AHDS
MCID: ALL001
MIFTS: 54

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 57 12 73 25 20 43 58 72 36 29 13 6 44 15 70
Ahds 57 12 20 58 72
Allan-Herndon Syndrome 57 12 20 43
Monocarboxylate Transporter 8 Deficiency 57 58 72
Mct8 Deficiency 25 58 72
Mental Retardation, X-Linked, with Hypotonia 57 43
Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency 25
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency 43
X-Linked Intellectual Disability-Hypotonia Syndrome 58
X-Linked Intellectual Disability with Hypotonia 20
Intellectual Disability and Muscular Atrophy 20
Monocarboxylate Transporter 8 Deficiency 43
Monocarboxylate Transporter-8 Deficiency 20
Mental Retardation and Muscular Atrophy 57
Syndrome, Allan-Herndon-Dudley 39
Triiodothyronine Resistance 57
Triiodothyronine Resistence 20
T3 Resisitence 20
T3 Resistance 57

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®:

57 (Updated 05-Apr-2021)
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 recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


Summaries for Allan-Herndon-Dudley Syndrome

MedlinePlus Genetics : 43 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 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 Guaifenesin and Phenylpropanolamine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and skeletal muscle, and related phenotypes are hyperreflexia 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.

GARD : 20 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® : 57 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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 64)
# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher-like disease 32.2 SLC16A2 PLP1
2 hyperthyroidism 30.0 TRH THRB SLCO1C1 SLC16A2 SERPINA7
3 graves disease 1 29.8 TRH THRB SLC16A2 SERPINA7 DIO3 DIO2
4 graves' disease 29.6 THRB SERPINA7 DIO2
5 hypothyroidism 29.3 TSHB TRH THRB THRA SERPINA7 DIO3
6 congenital hypothyroidism 28.7 TSHB TRH THRA SLC16A2 SERPINA7 DIO2
7 hypotonia 10.9
8 paraplegia 10.8
9 alacrima, achalasia, and mental retardation syndrome 10.8
10 spasticity 10.7
11 dystonia 10.7
12 scoliosis 10.6
13 hereditary spastic paraplegia 10.6
14 hypertonia 10.6
15 ataxia and polyneuropathy, adult-onset 10.5
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
17 monocular esotropia 10.5
18 muscular atrophy 10.5
19 pathologic nystagmus 10.5
20 esotropia 10.5
21 pelizaeus-merzbacher disease 10.3
22 dystonia 12 10.3
23 pectus excavatum 10.3
24 strabismus 10.3
25 mental retardation, x-linked, syndromic, claes-jensen type 10.3
26 chorea, childhood-onset, with psychomotor retardation 10.3
27 aspiration pneumonia 10.3
28 sensorineural hearing loss 10.3
29 leukodystrophy 10.3
30 microphthalmia 10.3
31 microcephaly 10.3
32 choreatic disease 10.3
33 cerebral palsy 10.3
34 placental choriocarcinoma 10.3
35 choriocarcinoma 10.3
36 movement disease 10.3
37 mechanical strabismus 10.3
38 athetosis 10.3
39 fanconi-like syndrome 10.2 SLCO1C1 SLCO1A2
40 generalized resistance to thyroid hormone 10.2 TRH THRB
41 diencephalic-mesencephalic junction dysplasia syndrome 1 10.2
42 mixed cerebral palsy 10.1 TRH SLC16A2
43 thyroid cancer, nonmedullary, 1 10.1
44 demyelinating disease 10.1
45 thyroid carcinoma 10.1
46 thyroid crisis 10.1 SLC16A10 SERPINA7
47 toxic diffuse goiter 10.1 SERPINA7 DIO2
48 syndromes of reduced sensitivity to thyroid hormone 10.1 THRA SECISBP2
49 extrahepatic bile duct adenocarcinoma 10.0 SLC7A8 SLC1A7
50 neonatal thyrotoxicosis 10.0 THRA SLC16A2 DIO3 DIO2

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 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 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
7 biparietal narrowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0004422
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 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 clonus 31 HP:0002169
31 dysarthria 31 HP:0001260
32 gait disturbance 58 Frequent (79-30%)
33 hypothyroidism 31 HP:0000821
34 pes planus 31 HP:0001763
35 microcephaly 31 HP:0000252
36 neonatal hypotonia 31 HP:0001319
37 flexion contracture 31 HP:0001371
38 feeding difficulties in infancy 31 HP:0008872
39 spastic tetraplegia 31 HP:0002510
40 abnormality of movement 58 Very frequent (99-80%)
41 pectus excavatum 31 HP:0000767
42 irritability 31 HP:0000737
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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Allan-Herndon-Dudley Syndrome:


clonus; ataxia

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
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 2 14838-15-4 26934
3 Hormones Phase 2
4 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 Integrating the Diagnosis and Management of HIV-associated Central Nervous System (CNS) Infections Into Routine Health Services in Low and Middle Income Countries (LMICs) Recruiting NCT03226379
4 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, Skeletal Muscle, Eye, Bone, Heart, Liver

