MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:450
Name:Allan-Herndon-Dudley syndrome
Definition:
Alternative IDs:DO:DOID:0050631|OMIM:300523
ParentIDs:MESH:D009123|MESH:D009133|MESH:D038901
TreeNumbers:C10.597.606.360.455/C537047 |C10.597.613.575/C537047 |C10.597.613.612/C537047 |C16.320.322.500/C537047 |C16.320.400.525/C537047 |C23.300.070.500/C537047 |C23.888.592.608.575/C537047 |C23.888.592.608.612/C537047
Synonyms:AHDS |Allan-Herndon syndrome |Mct8 (Slc16a2)-Specific Thyroid Hormone Cell Transporter Deficiency |Mental retardation and muscular atrophy |Mental Retardation, X-Linked, With Hypotonia |Monocarboxylate transporter-8 deficiency |Monocarboxylate Transporter 8 De
Slim Mappings:Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms
Reference: MedGen: C537047
MeSH: C537047
OMIM: 300523;
MSeqDR LSDB:  
Genes: SLC16A2;
Phenotypes
1 HP:0001423X-linked dominant inheritance
2 HP:0003577Congenital onset
3 HP:0000549Abnormal conjugate eye movement
4 HP:0001251Ataxia
5 HP:0002305Athetosis
6 HP:0003487Babinski sign
7 HP:0002169Clonus
8 HP:0002188Delayed CNS myelination
9 HP:0002307Drooling
10 HP:0001260Dysarthria
NAMDC:  Dysarthria
11 HP:0008872Feeding difficulties in infancy
12 HP:0001371Flexion contracture
13 HP:0003700Generalized amyotrophy
14 HP:0001822Hallux valgus
15 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
16 HP:0000821Hypothyroidism
NAMDC:  Hypothyroidism
17 HP:0002540Inability to walk
18 HP:0002925Increased thyroid-stimulating hormone level
19 HP:0006887Intellectual disability, progressive
20 HP:0010864Intellectual disability, severe
21 HP:0000737Irritability
22 HP:0002415Leukodystrophy
23 HP:0000400Macrotia
24 HP:0000252Microcephaly
25 HP:0000341Narrow forehead
26 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
27 HP:0000767Pectus excavatum
28 HP:0001763Pes planus
29 HP:0000395Prominent antihelix
30 HP:0001583Rotary nystagmusHP:0040283
31 HP:0002650Scoliosis
32 HP:0011344Severe global developmental delay
33 HP:0001258Spastic paraplegia
34 HP:0002510Spastic tetraplegia
35 HP:0100015Stahl ear
36 HP:0008583Underfolded superior helices
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
GRCh37/hg19 Xq13.2(chrX:73160043-73703398)-1FTX;JPX;SLC16A2;ZCCHC13Pathogenic-1RCV001726539; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7316004373703398nana-1-
NM_006517.5(SLC16A2):c.-53A>C6567SLC16A2Uncertain significancers587784385RCV000147496; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7364142073641420ACNC_000023.10:g.73641420A>CClinGen:CA272492C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.-6_430+5del6567SLC16A2Pathogenic-1RCV001391665; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7364146773641907CGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCC73641466-
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys)6567SLC16A2Uncertain significancers933036653RCV000790966; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7364149773641497GAX:g.73641497G>A-
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)6567SLC16A2Benignrs6647476RCV000020650|RCV000081443|RCV000715360|RCV000829237|RCV001081875|RCV001847615; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59|MedGen:CN169374|MedGen:C2711754|MedGen:CN517202|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MX7364156973641569TCNC_000023.10:g.73641569T>CClinGen:CA148522C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.256del (p.Arg86fs)6567SLC16A2Pathogenicrs797045965RCV000192994; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7364172673641726ACANC_000023.10:g.73641728delClinGen:CA277060C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter)6567SLC16A2Pathogenicrs587784386RCV000147498; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7364174973641749CTNC_000023.10:g.73641749C>TClinGen:CA272493C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg)6567SLC16A2Uncertain significancers1928309226RCV001332780; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7364180673641806GC73641806-
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe)6567SLC16A2Pathogenicrs113994162RCV000020651; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7364183173641831CTX:g.73641831C>TClinGen:CA342116,UniProtKB:P36021#VAR_059054C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs)6567SLC16A2Pathogenicrs797045966RCV000193992; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7364184673641846TATNC_000023.10:g.73641846delClinGen:CA277240C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs)6567SLC16A2Pathogenic/Likely pathogenicrs1602099961RCV000856825|RCV001869313; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772X7364187273641873GGAX:g.73641872_73641873insA-
