AHDS
MCID: ALL001
MIFTS: 49

Allan-Herndon-Dudley Syndrome (AHDS)

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 58 12 77 54 26 76 38 30 13 6 45 15 74
Allan-Herndon Syndrome 58 12 54 26
Ahds 58 54 76
Mental Retardation, X-Linked, with Hypotonia 58 26
Monocarboxylate Transporter 8 Deficiency 58 76
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency 26
X-Linked Intellectual Disability with Hypotonia 54
Intellectual Disability and Muscular Atrophy 54
Monocarboxylate Transporter 8 Deficiency 26
Monocarboxylate Transporter-8 Deficiency 54
Mental Retardation and Muscular Atrophy 58
Syndrome, Allan-Herndon-Dudley 41
Triiodothyronine Resistance 58
Triiodothyronine Resistence 54
Mct8 Deficiency 76
T3 Resisitence 54
T3 Resistance 58

Characteristics:

OMIM:

58
Miscellaneous:
onset at birth
heterozygous females may have milder thyroid phenotype and no neurologic abnormalities
no peripheral signs of hypothyroidism

Inheritance:
x-linked


HPO:

33
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 : 76 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 Thyroid hormone signaling pathway and Transport of vitamins, nucleosides, and related molecules. The drugs Guaifenesin and Pseudoephedrine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and eye, and related phenotypes are ataxia and hyperreflexia

Disease Ontology : 12 A X-linked recessive 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 : 26 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 : 54 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. 

Wikipedia : 77 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 15)
# Related Disease Score Top Affiliating Genes
1 mct8-specific thyroid hormone cell-membrane transporter deficiency 12.3
2 pelizaeus-merzbacher-like disease 11.7
3 alagille syndrome 1 11.3
4 alveolar echinococcosis 11.2
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
6 hereditary spastic paraplegia 10.5
7 sensorineural hearing loss 10.5
8 monocular esotropia 10.5
9 paraplegia 10.5
10 esotropia 10.5
11 cerebral palsy 10.4
12 wilson disease 10.1
13 liver disease 10.1
14 diarrhea 10.1
15 spondyloenchondrodysplasia 10.1

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

Human phenotypes related to Allan-Herndon-Dudley Syndrome:

33 (show top 50) (show all 54)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 hallmark (90%) HP:0001251
2 hyperreflexia 33 hallmark (90%) HP:0001347
3 bowel incontinence 33 hallmark (90%) HP:0002607
4 intellectual disability, severe 33 hallmark (90%) HP:0010864
5 skeletal muscle atrophy 33 hallmark (90%) HP:0003202
6 severe global developmental delay 33 hallmark (90%) HP:0011344
7 absent speech 33 hallmark (90%) HP:0001344
8 biparietal narrowing 33 hallmark (90%) HP:0004422
9 inability to walk 33 hallmark (90%) HP:0002540
10 aphasia 33 hallmark (90%) HP:0002381
11 intellectual disability, progressive 33 hallmark (90%) HP:0006887
12 narrow face 33 hallmark (90%) HP:0000275
13 upslanted palpebral fissure 33 hallmark (90%) HP:0000582
14 abnormality of the neck 33 hallmark (90%) HP:0000464
15 urinary incontinence 33 hallmark (90%) HP:0000020
16 hypoplasia of the musculature 33 hallmark (90%) HP:0009004
17 hypoplasia of the zygomatic bone 33 hallmark (90%) HP:0010669
18 macrotia 33 frequent (33%) HP:0000400
19 joint stiffness 33 frequent (33%) HP:0001387
20 open mouth 33 frequent (33%) HP:0000194
21 bilateral single transverse palmar creases 33 frequent (33%) HP:0007598
22 ptosis 33 occasional (7.5%) HP:0000508
23 cerebral calcification 33 occasional (7.5%) HP:0002514
24 scoliosis 33 occasional (7.5%) HP:0002650
25 type i diabetes mellitus 33 occasional (7.5%) HP:0100651
26 protruding ear 33 occasional (7.5%) HP:0000411
27 proptosis 33 occasional (7.5%) HP:0000520
28 camptodactyly of finger 33 occasional (7.5%) HP:0100490
29 rotary nystagmus 33 occasional (7.5%) HP:0001583
30 pectus excavatum 33 HP:0000767
31 hypothyroidism 33 HP:0000821
32 dysarthria 33 HP:0001260
33 clonus 33 HP:0002169
34 pes planus 33 HP:0001763
35 microcephaly 33 HP:0000252
36 neonatal hypotonia 33 HP:0001319
37 flexion contracture 33 HP:0001371
38 feeding difficulties in infancy 33 HP:0008872
39 spastic tetraplegia 33 HP:0002510
40 irritability 33 HP:0000737
41 babinski sign 33 HP:0003487
42 hallux valgus 33 HP:0001822
43 spastic paraplegia 33 HP:0001258
44 generalized amyotrophy 33 HP:0003700
45 leukodystrophy 33 HP:0002415
46 athetosis 33 HP:0002305
47 drooling 33 HP:0002307
48 narrow forehead 33 HP:0000341
49 delayed cns myelination 33 HP:0002188
50 increased thyroid-stimulating hormone level 33 HP:0002925

