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AHDS
MCID: ALL001
MIFTS: 56

Allan-Herndon-Dudley Syndrome (AHDS)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Allan-Herndon-Dudley Syndrome

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MalaCards integrated aliases for Allan-Herndon-Dudley Syndrome:

Name: Allan-Herndon-Dudley Syndrome 56 12 74 52 25 58 73 36 29 13 6 43 15 71
Allan-Herndon Syndrome 56 12 52 25
Ahds 56 52 58 73
Monocarboxylate Transporter 8 Deficiency 56 58 73
Mental Retardation, X-Linked, with Hypotonia 56 25
Mct8 Deficiency 58 73
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency 25
X-Linked Intellectual Disability-Hypotonia Syndrome 58
X-Linked Intellectual Disability with Hypotonia 52
Intellectual Disability and Muscular Atrophy 52
Monocarboxylate Transporter 8 Deficiency 25
Monocarboxylate Transporter-8 Deficiency 52
Mental Retardation and Muscular Atrophy 56
Syndrome, Allan-Herndon-Dudley 39
Triiodothyronine Resistance 56
Triiodothyronine Resistence 52
T3 Resisitence 52
T3 Resistance 56

Characteristics:

Orphanet epidemiological data:

58
allan-herndon-dudley syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: any age;

OMIM:

56
Miscellaneous:
onset at birth
heterozygous females may have milder thyroid phenotype and no neurologic abnormalities
no peripheral signs of hypothyroidism

Inheritance:
x-linked


HPO:

31
allan-herndon-dudley syndrome:
Onset and clinical course congenital onset
Inheritance x-linked dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


Sources

Summaries for Allan-Herndon-Dudley Syndrome

About this section
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. Most children with Allan-Herndon-Dudley syndrome have weak muscle tone (hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they get older, they usually develop joint deformities called contractures, which restrict the movement of certain joints. Abnormal muscle stiffness (spasticity), muscle weakness, and involuntary movements of the arms and legs also limit mobility. As a result, many people with Allan-Herndon-Dudley syndrome are unable to walk independently and become wheelchair-bound by adulthood.

MalaCards based summary : Allan-Herndon-Dudley Syndrome, also known as allan-herndon syndrome, is related to hyperthyroidism and graves disease 1, and has symptoms including clonus and ataxia. An important gene associated with Allan-Herndon-Dudley Syndrome is SLC16A2 (Solute Carrier Family 16 Member 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Angiopoietin Like Protein 8 Regulatory Pathway. The drugs Pseudoephedrine and Ephedrine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and eye, and related phenotypes are hyperreflexia and ataxia

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.

NIH Rare Diseases : 52 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.

KEGG : 36 Allan-Herndon-Dudley syndrome (AHDS) is an X-linked mental retardation syndrome with neuromuscular involvement characterized by hypotonia, muscular hypoplasia and intellectual deficit. AHDS is caused by mutations in the SLC16A2 gene, encoding MCT8 which is a specific transporter for thyroid hormone T3.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Allan-Herndon-Dudley syndrome is a rare X-linked inherited disorder of brain development that causes... more...

