AHDS
MCID: ALL001
MIFTS: 56

Allan-Herndon-Dudley Syndrome (AHDS)

Categories: Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Allan-Herndon-Dudley Syndrome

MalaCards integrated aliases for Allan-Herndon-Dudley Syndrome:

Name: Allan-Herndon-Dudley Syndrome 56 12 74 24 52 25 58 73 36 29 13 6 43 15 71
Ahds 56 12 52 58 73
Allan-Herndon Syndrome 56 12 52 25
Monocarboxylate Transporter 8 Deficiency 56 58 73
Mct8 Deficiency 24 58 73
Mental Retardation, X-Linked, with Hypotonia 56 25
Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency 24
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:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


Summaries for Allan-Herndon-Dudley Syndrome

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 ahds, is related to pelizaeus-merzbacher-like disease and hyperthyroidism, 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 Angiopoietin Like Protein 8 Regulatory Pathway and Transport of vitamins, nucleosides, and related molecules. The drugs Guaifenesin and Hormones have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and eye, and related phenotypes are intellectual disability, severe and ataxia

Disease Ontology : 12 A syndrome 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.

OMIM : 56 Allan-Herndon-Dudley syndrome (AHDS) is an X-linked condition characterized by severely impaired intellectual development, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. There is large phenotypic interfamilial and intrafamilial variability. In severe cases, patients never gain the ability to walk or talk (summary by Maranduba et al., 2006). (300523)

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...

GeneReviews: NBK26373

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 top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher-like disease 33.1 SLC16A2 PLP1
2 hyperthyroidism 30.6 TRH THRB SLCO1C1 SLC16A2
3 graves disease 1 30.3 TRH THRB SLC16A2 DIO3 DIO2
4 hypothyroidism 29.7 TSHB TRH THRB THRA DIO3 DIO2
5 alagille syndrome 1 11.4
6 alveolar echinococcosis 11.3
7 hypotonia 11.1
8 paraplegia 11.0
9 alacrima, achalasia, and mental retardation syndrome 11.0
10 spasticity 11.0
11 dystonia 10.9
12 scoliosis 10.8
13 hereditary spastic paraplegia 10.8
14 hypertonia 10.8
15 monocular esotropia 10.7
16 muscular atrophy 10.7
17 pathologic nystagmus 10.7
18 esotropia 10.7
19 dystonia 12 10.5
20 pectus excavatum 10.5
21 strabismus 10.5
22 mental retardation, x-linked, syndromic, claes-jensen type 10.5
23 ataxia and polyneuropathy, adult-onset 10.5
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
25 chorea, childhood-onset, with psychomotor retardation 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 choreatic disease 10.5
32 cerebral palsy 10.5
33 placental choriocarcinoma 10.5
34 choriocarcinoma 10.5
35 movement disease 10.5
36 mechanical strabismus 10.5
37 athetosis 10.5
38 diencephalic-mesencephalic junction dysplasia syndrome 1 10.3
39 thyroid crisis 10.3 THRB SLC16A10
40 echinococcosis 10.2
41 fanconi-like syndrome 10.2 SLCO1C1 SLCO1A2
42 generalized resistance to thyroid hormone 10.1 TRH THRB
43 wilson disease 10.1
44 hemosiderosis 10.1
45 hepatic coma 10.1
46 diarrhea 10.1
47 hepatic encephalopathy 10.1
48 liver disease 10.1
49 adenoma 10.1
50 autoimmune encephalitis 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:

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

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
neonatal hypotonia
ataxia
hyperreflexia
dysarthria
clonus
more
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)

Head And Neck Head:
microcephaly

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:


ataxia, clonus

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 DIO2 DIO3 JAG1 PLP1 SECISBP2 SLC16A10
2 homeostasis/metabolism MP:0005376 9.4 DIO2 DIO3 JAG1 PLP1 SECISBP2 SLC16A10