Symptoms via clinical synopsis from OMIM:

58
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

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 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
2
Pseudoephedrine Approved Phase 2 90-82-4 7028
3
Ephedrine Approved Phase 2 299-42-3 9294
4 Adrenergic alpha-Agonists Phase 2
5 Appetite Depressants Phase 2
6 Hormones Phase 2
7 Respiratory System Agents Phase 2
8 Peripheral Nervous System Agents Phase 2
9 Anti-Obesity Agents Phase 2
10 Nasal Decongestants Phase 2
11 Expectorants Phase 2
12 Hormone Antagonists Phase 2
13 Adrenergic Agonists Phase 2
14 Adrenergic Agents Phase 2
15 Sympathomimetics Phase 2
16
Chlorpheniramine Phase 2 113-92-8, 132-22-9 2725
17 Vasoconstrictor Agents Phase 2
18 Autonomic Agents Phase 2
19 Neurotransmitter Agents Phase 2
20 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thyroid Hormone Analog Therapy in MCT8 Deficiency: Triac Trial Patients Completed 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

Cochrane evidence based reviews: 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 30 SLC16A2

Anatomical Context for Allan-Herndon-Dudley Syndrome

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

42
Thyroid, Brain, Eye, Bone, Skeletal Muscle

Publications for Allan-Herndon-Dudley Syndrome

Articles related to Allan-Herndon-Dudley Syndrome:

(show all 38)
# Title Authors Year
1
Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients. ( 30369548 )
2019
2
Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome. ( 28862359 )
2018
3
Intermittent Esotropia in 4 Patients With Allan-Herndon-Dudley Syndrome. ( 29714107 )
2018
4
Molecular docking studies of human MCT8 protein with soy isoflavones in Allan-Herndon-Dudley syndrome (AHDS). ( 30345146 )
2018
5
[A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation]. ( 30392207 )
2018
6
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. ( 27805744 )
2017
7
The Chemical Chaperone Phenylbutyrate Rescues MCT8 Mutations Associated With Milder Phenotypes in Patients With Allan-Herndon-Dudley Syndrome. ( 27977298 )
2017
8
Erratum: Correction: Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. ( 28944150 )
2017
9
Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome. ( 27672545 )
2016
10
Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome. ( 25517855 )
2015
11
A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3. ( 25755011 )
2015
12
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss. ( 25850411 )
2015
13
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
14
Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations. ( 25896225 )
2015
15
Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. ( 26426690 )
2015
16
Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. ( 25380603 )
2015
17
Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature. ( 24268987 )
2014
18
Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation. ( 25160547 )
2014
19
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome. ( 27081503 )
2014
20
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
21
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution. ( 23550058 )
2013
22
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
23
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
24
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
25
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. ( 18398436 )
2008
26
Allan-Herndon-Dudley syndrome. ( 18589880 )
2008
27
Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8. ( 18187543 )
2008
28
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. ( 17574010 )
2007
29
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. ( 15980113 )
2006
30
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. ( 15889350 )
2005
31
Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? ( 15364700 )
2004
32
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. ( 14661163 )
2004
33
Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. ( 12871948 )
2003
34
Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation? ( 8484404 )
1993
35
Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. ( 1605231 )
1992
36
Allan-Herndon syndrome--or X-linked cerebral palsy? ( 2035542 )
1991
37
Allan-Herndon syndrome. I. Clinical studies. ( 2393019 )
1990
38
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. ( 2393020 )
1990