More information from OMIM: 300523
Sources

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:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 hyperthyroidism 29.5 TRH THRB SLCO1C1 SLC16A2 SERPINA7
2 graves disease 1 29.5 TRH THRB SLC16A2 SERPINA7 DIO2
3 hypothyroidism 29.2 TRH THRB THRA SERPINA7 DIO3 DIO2
4 graves' disease 28.9 THRB SERPINA7 DIO2
5 mct8-specific thyroid hormone cell-membrane transporter deficiency 12.4
6 pelizaeus-merzbacher-like disease 11.8
7 alagille syndrome 1 11.4
8 alveolar echinococcosis 11.3
9 hypotonia 11.1
10 paraplegia 11.0
11 alacrima, achalasia, and mental retardation syndrome 11.0
12 spasticity 10.9
13 dystonia 10.9
14 scoliosis 10.8
15 hereditary spastic paraplegia 10.8
16 hypertonia 10.8
17 monocular esotropia 10.7
18 muscular atrophy 10.7
19 pathologic nystagmus 10.7
20 esotropia 10.7
21 dystonia 12 10.5
22 pectus excavatum 10.5
23 strabismus 10.5
24 mental retardation, x-linked, syndromic, claes-jensen type 10.5
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
26 aspiration pneumonia 10.5
27 sensorineural hearing loss 10.5
28 leukodystrophy 10.5
29 microphthalmia 10.5
30 microcephaly 10.5
31 cerebral palsy 10.5
32 placental choriocarcinoma 10.5
33 choriocarcinoma 10.5
34 movement disease 10.5
35 mechanical strabismus 10.5
36 diencephalic-mesencephalic junction dysplasia syndrome 1 10.3
37 ataxia and polyneuropathy, adult-onset 10.3
38 echinococcosis 10.2
39 wilson disease 10.1
40 hemosiderosis 10.1
41 hepatic coma 10.1
42 diarrhea 10.1
43 hepatic encephalopathy 10.1
44 liver disease 10.1
45 adenoma 10.1
46 autoimmune encephalitis 10.1
47 rare hereditary hemochromatosis 10.1
48 thyroid cancer, nonmedullary, 1 10.1
49 thyroid gland papillary carcinoma 10.1
50 thyroid carcinoma 10.1

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



Diseases related to Allan-Herndon-Dudley Syndrome
Sources

Symptoms & Phenotypes for Allan-Herndon-Dudley Syndrome

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Human phenotypes related to Allan-Herndon-Dudley Syndrome:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 bowel incontinence 58 31 hallmark (90%) Very frequent (99-80%) HP:0002607
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
6 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
7 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
8 biparietal narrowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0004422
9 inability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0002540
10 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
11 intellectual disability, progressive 58 31 hallmark (90%) Very frequent (99-80%) HP:0006887
12 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
13 narrow face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000275
14 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
15 abnormality of the neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000464
16 urinary incontinence 58 31 hallmark (90%) Very frequent (99-80%) HP:0000020
17 hypoplasia of the musculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0009004
18 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
19 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
20 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
21 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
22 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
23 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
24 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
25 type i diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100651
26 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
27 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
28 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
29 rotary nystagmus 31 occasional (7.5%) HP:0001583
30 pectus excavatum 31 HP:0000767
31 clonus 31 HP:0002169
32 dysarthria 31 HP:0001260
33 gait disturbance 58 Frequent (79-30%)
34 hypothyroidism 31 HP:0000821
35 pes planus 31 HP:0001763
36 neonatal hypotonia 31 HP:0001319
37 hallux valgus 31 HP:0001822
38 microcephaly 31 HP:0000252
39 flexion contracture 31 HP:0001371
40 feeding difficulties in infancy 31 HP:0008872
41 spastic tetraplegia 31 HP:0002510
42 abnormality of movement 58 Very frequent (99-80%)
43 narrow forehead 31 HP:0000341
44 irritability 31 HP:0000737
45 babinski sign 31 HP:0003487
46 drooling 31 HP:0002307
47 spastic paraplegia 31 HP:0001258
48 leukodystrophy 31 HP:0002415
49 generalized amyotrophy 31 HP:0003700
50 athetosis 31 HP:0002305

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
clonus
ataxia
dysarthria
neonatal hypotonia
more
Head And Neck Head:
microcephaly

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

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

Skeletal Feet:
flat feet
lateral deviation of great toe

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:


clonus, ataxia

MGI Mouse Phenotypes related to Allan-Herndon-Dudley Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 DIO2 DIO3 MFSD2A SECISBP2 SLC16A10 SLC16A2
Sources