Drugs & Therapeutics for Allan-Herndon-Dudley Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
2 Hormones Phase 2
3 Chlorpheniramine, phenylpropanolamine drug combination 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 Tiratricol Treatment of Children With Monocarboxylate Transporter 8 Deficiency: 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

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:

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

Publications for Allan-Herndon-Dudley Syndrome

Articles related to Allan-Herndon-Dudley Syndrome:

(show top 50) (show all 214)
# Title Authors PMID Year
1
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 61 6 24 56
15889350 2005
2
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 24 6 56
14661163 2004
3
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
4
Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. 61 56 6
1605231 1992
5
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. 61 56 24
18398436 2008
6
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
7
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. 56 24
19194886 2009
8
1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency. 56 24
18319316 2008
9
Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8. 6 24
18187543 2008
10
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. 56 24
15488219 2004
11
Allan-Herndon-Dudley Syndrome 61 6
20301789 2010
12
Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? 56 61
15364700 2004
13
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations. 61 24
31410843 2019
14
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency. 61 24
31332729 2019
15
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. 24 61
31377265 2019
16
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 24 61
27805744 2017
17
Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome. 24 61
25517855 2015
18
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24 61
24721225 2014
19
Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations. 61 24
25247785 2014
20
A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome. 24 61
24170966 2013
21
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
22
A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment. 24 61
21896621 2011
23
Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care. 61 24
21098685 2011
24
Genetics and phenomics of thyroid hormone transport by MCT8. 24 61
20083155 2010
25
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. 24 61
19811520 2010
26
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. 61 24
19018842 2009
27
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. 56
18166539 2008
28
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. 61 24
17574010 2007
29
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
30
Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. 6
12871948 2003
31
Further evidence for a fourth gene causing X-linked pure spastic paraplegia. 56
12210342 2002
32
Novel syndromic form of X-linked complicated spastic paraplegia. 56
10982473 2000
33
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
34
X-linked mental retardation: in pursuit of a gene map. 56
8503437 1993
35
Allan-Herndon syndrome--or X-linked cerebral palsy? 56
2035542 1991
36
Allan-Herndon syndrome. I. Clinical studies. 56
2393019 1990
37
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. 56
2393020 1990
38
Conference report: International Workshop on the fragile X and X-linked mental retardation. 56
6369987 1984
39
Recurrence risks in families of children with symmetrical spasticity. 56
870357 1977
40
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. 24
22805248 2013
41
Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation. 24
22924588 2013
42
Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing. 24
21415082 2011
43
Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine. 24
19147674 2009
44
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. 24
18636565 2009
45
Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier. 24
18687783 2008
46
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. 24
17574009 2007
47
Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. 24
17356046 2007
48
Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. 24
16974106 2007
49
Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8. 24
16957765 2006
50
X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. 24
16417886 2005

