 ptosis 32 occasional (7.5%) HP:0000508
3 hypothyroidism 32 HP:0000821
4 ataxia 32 hallmark (90%) HP:0001251
5 dysarthria 32 HP:0001260
6 hyperreflexia 32 hallmark (90%) HP:0001347
7 clonus 32 HP:0002169
8 cerebral calcification 32 occasional (7.5%) HP:0002514
9 bowel incontinence 32 hallmark (90%) HP:0002607
10 scoliosis 32 occasional (7.5%) HP:0002650
11 macrotia 32 frequent (33%) HP:0000400
12 joint stiffness 32 frequent (33%) HP:0001387
13 pes planus 32 HP:0001763
14 microcephaly 32 HP:0000252
15 neonatal hypotonia 32 HP:0001319
16 flexion contracture 32 HP:0001371
17 feeding difficulties in infancy 32 HP:0008872
18 type i diabetes mellitus 32 occasional (7.5%) HP:0100651
19 spastic tetraplegia 32 HP:0002510
20 intellectual disability, severe 32 hallmark (90%) HP:0010864
21 skeletal muscle atrophy 32 hallmark (90%) HP:0003202
22 irritability 32 HP:0000737
23 severe global developmental delay 32 hallmark (90%) HP:0011344
24 absent speech 32 hallmark (90%) HP:0001344
25 biparietal narrowing 32 hallmark (90%) HP:0004422
26 babinski sign 32 HP:0003487
27 inability to walk 32 hallmark (90%) HP:0002540
28 protruding ear 32 occasional (7.5%) HP:0000411
29 aphasia 32 hallmark (90%) HP:0002381
30 intellectual disability, progressive 32 hallmark (90%) HP:0006887
31 narrow face 32 hallmark (90%) HP:0000275
32 open mouth 32 frequent (33%) HP:0000194
33 upslanted palpebral fissure 32 hallmark (90%) HP:0000582
34 bilateral single transverse palmar creases 32 frequent (33%) HP:0007598
35 abnormality of the neck 32 hallmark (90%) HP:0000464
36 hallux valgus 32 HP:0001822
37 proptosis 32 occasional (7.5%) HP:0000520
38 spastic paraplegia 32 HP:0001258
39 camptodactyly of finger 32 occasional (7.5%) HP:0100490
40 urinary incontinence 32 hallmark (90%) HP:0000020
41 leukodystrophy 32 HP:0002415
42 athetosis 32 HP:0002305
43 drooling 32 HP:0002307
44 generalized amyotrophy 32 HP:0003700
45 hypoplasia of the musculature 32 hallmark (90%) HP:0009004
46 narrow forehead 32 HP:0000341
47 delayed cns myelination 32 HP:0002188
48 abnormal conjugate eye movement 32 HP:0000549
49 prominent antihelix 32 HP:0000395
50 rotary nystagmus 32 occasional (7.5%) HP:0001583

UMLS symptoms related to Allan-Herndon-Dudley Syndrome:


ataxia, clonus

Drugs & Therapeutics for Allan-Herndon-Dudley Syndrome

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ephedrine Approved Phase 2 299-42-3 9294
2
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
3
Pseudoephedrine Approved Phase 2 90-82-4 7028
4 Adrenergic Agents Phase 2
5 Adrenergic Agonists Phase 2
6 Adrenergic alpha-Agonists Phase 2
7 Anti-Obesity Agents Phase 2
8 Appetite Depressants Phase 2
9 Autonomic Agents Phase 2
10
Chlorpheniramine Phase 2 113-92-8, 132-22-9 2725
11 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
12 Expectorants Phase 2
13 Hormones Phase 2
14 Nasal Decongestants Phase 2
15 Neurotransmitter Agents Phase 2
16 Peripheral Nervous System Agents Phase 2
17 Respiratory System Agents Phase 2
18 Vasoconstrictor Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triac Trial in MCT8 Patients Active, not recruiting NCT02060474 Phase 2 Triac
2 Triac Trial II in MCT8 Patients Not yet recruiting NCT02396459 Phase 2 Triac

Search NIH Clinical Center for Allan-Herndon-Dudley Syndrome

Genetic Tests for Allan-Herndon-Dudley Syndrome

Genetic tests related to Allan-Herndon-Dudley Syndrome:

# Genetic test Affiliating Genes
1 Allan-Herndon-Dudley Syndrome 29 SLC16A2

Anatomical Context for Allan-Herndon-Dudley Syndrome

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

41
Thyroid, Brain, Eye, Bone, Skeletal Muscle

Publications for Allan-Herndon-Dudley Syndrome

Articles related to Allan-Herndon-Dudley Syndrome:

(show all 28)
# Title Authors Year
1
Intermittent Esotropia in 4 Patients With Allan-Herndon-Dudley Syndrome. ( 29714107 )
2018
2
The Chemical Chaperone Phenylbutyrate Rescues MCT8 Mutations Associated With Milder Phenotypes in Patients With Allan-Herndon-Dudley Syndrome. ( 27977298 )
2017
3
Erratum: Correction: Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. ( 28944150 )
2017
4
A novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome. ( 28862359 )
2017
5
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. ( 27805744 )
2016
6
Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. ( 27672545 )
2016
7
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
8
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss. ( 25850411 )
2015
9
Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome. ( 25517855 )
2015
10
Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. ( 26426690 )
2015
11
Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations. ( 25896225 )
2015
12
A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3. ( 25755011 )
2015
13
Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation. ( 25160547 )
2014
14
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome. ( 27081503 )
2014
15
Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. ( 25380603 )
2014
16
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
17
Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: Report of a new case and review of the literature. ( 24268987 )
2013
18
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
19
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution. ( 23550058 )
2013
20
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
21
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
22
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. ( 18398436 )
2008
23
Allan-Herndon-Dudley syndrome. ( 18589880 )
2008
24
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. ( 17574010 )
2007
25
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. ( 15980113 )
2006
26
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. ( 15889350 )
2005
27
Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? ( 15364700 )
2004
28
Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. ( 1605231 )
1992

Variations for Allan-Herndon-Dudley Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Allan-Herndon-Dudley Syndrome:

75 (show all 20)
# Symbol AA change Variation ID SNP ID
1 SLC16A2 p.Ala150Val VAR_022348 rs104894936
2 SLC16A2 p.Leu397Pro VAR_022349 rs122455132
3 SLC16A2 p.Leu438Pro VAR_022350 rs104894931
4 SLC16A2 p.Ser120Phe VAR_059054 rs113994162
5 SLC16A2 p.Val161Met VAR_059056
6 SLC16A2 p.Leu360Trp VAR_059057 rs104894939
7 SLC16A2 p.Gly490Arg VAR_059059 rs794727799
8 SLC16A2 p.Leu494Pro VAR_059060 rs104894938
9 SLC16A2 p.Gly147Arg VAR_074572
10 SLC16A2 p.Ala150Thr VAR_074573 rs373279555
11 SLC16A2 p.Arg197His VAR_074574 rs727504155
12 SLC16A2 p.Gly208Cys VAR_074575
13 SLC16A2 p.Pro247Leu VAR_074576
14 SLC16A2 p.Arg371Cys VAR_074577 rs587784384
15 SLC16A2 p.Asp379Val VAR_074578
16 SLC16A2 p.Pro463Leu VAR_074579
17 SLC16A2 p.Gly484Asp VAR_074580
18 SLC16A2 p.Ser216Phe VAR_075145 rs398124232
19 SLC16A2 p.Leu217Arg VAR_078497
20 SLC16A2 p.Gly490Glu VAR_078498