NM_006517.5(SLC16A2):c.431-2A>G6567SLC16A2Likely pathogenic-1RCV001849898; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374082373740823AG73740823-
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter)6567SLC16A2Pathogenicrs1555989364RCV000595183|RCV000984914; NMedGen:CN517202|MONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374082873740828GAX:g.73740828G>AClinGen:CA413656509C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.435G>A (p.Trp145Ter)6567SLC16A2Likely pathogenicrs1930396705RCV001262483; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374082973740829GAX:g.73740829G>A-
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)6567SLC16A2Pathogenicrs1602140936RCV000824884; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374083373740833GAX:g.73740833G>A-
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr)6567SLC16A2Uncertain significancers373279555RCV001004869; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374084273740842GAX:g.73740842G>A-
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val)6567SLC16A2Pathogenicrs104894936RCV000012400|RCV000790835; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59|MedGen:CN517202X7374084373740843CTNC_000023.10:g.73740843C>TUniProtKB:P36021#VAR_022348,OMIM:300095.0003,ClinGen:CA222962C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu)6567SLC16A2Likely pathogenicrs104894936RCV000147499; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374084373740843CANC_000023.10:g.73740843C>AClinGen:CA272495C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)6567SLC16A2Pathogenic/Likely pathogenicrs387906501RCV000012407|RCV001091604; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59|MedGen:CN517202X7374085573740857ATCTANC_000023.10:g.73740855TCT[2]ClinGen:CA255950,OMIM:300095.0010C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.532del (p.Ala178fs)6567SLC16A2Pathogenicrs1555989375RCV000504177; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374092273740922CGCNC_000023.10:g.73740926delClinGen:CA645372687C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)6567SLC16A2Conflicting interpretations of pathogenicityrs727504155RCV000153954|RCV001375983; NMedGen:CN517202|MONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374420873744208GAX:g.73744208G>AUniProtKB:P36021#VAR_074574,ClinGen:CA234941CN169374 not specified;
NM_006517.5(SLC16A2):c.607del (p.Ile203fs)6567SLC16A2Likely pathogenic-1RCV001775234; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374422573744225GAG73744224-
NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp)6567SLC16A2Uncertain significancers1930457917RCV001170023; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374428573744285TGX:g.73744285T>G-
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter)6567SLC16A2Likely pathogenic-1RCV001553548; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374445873744458CA73744458-
NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs)6567SLC16A2Pathogenic-1RCV001794858; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374446973744470TTGCCCAGCTCCC73744469-
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)6567SLC16A2Benign/Likely benignrs12849161RCV000020648|RCV000147491|RCV000205475|RCV000717648|RCV001668129|RCV001847614; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59|MedGen:CN169374|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772|MedGen:C2711754|MX7374449173744491ATNC_000023.10:g.73744491A>TClinGen:CA173460C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter)6567SLC16A2Pathogenicrs587784382RCV000147492; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374453473744534CTNC_000023.10:g.73744534C>TClinGen:CA272486C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter)6567SLC16A2Pathogenicrs766773277RCV000193469|RCV000760473|RCV001853109; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59|MedGen:CN517202|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772X7374455873744558CTNC_000023.10:g.73744558C>TClinGen:CA277146
NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter)6567SLC16A2Pathogenicrs1930463806RCV001333549; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374459073744590GA73744590-