Publications for Allan-Herndon-Dudley Syndrome

Articles related to Allan-Herndon-Dudley Syndrome:

(show top 50) (show all 233)
# Title Authors PMID Year
1
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. 25 6 57 61
15889350 2005
2
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. 25 57 6
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. 57 6 61
15980113 2006
4
Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. 61 57 6
1605231 1992
5
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 25 6 61
24721225 2014
6
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. 25 57 61
18398436 2008
7
Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation? 57 6
8484404 1993
8
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. 25 57
19194886 2009
9
1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency. 25 57
18319316 2008
10
Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8. 6 25
18187543 2008
11
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. 25 57
15488219 2004
12
Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? 61 57
15364700 2004
13
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations. 61 25
31410843 2019
14
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency. 61 25
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. 61 25
31377265 2019
16
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 25 61
27805744 2017
17
Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome. 61 25
25517855 2015
18
Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations. 6
25527620 2015
19
The role of Arg445 and Asp498 in the human thyroid hormone transporter MCT8. 6
24265446 2014
20
Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations. 25 61
25247785 2014
21
A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome. 25 61
24170966 2013
22
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation. 57
23568789 2013
23
A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment. 61 25
21896621 2011
24
Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care. 61 25
21098685 2011
25
Genetics and phenomics of thyroid hormone transport by MCT8. 61 25
20083155 2010
26
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. 25 61
19811520 2010
27
Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. 61 25
19018842 2009
28
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. 57
18166539 2008
29
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. 61 25
17574010 2007
30
Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction. 57
15150789 2004
31
Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. 6
12871948 2003
32
Further evidence for a fourth gene causing X-linked pure spastic paraplegia. 57
12210342 2002
33
Novel syndromic form of X-linked complicated spastic paraplegia. 57
10982473 2000
34
Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM. 57
7581391 1995
35
X-linked mental retardation: in pursuit of a gene map. 57
8503437 1993
36
Allan-Herndon syndrome--or X-linked cerebral palsy? 57
2035542 1991
37
Allan-Herndon syndrome. I. Clinical studies. 57
2393019 1990
38
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. 57
2393020 1990
39
Conference report: International Workshop on the fragile X and X-linked mental retardation. 57
6369987 1984
40
Recurrence risks in families of children with symmetrical spasticity. 57
870357 1977
41
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. 25
22805248 2013
42
Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation. 25
22924588 2013
43
Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing. 25
21415082 2011
44
Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine. 25
19147674 2009
45
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. 25
18636565 2009
46
Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier. 25
18687783 2008
47
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. 25
17574009 2007
48
Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. 25
17356046 2007
49
Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. 25
16974106 2007
50
Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8. 25
16957765 2006