Variations for Allan-Herndon-Dudley Syndrome

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

76 (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 59)
# 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.873A> T (p.Pro291=) single nucleotide variant Benign rs12849161 GRCh37 Chromosome X, 73744491: 73744491
21 SLC16A2 NM_006517.4(SLC16A2): c.873A> T (p.Pro291=) single nucleotide variant Benign rs12849161 GRCh38 Chromosome X, 74524656: 74524656
22 SLC16A2 NM_006517.4(SLC16A2): c.1278_1280delCTT (p.Phe427del) deletion Pathogenic rs113994164 GRCh37 Chromosome X, 73749155: 73749157
23 SLC16A2 NM_006517.4(SLC16A2): c.1278_1280delCTT (p.Phe427del) deletion Pathogenic rs113994164 GRCh38 Chromosome X, 74529320: 74529322
24 SLC16A2 NM_006517.4(SLC16A2): c.97T> C (p.Ser33Pro) single nucleotide variant Benign rs6647476 GRCh37 Chromosome X, 73641569: 73641569
25 SLC16A2 NM_006517.4(SLC16A2): c.97T> C (p.Ser33Pro) single nucleotide variant Benign rs6647476 GRCh38 Chromosome X, 74421734: 74421734
26 SLC16A2 NM_006517.4(SLC16A2): c.359C> T (p.Ser120Phe) single nucleotide variant Pathogenic rs113994162 GRCh37 Chromosome X, 73641831: 73641831
27 SLC16A2 NM_006517.4(SLC16A2): c.359C> T (p.Ser120Phe) single nucleotide variant Pathogenic rs113994162 GRCh38 Chromosome X, 74421996: 74421996
28 SLC16A2 NM_006517.4(SLC16A2): c.1253T> C (p.Leu418Pro) single nucleotide variant Pathogenic rs367543059 GRCh37 Chromosome X, 73749130: 73749130
29 SLC16A2 NM_006517.4(SLC16A2): c.1253T> C (p.Leu418Pro) single nucleotide variant Pathogenic rs367543059 GRCh38 Chromosome X, 74529295: 74529295
30 SLC16A2 NM_006517.4(SLC16A2): c.-53A> C single nucleotide variant Uncertain significance rs587784385 GRCh37 Chromosome X, 73641420: 73641420
31 SLC16A2 NM_006517.4(SLC16A2): c.-53A> C single nucleotide variant Uncertain significance rs587784385 GRCh38 Chromosome X, 74421585: 74421585
32 SLC16A2 NM_006517.4(SLC16A2): c.277C> T (p.Gln93Ter) single nucleotide variant Pathogenic rs587784386 GRCh37 Chromosome X, 73641749: 73641749
33 SLC16A2 NM_006517.4(SLC16A2): c.277C> T (p.Gln93Ter) single nucleotide variant Pathogenic rs587784386 GRCh38 Chromosome X, 74421914: 74421914
34 SLC16A2 NM_006517.4(SLC16A2): c.449C> A (p.Ala150Glu) single nucleotide variant Likely pathogenic rs104894936 GRCh37 Chromosome X, 73740843: 73740843
35 SLC16A2 NM_006517.4(SLC16A2): c.449C> A (p.Ala150Glu) single nucleotide variant Likely pathogenic rs104894936 GRCh38 Chromosome X, 74521008: 74521008
36 SLC16A2 NM_006517.4(SLC16A2): c.916C> T (p.Gln306Ter) single nucleotide variant Pathogenic rs587784382 GRCh37 Chromosome X, 73744534: 73744534