Drugs & Therapeutics for Allan-Herndon-Dudley Syndrome

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thyroid Hormone Analog Therapy of Patients With Severe Psychomotor Retardation Caused by Mutations in the MCT8 Thyroid Hormone Transporter: The Triac Trial. Completed NCT02060474 Phase 2 Triac
2 Effects of the Thyroid Hormone Analog Triac on the Neurocognitive Phenotype in Patients With Severe Psychomotor Retardation Caused by Mutations in the MCT8 Thyroid Hormone Transporter: The Triac Trial II Not yet recruiting NCT02396459 Phase 2 Triac
3 Rescue of Infants With Mct8 Deficiency Under Emergency Use Single Patient Expanded Access Treatment Available NCT04143295 Diiodothyropropionic acid

Search NIH Clinical Center for Allan-Herndon-Dudley Syndrome

Cochrane evidence based reviews: allan-herndon-dudley syndrome

Sources

Genetic Tests for Allan-Herndon-Dudley Syndrome

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Genetic tests related to Allan-Herndon-Dudley Syndrome:

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

Anatomical Context for Allan-Herndon-Dudley Syndrome

About this section

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

40
Thyroid, Brain, Eye, Liver, Skeletal Muscle, Bone, Heart
Sources

Publications for Allan-Herndon-Dudley Syndrome

About this section

Articles related to Allan-Herndon-Dudley Syndrome:

(show top 50) (show all 192)
# Title Authors PMID Year
1
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. 61 56 6
15980113 2006
2
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 61 56 6
15889350 2005
3
Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. 61 56 6
1605231 1992
4
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 56 6
14661163 2004
5
Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation? 56 6
8484404 1993
6
Allan-Herndon-Dudley Syndrome 61 6
20301789 2010
7
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. 61 56
18398436 2008
8
Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? 61 56
15364700 2004
9
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation. 56
23568789 2013
10
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. 56
19194886 2009
11
1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency. 56
18319316 2008
12
Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8. 6
18187543 2008
13
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. 56
18166539 2008
14
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. 56
15488219 2004
15
Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction. 56
15150789 2004
16
Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. 6
12871948 2003
17
Further evidence for a fourth gene causing X-linked pure spastic paraplegia. 56
12210342 2002
18
Novel syndromic form of X-linked complicated spastic paraplegia. 56
10982473 2000
19
Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM. 56
7581391 1995
20
X-linked mental retardation: in pursuit of a gene map. 56
8503437 1993
21
Allan-Herndon syndrome--or X-linked cerebral palsy? 56
2035542 1991
22
Allan-Herndon syndrome. I. Clinical studies. 56
2393019 1990
23
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. 56
2393020 1990
24
Conference report: International Workshop on the fragile X and X-linked mental retardation. 56
6369987 1984
25
Recurrence risks in families of children with symmetrical spasticity. 56
870357 1977
26
Is there a difference in the acromiohumeral distances measured on radiographic and magnetic resonance images of the same shoulder with a massive rotator cuff tear? 61
32035821 2020
27
Neural Alterations and Hyperactivity of the Hypothalamic-Pituitary-Thyroid Axis in Oatp1c1 Deficiency. 61
31797746 2020
28
Academic Half-Days: Facilitated Small Groups to Promote Interactive Learning. 61
31914185 2020
29
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency. 61
31332729 2019
30
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations. 61
31410843 2019
31
Identification of inhibitors based on molecular docking: Thyroid hormone transporter MCT8 as a target. 61
31774046 2019
32
What human blood-brain barrier models can tell us about BBB function and drug discovery? 61
31385723 2019
33
Advance healthcare directives in mental health: A qualitative analysis from a Spanish healthcare professional's viewpoint. 61
31215746 2019
34
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial. 61
31377265 2019
35
Triac in the treatment of Allan-Herndon-Dudley syndrome. 61
31377264 2019
36
Clinical Validation of a Dried Blood Spot Assay for 8 Antihypertensive Drugs and 4 Active Metabolites. 61
31593031 2019
37
Comparing Clinical Outcomes After Subacromial Spacer Insertion Versus Other Reconstruction Methods in the Treatment of Irreparable Massive Rotator Cuff Tears. 61
31598526 2019
38
Going Beyond the Guidelines in Individualising the Use of Antihypertensive Drugs in Older Patients. 61
31175614 2019
39
Laparoscopic Management of Choledochal Cysts Associated with Aberrant Hepatic Ducts. 61
31314676 2019
40
Laparoscopic management for aberrant hepatic duct in children with choledochal cysts. 61
31062153 2019
41
Modeling the Biochemical Phenotype of MCT8 Mutations In Vitro: Resolving a Troubling Inconsistency. 61
31127274 2019
42
Oligodendroglial Lineage Cells in Thyroid Hormone-Deprived Conditions. 61
31182964 2019
43
Prevalence of Clostridium perfringens netE and netF toxin genes in the feces of dogs with acute hemorrhagic diarrhea syndrome. 61
30499621 2019
44
Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients. 61
30369548 2019
45
Convergence and Outreach for Successful Implementation of Rashtriya Kishor Swasthya Karyakram. 61
30686869 2018
46
[A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation]. 61
30392207 2018
47
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration. 61
30296914 2018
48
Molecular docking studies of human MCT8 protein with soy isoflavones in Allan-Herndon-Dudley syndrome (AHDS). 61
30345146 2018
49
From zebrafish to human: A comparative approach to elucidate the role of the thyroid hormone transporter MCT8 during brain development. 61
29183795 2018
50
[Clinical and genetic features of five patients with Allan-Herndon-Dudley syndrome]. 61
30098239 2018
Sources