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)6567SLC16A2Pathogenic/Likely pathogenicrs587784383RCV000147493|RCV000415270|RCV001383614|RCV001267932; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59|Human Phenotype Ontology:HP:0002928,MedGen:C1839888|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:00072X7374459773744597GANC_000023.10:g.73744597G>AClinGen:CA272488C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1026+1G>T6567SLC16A2Pathogenicrs1555989729RCV000501675; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374464573744645GTNC_000023.10:g.73744645G>TClinGen:CA413657808C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter)6567SLC16A2Pathogenicrs1380635081RCV001333548; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374562873745628GA73745628-
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp)6567SLC16A2Pathogenicrs104894939RCV000012405; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374563773745637TGX:g.73745637T>GClinGen:CA341127,UniProtKB:P36021#VAR_059057,OMIM:300095.0008C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)6567SLC16A2Pathogenic/Likely pathogenicrs587784384RCV000147494|RCV000224827|RCV000624288|RCV001226584|RCV001847780; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGX7374566973745669CTX:g.73745669C>TClinGen:CA272490,UniProtKB:P36021#VAR_074577C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter)6567SLC16A2Pathogenicrs104894940RCV000012406; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374567973745679CAX:g.73745679C>AClinGen:CA255948,OMIM:300095.0009C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1170+4_1170+7del6567SLC16A2Pathogenicrs1555989846RCV000626242; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374572973745732GGTGAGX:g.73745729_73745732delClinGen:CA658799803C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)6567SLC16A2Pathogenicrs122455132RCV000012402|RCV000224792; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human PhenotyX7374906773749067TCX:g.73749067T>CClinGen:CA255947,UniProtKB:P36021#VAR_022349,OMIM:300095.0005C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro)6567SLC16A2Pathogenicrs367543059RCV000034937; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374913073749130TCX:g.73749130T>CClinGen:CA344565C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val)6567SLC16A2Pathogenicrs1602143383RCV000990870; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374913973749139GTX:g.73749139G>T-
NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del)6567SLC16A2Pathogenicrs113994164RCV000020649; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374915273749154GCTTGX:g.73749152_73749154delClinGen:CA342113C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro)6567SLC16A2Pathogenicrs104894931RCV000012398; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374919073749190TCX:g.73749190T>CClinGen:CA255946,UniProtKB:P36021#VAR_022350,OMIM:300095.0001C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs)6567SLC16A2Pathogenicrs1602143432RCV000990871; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374924973749249GCGX:g.73749249_73749249del-
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs)6567SLC16A2Pathogenicrs797045962RCV000192887; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374926373749264GGCNC_000023.10:g.73749269dupClinGen:CA277043C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser)6567SLC16A2Likely pathogenicrs1363308293RCV000677736; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374926773749267CTX:g.73749267C>T-C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1399+43T>G6567SLC16A2Benignrs5937843RCV000147495|RCV001651003|RCV001807093; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7374931973749319TGNC_000023.10:g.73749319T>GClinGen:CA173462CN169374 not specified;
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs)6567SLC16A2Pathogenicrs797045963RCV000193930; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7375124073751247GCTGTAATCGNC_000023.10:g.73751242_73751249delClinGen:CA277225C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro)6567SLC16A2Pathogenicrs104894938RCV000012404; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7375124973751249TCX:g.73751249T>CUniProtKB:P36021#VAR_059060,OMIM:300095.0007,ClinGen:CA341126C0795889 300523 Allan-Herndon-Dudley syndrome;
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs)6567SLC16A2Pathogenicrs113994166RCV000012408; NMONDO:MONDO:0010354,MedGen:C0795889,OMIM:300523, Orphanet:59X7375138073751380ACAX:g.73751380_73751380delClinGen:CA341128,OMIM:300095.0011C0795889 300523 Allan-Herndon-Dudley syndrome;
MSeqDR Portal