37 SLC16A2 NM_006517.4(SLC16A2): c.916C> T (p.Gln306Ter) single nucleotide variant Pathogenic rs587784382 GRCh38 Chromosome X, 74524699: 74524699
38 SLC16A2 NM_006517.4(SLC16A2): c.979G> A (p.Gly327Arg) single nucleotide variant Likely pathogenic rs587784383 GRCh37 Chromosome X, 73744597: 73744597
39 SLC16A2 NM_006517.4(SLC16A2): c.979G> A (p.Gly327Arg) single nucleotide variant Likely pathogenic rs587784383 GRCh38 Chromosome X, 74524762: 74524762
40 SLC16A2 NM_006517.4(SLC16A2): c.1111C> T (p.Arg371Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587784384 GRCh37 Chromosome X, 73745669: 73745669
41 SLC16A2 NM_006517.4(SLC16A2): c.1111C> T (p.Arg371Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587784384 GRCh38 Chromosome X, 74525834: 74525834
42 SLC16A2 NM_006517.4(SLC16A2): c.256delC (p.Arg86Alafs) deletion Pathogenic rs797045965 GRCh38 Chromosome X, 74421893: 74421893
43 SLC16A2 NM_006517.4(SLC16A2): c.256delC (p.Arg86Alafs) deletion Pathogenic rs797045965 GRCh37 Chromosome X, 73641728: 73641728
44 SLC16A2 NM_006517.4(SLC16A2): c.374delA (p.Tyr125Serfs) deletion Pathogenic rs797045966 GRCh37 Chromosome X, 73641846: 73641846
45 SLC16A2 NM_006517.4(SLC16A2): c.374delA (p.Tyr125Serfs) deletion Pathogenic rs797045966 GRCh38 Chromosome X, 74422011: 74422011
46 SLC16A2 NM_006517.5(SLC16A2): c.940C> T (p.Arg314Ter) single nucleotide variant Pathogenic rs766773277 GRCh38 Chromosome X, 74524723: 74524723
47 SLC16A2 NM_006517.5(SLC16A2): c.940C> T (p.Arg314Ter) single nucleotide variant Pathogenic rs766773277 GRCh37 Chromosome X, 73744558: 73744558
48 SLC16A2 NM_006517.4(SLC16A2): c.1392dupC (p.Ile465Hisfs) duplication Pathogenic rs797045962 GRCh38 Chromosome X, 74529434: 74529434
49 SLC16A2 NM_006517.4(SLC16A2): c.1392dupC (p.Ile465Hisfs) duplication Pathogenic rs797045962 GRCh37 Chromosome X, 73749269: 73749269
50 SLC16A2 NM_006517.4(SLC16A2): c.1474_1481delGTAATCCT (p.Val492Leufs) deletion Pathogenic rs797045963 GRCh37 Chromosome X, 73751242: 73751249

Expression for Allan-Herndon-Dudley Syndrome

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

Pathways for Allan-Herndon-Dudley Syndrome

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

# Super pathways Score Top Affiliating Genes
1 11.02 SLC16A2 SLCO1C1

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 regulation of transcription by RNA polymerase II GO:0006357 9.33 DACH2 ZMYM3 ZNF711
2 sodium-independent organic anion transport GO:0043252 8.96 SLC16A2 SLCO1C1
3 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 DNA binding GO:0003677 9.46 DACH2 LHX1 ZMYM3 ZNF711
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.26 DACH2 LHX1 ZMYM3 ZNF711
3 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....