Variations for Allan-Herndon-Dudley Syndrome

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

6 (show all 39) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC16A2 NM_006517.5(SLC16A2):c.532del (p.Ala178fs)deletion Pathogenic 436739 rs1555989375 X:73740922-73740922 X:74521087-74521087
2 SLC16A2 NM_006517.5(SLC16A2):c.1026+1G>TSNV Pathogenic 436736 rs1555989729 X:73744645-73744645 X:74524810-74524810
3 SLC16A2 NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter)SNV Pathogenic 496891 rs1555989364 X:73740828-73740828 X:74520993-74520993
4 SLC16A2 NM_006517.5(SLC16A2):c.1170+4_1170+7deldeletion Pathogenic 523037 rs1555989846 X:73745729-73745732 X:74525894-74525897
5 SLC16A2 NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val)SNV Pathogenic 804030 X:73749139-73749139 X:74529304-74529304
6 SLC16A2 NM_006517.5(SLC16A2):c.1373del (p.Pro458fs)deletion Pathogenic 804031 X:73749249-73749249 X:74529414-74529414
7 SLC16A2 SLC16A2, 1-BP DEL, 1212Tdeletion Pathogenic 11633
8 SLC16A2 NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro)SNV Pathogenic 11632 rs104894931 X:73749190-73749190 X:74529355-74529355
9 SLC16A2 NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val)SNV Pathogenic 11634 rs104894936 X:73740843-73740843 X:74521008-74521008
10 SLC16A2 SLC16A2, EX1DELdeletion Pathogenic 11635
11 SLC16A2 NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)SNV Pathogenic 11636 rs122455132 X:73749067-73749067 X:74529232-74529232
12 SLC16A2 nsv513796deletion Pathogenic 11637
13 SLC16A2 NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro)SNV Pathogenic 11638 rs104894938 X:73751249-73751249 X:74531414-74531414
14 SLC16A2 NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp)SNV Pathogenic 11639 rs104894939 X:73745637-73745637 X:74525802-74525802
15 SLC16A2 NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter)SNV Pathogenic 11640 rs104894940 X:73745679-73745679 X:74525844-74525844
16 SLC16A2 NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)SNV Pathogenic 666343 X:73740833-73740833 X:74520998-74520998
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.1276_1278TTC[1] (p.Phe427del)short repeat Pathogenic 21461 rs113994164 X:73749152-73749154 X:74529317-74529319
19 SLC16A2 NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe)SNV Pathogenic 21463 rs113994162 X:73641831-73641831 X:74421996-74421996
20 SLC16A2 NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro)SNV Pathogenic 42110 rs367543059 X:73749130-73749130 X:74529295-74529295
21 SLC16A2 NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter)SNV Pathogenic 159906 rs587784386 X:73641749-73641749 X:74421914-74421914
22 SLC16A2 NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter)SNV Pathogenic 159900 rs587784382 X:73744534-73744534 X:74524699-74524699
23 SLC16A2 NM_006517.5(SLC16A2):c.256del (p.Arg86fs)deletion Pathogenic 212191 rs797045965 X:73641726-73641726 X:74421891-74421891
24 SLC16A2 NM_006517.5(SLC16A2):c.374del (p.Tyr125fs)deletion Pathogenic 212192 rs797045966 X:73641846-73641846 X:74422011-74422011
25 SLC16A2 NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter)SNV Pathogenic 212186 rs766773277 X:73744558-73744558 X:74524723-74524723
26 SLC16A2 NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs)duplication Pathogenic 212188 rs797045962 X:73749263-73749264 X:74529428-74529429
27 SLC16A2 NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs)deletion Pathogenic 212189 rs797045963 X:73751240-73751247 X:74531405-74531412
28 SLC16A2 NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del)short repeat Pathogenic/Likely pathogenic 11641 rs387906501 X:73740855-73740857 X:74521020-74521022
29 SLC16A2 NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)SNV Pathogenic/Likely pathogenic 159902 rs587784384 X:73745669-73745669 X:74525834-74525834
30 SLC16A2 NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser)SNV Likely pathogenic 559939 rs1363308293 X:73749267-73749267 X:74529432-74529432
31 SLC16A2 NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)SNV Likely pathogenic 159901 rs587784383 X:73744597-73744597 X:74524762-74524762
32 SLC16A2 NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu)SNV Likely pathogenic 159907 rs104894936 X:73740843-73740843 X:74521008-74521008
33 SLC16A2 NM_006517.5(SLC16A2):c.407dup (p.Asn136fs)duplication Likely pathogenic 694739 X:73641872-73641873 X:74422037-74422038
34 SLC16A2 NM_006517.5(SLC16A2):c.-53A>CSNV Uncertain significance 159904 rs587784385 X:73641420-73641420 X:74421585-74421585
35 SLC16A2 NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys)SNV Uncertain significance 638344 X:73641497-73641497 X:74421662-74421662
36 SLC16A2 NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr)SNV Uncertain significance 813901 X:73740842-73740842 X:74521007-74521007
37 SLC16A2 NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp)SNV Uncertain significance 915409 X:73744285-73744285 X:74524450-74524450
38 SLC16A2 NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)SNV Benign 21462 rs6647476 X:73641569-73641569 X:74421734-74421734
39 SLC16A2 NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)SNV Benign 21460 rs12849161 X:73744491-73744491 X:74524656-74524656