Variations for Allan-Herndon-Dudley Syndrome

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

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC16A2 NM_006517.5(SLC16A2):c.256del (p.Arg86fs)deletion Pathogenic 212191 rs797045965 X:73641726-73641726 X:74421891-74421891
2 SLC16A2 NM_006517.5(SLC16A2):c.374del (p.Tyr125fs)deletion Pathogenic 212192 rs797045966 X:73641846-73641846 X:74422011-74422011
3 SLC16A2 NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter)SNV Pathogenic 212186 rs766773277 X:73744558-73744558 X:74524723-74524723
4 SLC16A2 NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs)duplication Pathogenic 212188 rs797045962 X:73749263-73749264 X:74529428-74529429
5 SLC16A2 NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs)deletion Pathogenic 212189 rs797045963 X:73751240-73751247 X:74531405-74531412
6 SLC16A2 NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro)SNV Pathogenic 11632 rs104894931 X:73749190-73749190 X:74529355-74529355
7 SLC16A2 SLC16A2, 1-BP DEL, 1212Tdeletion Pathogenic 11633
8 SLC16A2 NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val)SNV Pathogenic 11634 rs104894936 X:73740843-73740843 X:74521008-74521008
9 SLC16A2 SLC16A2, EX1DELdeletion Pathogenic 11635
10 SLC16A2 NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)SNV Pathogenic 11636 rs122455132 X:73749067-73749067 X:74529232-74529232
11 SLC16A2 nsv513796deletion Pathogenic 11637
12 SLC16A2 NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro)SNV Pathogenic 11638 rs104894938 X:73751249-73751249 X:74531414-74531414
13 SLC16A2 NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp)SNV Pathogenic 11639 rs104894939 X:73745637-73745637 X:74525802-74525802
14 SLC16A2 NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter)SNV Pathogenic 11640 rs104894940 X:73745679-73745679 X:74525844-74525844
15 SLC16A2 NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter)SNV Pathogenic 159906 rs587784386 X:73641749-73641749 X:74421914-74421914
16 SLC16A2 NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter)SNV Pathogenic 159900 rs587784382 X:73744534-73744534 X:74524699-74524699
17 SLC16A2 NM_006517.5(SLC16A2):c.1613del (p.Pro538fs)deletion Pathogenic 11642 rs113994166 X:73751380-73751380 X:74531545-74531545
18 SLC16A2 NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe)SNV Pathogenic 21463 rs113994162 X:73641831-73641831 X:74421996-74421996
19 SLC16A2 NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro)SNV Pathogenic 42110 rs367543059 X:73749130-73749130 X:74529295-74529295
20 SLC16A2 NM_006517.5(SLC16A2):c.532del (p.Ala178fs)deletion Pathogenic 436739 rs1555989375 X:73740922-73740922 X:74521087-74521087
21 SLC16A2 NM_006517.5(SLC16A2):c.1026+1G>TSNV Pathogenic 436736 rs1555989729 X:73744645-73744645 X:74524810-74524810