Variations for Allan-Herndon-Dudley Syndrome

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

6 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC16A2 NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro) SNV Pathogenic 11632 rs104894931 GRCh37: X:73749190-73749190
GRCh38: X:74529355-74529355
2 SLC16A2 SLC16A2, 1-BP DEL, 1212T Deletion Pathogenic 11633 GRCh37:
GRCh38:
3 SLC16A2 SLC16A2, EX1DEL Deletion Pathogenic 11635 GRCh37:
GRCh38:
4 SLC16A2 NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro) SNV Pathogenic 11636 rs122455132 GRCh37: X:73749067-73749067
GRCh38: X:74529232-74529232
5 SLC16A2 nsv513796 Deletion Pathogenic 11637 GRCh37:
GRCh38:
6 SLC16A2 NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) SNV Pathogenic 11638 rs104894938 GRCh37: X:73751249-73751249
GRCh38: X:74531414-74531414
7 SLC16A2 NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) SNV Pathogenic 11639 rs104894939 GRCh37: X:73745637-73745637
GRCh38: X:74525802-74525802
8 SLC16A2 NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter) SNV Pathogenic 11640 rs104894940 GRCh37: X:73745679-73745679
GRCh38: X:74525844-74525844
9 SLC16A2 NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) Deletion Pathogenic 11642 rs113994166 GRCh37: X:73751380-73751380
GRCh38: X:74531545-74531545
10 SLC16A2 NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs) Duplication Pathogenic 212188 rs797045962 GRCh37: X:73749263-73749264
GRCh38: X:74529428-74529429
11 SLC16A2 NM_006517.5(SLC16A2):c.256del (p.Arg86fs) Deletion Pathogenic 212191 rs797045965 GRCh37: X:73641726-73641726
GRCh38: X:74421891-74421891
12 SLC16A2 NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs) Deletion Pathogenic 212189 rs797045963 GRCh37: X:73751240-73751247
GRCh38: X:74531405-74531412
13 SLC16A2 NM_006517.5(SLC16A2):c.374del (p.Tyr125fs) Deletion Pathogenic 212192 rs797045966 GRCh37: X:73641846-73641846
GRCh38: X:74422011-74422011
14 SLC16A2 NM_006517.5(SLC16A2):c.1026+1G>T SNV Pathogenic 436736 rs1555989729 GRCh37: X:73744645-73744645
GRCh38: X:74524810-74524810
15 SLC16A2 NM_006517.5(SLC16A2):c.532del (p.Ala178fs) Deletion Pathogenic 436739 rs1555989375 GRCh37: X:73740922-73740922
GRCh38: X:74521087-74521087
16 SLC16A2 NM_006517.5(SLC16A2):c.1170+4_1170+7del Deletion Pathogenic 523037 rs1555989846 GRCh37: X:73745729-73745732
GRCh38: X:74525894-74525897
17 SLC16A2 NM_006517.5(SLC16A2):c.1276_1278TTC[1] (p.Phe427del) Microsatellite Pathogenic 21461 rs113994164 GRCh37: X:73749152-73749154
GRCh38: X:74529317-74529319
18 SLC16A2 NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe) SNV Pathogenic 21463 rs113994162 GRCh37: X:73641831-73641831
GRCh38: X:74421996-74421996
19 SLC16A2 NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro) SNV Pathogenic 42110 rs367543059 GRCh37: X:73749130-73749130
GRCh38: X:74529295-74529295
20 SLC16A2 NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter) SNV Pathogenic 159900 rs587784382 GRCh37: X:73744534-73744534
GRCh38: X:74524699-74524699
21 SLC16A2 NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter) SNV Pathogenic 159906 rs587784386 GRCh37: X:73641749-73641749
GRCh38: X:74421914-74421914
22 SLC16A2 NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg) SNV Pathogenic 666343 rs1602140936 GRCh37: X:73740833-73740833
GRCh38: X:74520998-74520998
23 SLC16A2 NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter) SNV Pathogenic 496891 rs1555989364 GRCh37: X:73740828-73740828
GRCh38: X:74520993-74520993
24 SLC16A2 NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val) SNV Pathogenic 804030 rs1602143383 GRCh37: X:73749139-73749139
GRCh38: X:74529304-74529304
25 SLC16A2 NM_006517.5(SLC16A2):c.1373del (p.Pro458fs) Deletion Pathogenic 804031 rs1602143432 GRCh37: X:73749249-73749249
GRCh38: X:74529414-74529414
26 SLC16A2 NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter) SNV Pathogenic 212186 rs766773277 GRCh37: X:73744558-73744558
GRCh38: X:74524723-74524723
27 SLC16A2 NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) SNV Pathogenic 11634 rs104894936 GRCh37: X:73740843-73740843
GRCh38: X:74521008-74521008
28 SLC16A2 Insertion Pathogenic 929441 GRCh37:
GRCh38:
29 SLC16A2 NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter) SNV Pathogenic 1031649 GRCh37: X:73745628-73745628
GRCh38: X:74525793-74525793
30 SLC16A2 NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter) SNV Pathogenic 1031650 GRCh37: X:73744590-73744590
GRCh38: X:74524755-74524755
31 SLC16A2 NM_006517.5(SLC16A2):c.435G>A (p.Trp145Ter) SNV Likely pathogenic 982801 GRCh37: X:73740829-73740829
GRCh38: X:74520994-74520994
32 SLC16A2 NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del) Microsatellite Likely pathogenic 11641 rs387906501 GRCh37: X:73740855-73740857
GRCh38: X:74521020-74521022
33 SLC16A2 NM_006517.5(SLC16A2):c.407dup (p.Asn136fs) Duplication Likely pathogenic 694739 rs1602099961 GRCh37: X:73641872-73641873
GRCh38: X:74422037-74422038
34 SLC16A2 NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu) SNV Likely pathogenic 159907 rs104894936 GRCh37: X:73740843-73740843
GRCh38: X:74521008-74521008
35 SLC16A2 NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) SNV Likely pathogenic 159901 rs587784383 GRCh37: X:73744597-73744597
GRCh38: X:74524762-74524762
36 SLC16A2 NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) SNV Likely pathogenic 159902 rs587784384 GRCh37: X:73745669-73745669
GRCh38: X:74525834-74525834
37 SLC16A2 NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser) SNV Likely pathogenic 559939 rs1363308293 GRCh37: X:73749267-73749267
GRCh38: X:74529432-74529432
38 SLC16A2 NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys) SNV Uncertain significance 638344 rs933036653 GRCh37: X:73641497-73641497
GRCh38: X:74421662-74421662
39 SLC16A2 NM_006517.5(SLC16A2):c.-53A>C SNV Uncertain significance 159904 rs587784385 GRCh37: X:73641420-73641420
GRCh38: X:74421585-74421585
40 SLC16A2 NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr) SNV Uncertain significance 813901 rs373279555 GRCh37: X:73740842-73740842
GRCh38: X:74521007-74521007
41 SLC16A2 NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg) SNV Uncertain significance 1031053 GRCh37: X:73641806-73641806
GRCh38: X:74421971-74421971
42 SLC16A2 NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp) SNV Uncertain significance 915409 GRCh37: X:73744285-73744285
GRCh38: X:74524450-74524450
43 SLC16A2 NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) SNV Benign 21460 rs12849161 GRCh37: X:73744491-73744491
GRCh38: X:74524656-74524656
44 SLC16A2 NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) SNV Benign 21462 rs6647476 GRCh37: X:73641569-73641569
GRCh38: X:74421734-74421734