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

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

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 9.97 SLCO1C1 SLCO1A2 SLC7A8 SLC1A7 SLC16A5 SLC16A2
2 integral component of plasma membrane GO:0005887 9.56 SLCO1C1 SLCO1A2 SLC7A8 SLC16A5 SLC16A2 SLC16A12
3 plasma membrane GO:0005886 9.47 TRH SLCO1C1 SLCO1A2 SLC7A8 SLC1A7 SLC16A5

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.77 THRB THRA JAG1
2 transmembrane transport GO:0055085 9.76 SLCO1C1 SLCO1A2 SLC7A8 SLC1A7 SLC16A5 SLC16A2
3 hormone-mediated signaling pathway GO:0009755 9.62 TSHB TRH THRB THRA
4 bile acid and bile salt transport GO:0015721 9.6 SLCO1C1 SLCO1A2
5 thyroid gland development GO:0030878 9.58 THRB THRA
6 organic anion transport GO:0015711 9.58 SLCO1C1 SLCO1A2
7 hormone biosynthetic process GO:0042446 9.57 DIO3 DIO2
8 retinal cone cell development GO:0046549 9.56 THRB DIO3
9 thyroid hormone metabolic process GO:0042403 9.55 DIO3 DIO2
10 selenocysteine incorporation GO:0001514 9.54 SECISBP2 DIO2
11 sodium-independent organic anion transport GO:0043252 9.54 SLCO1C1 SLCO1A2 SLC16A2
12 type I pneumocyte differentiation GO:0060509 9.52 THRB THRA
13 thyroid hormone mediated signaling pathway GO:0002154 9.51 THRB THRA
14 retinal cone cell apoptotic process GO:0097474 9.49 THRB DIO3
15 thyroid-stimulating hormone secretion GO:0070460 9.48 SLC16A2 SLC16A10
16 negative regulation of eye photoreceptor cell development GO:0042480 9.46 THRB DIO3
17 thyroid hormone catabolic process GO:0042404 9.43 DIO3 DIO2
18 thyroid hormone transport GO:0070327 9.43 SLCO1C1 SLC16A2 SLC16A10
19 female courtship behavior GO:0008050 9.4 THRB THRA
20 thyroid hormone generation GO:0006590 9.26 SLC16A2 SLC16A10 DIO3 DIO2
21 monocarboxylic acid transport GO:0015718 8.92 SLC16A5 SLC16A2 SLC16A12 SLC16A10

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.56 SLC1A7 SLC16A5 SLC16A2 SLC16A12
2 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 9.48 THRB THRA
3 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.46 SLCO1C1 SLCO1A2
4 bile acid transmembrane transporter activity GO:0015125 9.43 SLCO1C1 SLCO1A2
5 organic anion transmembrane transporter activity GO:0008514 9.4 SLCO1C1 SLCO1A2
6 thyroid hormone binding GO:0070324 9.37 THRB THRA
7 thyroxine 5'-deiodinase activity GO:0004800 9.32 DIO3 DIO2
8 thyroxine 5-deiodinase activity GO:0033798 9.16 DIO3 DIO2
9 thyroid hormone transmembrane transporter activity GO:0015349 9.13 SLCO1C1 SLC16A2 SLC16A10
10 monocarboxylic acid transmembrane transporter activity GO:0008028 8.92 SLC16A5 SLC16A2 SLC16A12 SLC16A10

Sources for Allan-Herndon-Dudley Syndrome

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
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