22 SLC16A2 NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter)SNV Pathogenic 496891 rs1555989364 X:73740828-73740828 X:74520993-74520993
23 SLC16A2 NM_006517.5(SLC16A2):c.1170+4_1170+7deldeletion Pathogenic 523037 rs1555989846 X:73745729-73745732 X:74525894-74525897
24 SLC16A2 NM_006517.5(SLC16A2):c.1276_1278TTC[1] (p.Phe427del)short repeat Pathogenic 21461 rs113994164 X:73749152-73749154 X:74529317-74529319
25 SLC16A2 NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)SNV Pathogenic 666343 X:73740833-73740833 X:74520998-74520998
26 SLC16A2 NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val)SNV Pathogenic 804030 X:73749139-73749139 X:74529304-74529304
27 SLC16A2 NM_006517.5(SLC16A2):c.1373del (p.Pro458fs)deletion Pathogenic 804031 X:73749249-73749249 X:74529414-74529414
28 SLC16A2 NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)SNV Pathogenic/Likely pathogenic 159902 rs587784384 X:73745669-73745669 X:74525834-74525834
29 SLC16A2 NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)SNV Likely pathogenic 159901 rs587784383 X:73744597-73744597 X:74524762-74524762
30 SLC16A2 NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu)SNV Likely pathogenic 159907 rs104894936 X:73740843-73740843 X:74521008-74521008
31 SLC16A2 NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del)short repeat Likely pathogenic 11641 rs387906501 X:73740855-73740857 X:74521020-74521022
32 SLC16A2 NM_006517.5(SLC16A2):c.407dup (p.Asn136fs)duplication Likely pathogenic 694739 X:73641872-73641873 X:74422037-74422038
33 SLC16A2 NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser)SNV Likely pathogenic 559939 rs1363308293 X:73749267-73749267 X:74529432-74529432
34 SLC16A2 NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys)SNV Uncertain significance 638344 X:73641497-73641497 X:74421662-74421662
35 SLC16A2 NM_006517.5(SLC16A2):c.-53A>CSNV Uncertain significance 159904 rs587784385 X:73641420-73641420 X:74421585-74421585
36 SLC16A2 NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)SNV Benign 21460 rs12849161 X:73744491-73744491 X:74524656-74524656
37 SLC16A2 NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)SNV Benign 21462 rs6647476 X:73641569-73641569 X:74421734-74421734

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

73 (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

Sources

Expression for Allan-Herndon-Dudley Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 12.97 SLCO1C1 SLCO1A2 SLC7A8 SLC1A7 SLC16A2 SLC16A10
2
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 11.84 THRB THRA SLCO1C1 SLC16A2 DIO2
4
Thyroid hormone signaling pathway 36
11.24 THRB THRA SLCO1C1 SLC16A2 SLC16A10 DIO3
5
Selenium Metabolism and Selenoproteins 1
11.1 SECISBP2 DIO3 DIO2
6
Amino acid transport across the plasma membrane 65
Show member pathways
 10.92 SLC7A8 SLC16A10
7
thyroid hormone metabolism I (via deiodination) 1
Show member pathways
 9.76 DIO3 DIO2
Sources