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

6
(show top 50) (show all 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC16A2 NM_006517.4(SLC16A2): c.1313T> C (p.Leu438Pro) single nucleotide variant Pathogenic rs104894931 GRCh37 Chromosome X, 73749190: 73749190
2 SLC16A2 NM_006517.4(SLC16A2): c.1313T> C (p.Leu438Pro) single nucleotide variant Pathogenic rs104894931 GRCh38 Chromosome X, 74529355: 74529355
3 SLC16A2 SLC16A2, 1-BP DEL, 1212T deletion Pathogenic
4 SLC16A2 NM_006517.4(SLC16A2): c.449C> T (p.Ala150Val) single nucleotide variant Pathogenic rs104894936 GRCh37 Chromosome X, 73740843: 73740843
5 SLC16A2 NM_006517.4(SLC16A2): c.449C> T (p.Ala150Val) single nucleotide variant Pathogenic rs104894936 GRCh38 Chromosome X, 74521008: 74521008
6 SLC16A2 SLC16A2, EX1DEL deletion Pathogenic
7 SLC16A2 NM_006517.4(SLC16A2): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs122455132 GRCh37 Chromosome X, 73749067: 73749067
8 SLC16A2 NM_006517.4(SLC16A2): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs122455132 GRCh38 Chromosome X, 74529232: 74529232
9 SLC16A2 nsv513796 deletion Pathogenic
10 SLC16A2 NM_006517.4(SLC16A2): c.1481T> C (p.Leu494Pro) single nucleotide variant Pathogenic rs104894938 GRCh37 Chromosome X, 73751249: 73751249
11 SLC16A2 NM_006517.4(SLC16A2): c.1481T> C (p.Leu494Pro) single nucleotide variant Pathogenic rs104894938 GRCh38 Chromosome X, 74531414: 74531414
12 SLC16A2 NM_006517.4(SLC16A2): c.1079T> G (p.Leu360Trp) single nucleotide variant Pathogenic rs104894939 GRCh37 Chromosome X, 73745637: 73745637
13 SLC16A2 NM_006517.4(SLC16A2): c.1079T> G (p.Leu360Trp) single nucleotide variant Pathogenic rs104894939 GRCh38 Chromosome X, 74525802: 74525802
14 SLC16A2 NM_006517.4(SLC16A2): c.1121C> A (p.Ser374Ter) single nucleotide variant Pathogenic rs104894940 GRCh37 Chromosome X, 73745679: 73745679
15 SLC16A2 NM_006517.4(SLC16A2): c.1121C> A (p.Ser374Ter) single nucleotide variant Pathogenic rs104894940 GRCh38 Chromosome X, 74525844: 74525844
16 SLC16A2 NM_006517.4(SLC16A2): c.461_463delTCT (p.Phe156del) deletion Likely pathogenic rs387906501 GRCh38 Chromosome X, 74521026: 74521028
17 SLC16A2 NM_006517.4(SLC16A2): c.461_463delTCT (p.Phe156del) deletion Likely pathogenic rs387906501 GRCh37 Chromosome X, 73740861: 73740863
18 SLC16A2 NM_006517.4(SLC16A2): c.1612delC (p.Pro538Glnfs) deletion Pathogenic rs113994166 GRCh37 Chromosome X, 73751380: 73751380
19 SLC16A2 NM_006517.4(SLC16A2): c.1612delC (p.Pro538Glnfs) deletion Pathogenic rs113994166 GRCh38 Chromosome X, 74531545: 74531545
20 SLC16A2 NM_006517.4(SLC16A2): c.1278_1280delCTT (p.Phe427del) deletion Pathogenic rs113994164 GRCh37 Chromosome X, 73749155: 73749157
21 SLC16A2 NM_006517.4(SLC16A2): c.1278_1280delCTT (p.Phe427del) deletion Pathogenic rs113994164 GRCh38 Chromosome X, 74529320: 74529322
22 SLC16A2 NM_006517.4(SLC16A2): c.359C> T (p.Ser120Phe) single nucleotide variant Pathogenic rs113994162 GRCh37 Chromosome X, 73641831: 73641831
23 SLC16A2 NM_006517.4(SLC16A2): c.359C> T (p.Ser120Phe) single nucleotide variant Pathogenic rs113994162 GRCh38 Chromosome X, 74421996: 74421996
24 SLC16A2 NM_006517.4(SLC16A2): c.1253T> C (p.Leu418Pro) single nucleotide variant Pathogenic rs367543059 GRCh37 Chromosome X, 73749130: 73749130
25 SLC16A2 NM_006517.4(SLC16A2): c.1253T> C (p.Leu418Pro) single nucleotide variant Pathogenic rs367543059 GRCh38 Chromosome X, 74529295: 74529295
26 SLC16A2 NM_006517.4(SLC16A2): c.839A> G (p.Tyr280Cys) single nucleotide variant Likely pathogenic rs398124231 GRCh37 Chromosome X, 73744457: 73744457
27 SLC16A2 NM_006517.4(SLC16A2): c.839A> G (p.Tyr280Cys) single nucleotide variant Likely pathogenic rs398124231 GRCh38 Chromosome X, 74524622: 74524622
28 SLC16A2 NM_006517.4(SLC16A2): c.-53A> C single nucleotide variant Uncertain significance rs587784385 GRCh37 Chromosome X, 73641420: 73641420
29 SLC16A2 NM_006517.4(SLC16A2): c.-53A> C single nucleotide variant Uncertain significance rs587784385 GRCh38 Chromosome X, 74421585: 74421585