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

72 (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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 SLCO1C1 SLCO1A2 SLC7A8 SLC1A7 SLC16A2 SLC16A10
2
Show member pathways
11.84 THRB THRA SLCO1C1 SLC16A2 DIO2
4 11.25 THRB THRA SLCO1C1 SLC16A2 SLC16A10 DIO3
5
Show member pathways
10.93 TSHB DIO3 DIO2
6
Show member pathways
10.92 SLC7A8 SLC16A10
7
Show member pathways
9.86 DIO3 DIO2

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 plasma membrane GO:0005887 9.43 SLCO1C1 SLCO1A2 SLC7A8 SLC16A5 SLC16A2 SLC16A10
2 plasma membrane GO:0005886 9.4 TRH SLCO1C1 SLCO1A2 SLC7A8 SLC1A7 SLC16A5

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.8 SLCO1C1 SLCO1A2 SLC7A8 SLC1A7 SLC16A5 SLC16A2
2 bile acid and bile salt transport GO:0015721 9.58 SLCO1C1 SLCO1A2
3 organic anion transport GO:0015711 9.58 SLCO1C1 SLCO1A2
4 monocarboxylic acid transport GO:0015718 9.57 SLC16A5 SLC16A2
5 amino acid import across plasma membrane GO:0089718 9.56 SLC7A8 SLC16A2
6 retinal cone cell development GO:0046549 9.55 THRB DIO3
7 hormone biosynthetic process GO:0042446 9.54 DIO3 DIO2
8 sodium-independent organic anion transport GO:0043252 9.54 SLCO1C1 SLCO1A2 SLC16A2
9 selenocysteine incorporation GO:0001514 9.52 SECISBP2 DIO2
10 type I pneumocyte differentiation GO:0060509 9.51 THRB THRA
11 thyroid hormone generation GO:0006590 9.5 SLC16A10 DIO3 DIO2
12 thyroid hormone mediated signaling pathway GO:0002154 9.49 THRB THRA
13 retinal cone cell apoptotic process GO:0097474 9.48 THRB DIO3
14 negative regulation of eye photoreceptor cell development GO:0042480 9.46 THRB DIO3
15 thyroid hormone catabolic process GO:0042404 9.43 DIO3 DIO2
16 female courtship behavior GO:0008050 9.4 THRB THRA
17 thyroid hormone metabolic process GO:0042403 9.33 SLC16A2 DIO3 DIO2
18 hormone-mediated signaling pathway GO:0009755 9.26 TSHB TRH THRB THRA
19 thyroid hormone transport GO:0070327 9.02 SLCO1C1 SLC7A8 SLC16A2 SLC16A10 SERPINA7

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.67 SLC1A7 SLC16A5 SLC16A2
2 amino acid transmembrane transporter activity GO:0015171 9.5 SLC7A8 SLC16A2 SLC16A10
3 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.48 SLCO1C1 SLCO1A2
4 monocarboxylic acid transmembrane transporter activity GO:0008028 9.46 SLC16A5 SLC16A2
5 organic anion transmembrane transporter activity GO:0008514 9.43 SLCO1C1 SLCO1A2
6 transmembrane transporter activity GO:0022857 9.43 SLCO1C1 SLCO1A2 SLC7A8 SLC16A5 SLC16A2 SLC16A10
7 bile acid transmembrane transporter activity GO:0015125 9.4 SLCO1C1 SLCO1A2
8 thyroid hormone binding GO:0070324 9.37 THRB THRA
9 thyroxine 5'-deiodinase activity GO:0004800 9.26 DIO3 DIO2
10 thyroxine 5-deiodinase activity GO:0033798 9.16 DIO3 DIO2
11 thyroid hormone transmembrane transporter activity GO:0015349 8.92 SLCO1C1 SLC7A8 SLC16A2 SLC16A10

Sources for Allan-Herndon-Dudley Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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