GO Terms for Allan-Herndon-Dudley Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.9 SLCO1C1 SLCO1A2 SLC7A8 SLC1A7 SLC16A2 SLC16A14
2 plasma membrane GO:0005886 9.7 TRH SLCO1C1 SLCO1A2 SLC7A8 SLC1A7 SLC16A2
3 integral component of plasma membrane GO:0005887 9.17 SLCO1C1 SLCO1A2 SLC7A8 SLC16A2 SLC16A14 SLC16A10

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.76 SLCO1C1 SLCO1A2 SLC7A8 SLC1A7 SLC16A2 SLC16A14
2 hormone-mediated signaling pathway GO:0009755 9.7 TRH THRB THRA
3 intracellular receptor signaling pathway GO:0030522 9.62 THRB THRA
4 regulation of heart contraction GO:0008016 9.61 THRB THRA
5 amino acid transmembrane transport GO:0003333 9.61 SLC7A8 SLC16A10
6 bile acid and bile salt transport GO:0015721 9.6 SLCO1C1 SLCO1A2
7 response to lipid GO:0033993 9.59 THRB THRA
8 thyroid gland development GO:0030878 9.58 THRB THRA
9 organic anion transport GO:0015711 9.58 SLCO1C1 SLCO1A2
10 hormone biosynthetic process GO:0042446 9.57 DIO3 DIO2
11 retinal cone cell development GO:0046549 9.56 THRB DIO3
12 thyroid hormone metabolic process GO:0042403 9.55 DIO3 DIO2
13 selenocysteine incorporation GO:0001514 9.54 SECISBP2 DIO2
14 type I pneumocyte differentiation GO:0060509 9.51 THRB THRA
15 sodium-independent organic anion transport GO:0043252 9.5 SLCO1C1 SLCO1A2 SLC16A2
16 thyroid hormone mediated signaling pathway GO:0002154 9.49 THRB THRA
17 retinal cone cell apoptotic process GO:0097474 9.48 THRB DIO3
18 thyroid-stimulating hormone secretion GO:0070460 9.46 SLC16A2 SLC16A10
19 negative regulation of eye photoreceptor cell development GO:0042480 9.43 THRB DIO3
20 monocarboxylic acid transport GO:0015718 9.43 SLC16A2 SLC16A14 SLC16A10
21 thyroid hormone catabolic process GO:0042404 9.4 DIO3 DIO2
22 female courtship behavior GO:0008050 9.37 THRB THRA
23 thyroid hormone generation GO:0006590 9.26 SLC16A2 SLC16A10 DIO3 DIO2
24 thyroid hormone transport GO:0070327 8.92 SLCO1C1 SLC16A2 SLC16A10 SERPINA7

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

# Name GO ID Score Top Affiliating Genes
1 amino acid transmembrane transporter activity GO:0015171 9.46 SLC7A8 SLC16A10
2 symporter activity GO:0015293 9.46 SLC1A7 SLC16A2 SLC16A14 MFSD2A
3 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.43 SLCO1C1 SLCO1A2
4 bile acid transmembrane transporter activity GO:0015125 9.4 SLCO1C1 SLCO1A2
5 organic anion transmembrane transporter activity GO:0008514 9.37 SLCO1C1 SLCO1A2
6 thyroid hormone binding GO:0070324 9.32 THRB THRA
7 thyroxine 5'-deiodinase activity GO:0004800 9.26 DIO3 DIO2
8 monocarboxylic acid transmembrane transporter activity GO:0008028 9.13 SLC16A2 SLC16A14 SLC16A10
9 thyroid hormone transmembrane transporter activity GO:0015349 8.8 SLCO1C1 SLC16A2 SLC16A10
Sources

Sources for Allan-Herndon-Dudley Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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