30 SLC16A2 NM_006517.4(SLC16A2): c.277C> T (p.Gln93Ter) single nucleotide variant Pathogenic rs587784386 GRCh37 Chromosome X, 73641749: 73641749
31 SLC16A2 NM_006517.4(SLC16A2): c.277C> T (p.Gln93Ter) single nucleotide variant Pathogenic rs587784386 GRCh38 Chromosome X, 74421914: 74421914
32 SLC16A2 NM_006517.4(SLC16A2): c.449C> A (p.Ala150Glu) single nucleotide variant Likely pathogenic rs104894936 GRCh37 Chromosome X, 73740843: 73740843
33 SLC16A2 NM_006517.4(SLC16A2): c.449C> A (p.Ala150Glu) single nucleotide variant Likely pathogenic rs104894936 GRCh38 Chromosome X, 74521008: 74521008
34 SLC16A2 NM_006517.4(SLC16A2): c.916C> T (p.Gln306Ter) single nucleotide variant Pathogenic rs587784382 GRCh37 Chromosome X, 73744534: 73744534
35 SLC16A2 NM_006517.4(SLC16A2): c.916C> T (p.Gln306Ter) single nucleotide variant Pathogenic rs587784382 GRCh38 Chromosome X, 74524699: 74524699
36 SLC16A2 NM_006517.4(SLC16A2): c.979G> A (p.Gly327Arg) single nucleotide variant Likely pathogenic rs587784383 GRCh37 Chromosome X, 73744597: 73744597
37 SLC16A2 NM_006517.4(SLC16A2): c.979G> A (p.Gly327Arg) single nucleotide variant Likely pathogenic rs587784383 GRCh38 Chromosome X, 74524762: 74524762
38 SLC16A2 NM_006517.4(SLC16A2): c.1111C> T (p.Arg371Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587784384 GRCh37 Chromosome X, 73745669: 73745669
39 SLC16A2 NM_006517.4(SLC16A2): c.1111C> T (p.Arg371Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587784384 GRCh38 Chromosome X, 74525834: 74525834
40 SLC16A2 NM_006517.4(SLC16A2): c.326G> A (p.Trp109Ter) single nucleotide variant Pathogenic rs794726932 GRCh37 Chromosome X, 73641798: 73641798
41 SLC16A2 NM_006517.4(SLC16A2): c.326G> A (p.Trp109Ter) single nucleotide variant Pathogenic rs794726932 GRCh38 Chromosome X, 74421963: 74421963
42 SLC16A2 NM_006517.4(SLC16A2): c.353A> C (p.His118Pro) single nucleotide variant Likely pathogenic rs794726933 GRCh37 Chromosome X, 73641825: 73641825
43 SLC16A2 NM_006517.4(SLC16A2): c.353A> C (p.His118Pro) single nucleotide variant Likely pathogenic rs794726933 GRCh38 Chromosome X, 74421990: 74421990
44 SLC16A2 NM_006517.4(SLC16A2): c.256delC (p.Arg86Alafs) deletion Pathogenic rs797045965 GRCh38 Chromosome X, 74421893: 74421893
45 SLC16A2 NM_006517.4(SLC16A2): c.256delC (p.Arg86Alafs) deletion Pathogenic rs797045965 GRCh37 Chromosome X, 73641728: 73641728
46 SLC16A2 NM_006517.4(SLC16A2): c.374delA (p.Tyr125Serfs) deletion Pathogenic rs797045966 GRCh37 Chromosome X, 73641846: 73641846
47 SLC16A2 NM_006517.4(SLC16A2): c.374delA (p.Tyr125Serfs) deletion Pathogenic rs797045966 GRCh38 Chromosome X, 74422011: 74422011
48 SLC16A2 NM_006517.4(SLC16A2): c.940C> T (p.Arg314Ter) single nucleotide variant Pathogenic rs766773277 GRCh38 Chromosome X, 74524723: 74524723
49 SLC16A2 NM_006517.4(SLC16A2): c.940C> T (p.Arg314Ter) single nucleotide variant Pathogenic rs766773277 GRCh37 Chromosome X, 73744558: 73744558
50 SLC16A2 NM_006517.4(SLC16A2): c.1392dupC (p.Ile465Hisfs) duplication Pathogenic rs797045962 GRCh38 Chromosome X, 74529434: 74529434

Expression for Allan-Herndon-Dudley Syndrome

Search GEO for disease gene expression data for Allan-Herndon-Dudley Syndrome.

Pathways for Allan-Herndon-Dudley Syndrome

GO Terms for Allan-Herndon-Dudley Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 sodium-independent organic anion transport GO:0043252 8.96 SLC16A2 SLCO1C1
2 thyroid hormone transport GO:0070327 8.62 SLC16A2 SLCO1C1

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

# Name GO ID Score Top Affiliating Genes
1 thyroid hormone transmembrane transporter activity GO:0015349 8.62 SLC16A2 SLCO1C1

Sources for Allan-Herndon-Dudley Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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34 ICD10 via Orphanet
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37 KEGG
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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