Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Mental Retardation, X-Linked (D038901)
Parent Node: Muscle Hypotonia (D009123)
Parent Node: Muscular Atrophy (D009133)
..Starting node ..Allan-Herndon-Dudley syndrome (C537047)
Child Nodes:
Sister Nodes:
..Allan-Herndon-Dudley syndrome (C537047)
..Arnold Stickler Bourne syndrome (C537431)
..Facial Dysmorphism with Multiple Malformations (C565579)
..Furukawa Takagi Nakao syndrome (C538193)
..Lethal Congenital Contractural Syndrome 3 (C566961)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Miyoshi Muscular Dystrophy 2 (C567646)
..Miyoshi Muscular Dystrophy 3 (C567645)
..Miyoshi myopathy (C537480)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Muscular Atrophy, Malignant Neurogenic (C563559)
..Nathalie syndrome (C538342)
..Primrose syndrome (C536420)
..Sarcopenia (D055948)
..Thakker Donnai syndrome (C536503)
..Wieacker syndrome (C536703)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

437

Name:

Allan-Herndon-Dudley syndrome

Definition:

Alternative IDs:

OMIM:300523

ParentIDs:

MESH:D009123|MESH:D009133|MESH:D038901

TreeNumbers:

C10.597.606.643.455/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:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms

Reference:

MedGen: C537047
MeSH: C537047
OMIM: 300523;

Genes: SLC16A2;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0003577	Congenital onset
3	HP:0000549	Abnormal conjugate eye movement
4	HP:0001251	Ataxia
5	HP:0002305	Athetosis
6	HP:0003487	Babinski sign
7	HP:0002169	Clonus
8	HP:0002188	Delayed CNS myelination
9	HP:0002307	Drooling
10	HP:0001260	Dysarthria
11	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
12	HP:0008872	Feeding difficulties in infancy
13	HP:0001371	Flexion contracture
14	HP:0003700	Generalized amyotrophy
15	HP:0001822	Hallux valgus
16	HP:0001347	Hyperreflexia
17	HP:0000821	Hypothyroidism
18	HP:0002540	Inability to walk
19	HP:0006887	Intellectual disability, progressive
20	HP:0010864	Intellectual disability, severe
21	HP:0000737	Irritability
22	HP:0002415	Leukodystrophy
23	HP:0000400	Macrotia
24	HP:0000252	Microcephaly
25	HP:0000341	Narrow forehead
26	HP:0001319	Neonatal hypotonia
27	HP:0000767	Pectus excavatum
28	HP:0001763	Pes planus
29	HP:0000395	Prominent antihelix
30	HP:0001583	Rotary nystagmus	HP:0040283
31	HP:0002650	Scoliosis
32	HP:0011344	Severe global developmental delay
33	HP:0001258	Spastic paraplegia
34	HP:0002510	Spastic tetraplegia
35	HP:0100015	Stahl ear
36	HP:0008583	Underfolded superior helices

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_006517.4(SLC16A2):c.-53A>C	6567	SLC16A2	Uncertain significance	587784385	RCV000147496;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73641420	73641420	NM_006517.4:c.-53A>C		NC_000023.10:g.73641420A>C	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.97T>C (p.Ser33Pro)	6567	SLC16A2	Benign	6647476	RCV000020650; RCV000081443;	N	MedGen:C0795889,OMIM:300523,ORPHA:59; MedGen:CN169374	X	73641569	73641569	NM_006517.4:c.97T>C	NP_006508.2:p.Ser33Pro	NC_000023.10:g.73641569T>C	-	C0795889 300523 Allan-Herndon-Dudley syndrome; CN169374 not specified
NM_006517.4(SLC16A2):c.256delC (p.Arg86Alafs)	6567	SLC16A2	Pathogenic	797045965	RCV000192994;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73641728	73641728	NM_006517.4:c.256delC	NP_006508.2:p.Arg86Alafs	NC_000023.10:g.73641728delC	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.277C>T (p.Gln93Ter)	6567	SLC16A2	Pathogenic	587784386	RCV000147498;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73641749	73641749	NM_006517.4:c.277C>T	NP_006508.2:p.Gln93Ter	NC_000023.10:g.73641749C>T	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.326G>A (p.Trp109Ter)	6567	SLC16A2	Pathogenic	794726932	RCV000173414;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73641798	73641798	NM_006517.4:c.326G>A	NP_006508.2:p.Trp109Ter	NC_000023.10:g.73641798G>A	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.353A>C (p.His118Pro)	6567	SLC16A2	Likely pathogenic	794726933	RCV000173415;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73641825	73641825	NM_006517.4:c.353A>C	NP_006508.2:p.His118Pro	NC_000023.10:g.73641825A>C	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.359C>T (p.Ser120Phe)	6567	SLC16A2	Pathogenic	113994162	RCV000020651;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73641831	73641831	NM_006517.4:c.359C>T	NP_006508.2:p.Ser120Phe	NC_000023.10:g.73641831C>T	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.374delA (p.Tyr125Serfs)	6567	SLC16A2	Pathogenic	797045966	RCV000193992;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73641846	73641846	NM_006517.4:c.374delA	NP_006508.2:p.Tyr125Serfs	NC_000023.10:g.73641846delA	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.449C>T (p.Ala150Val)	6567	SLC16A2	Pathogenic	104894936	RCV000012400; RCV000081445;	N	MedGen:C0795889,OMIM:300523,ORPHA:59; MedGen:CN221809	X	73740843	73740843	NM_006517.4:c.449C>T	NP_006508.2:p.Ala150Val	NC_000023.10:g.73740843C>A,NC_000023.10:g.73740843C>T	HGMD:CM044060,OMIM Allelic Variant:300095.0003	C0795889 300523 Allan-Herndon-Dudley syndrome; CN221809 not provided
NM_006517.4(SLC16A2):c.449C>A (p.Ala150Glu)	6567	SLC16A2	Likely pathogenic	104894936	RCV000147499;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73740843	73740843	NM_006517.4:c.449C>A	NP_006508.2:p.Ala150Glu	NC_000023.10:g.73740843C>A,NC_000023.10:g.73740843C>T	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del)	6567	SLC16A2	Likely pathogenic;Pathogenic	387906501	RCV000012407;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73740861	73740863	NM_006517.4:c.461_463delTCT	NP_006508.2:p.Phe156del	NC_000023.10:g.73740861_73740863delTCT	OMIM Allelic Variant:300095.0010	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.873A>T (p.Pro291=)	6567	SLC16A2	Benign	12849161	RCV000020648; RCV000147491; RCV000205475;	N	MedGen:C0037772; MedGen:C0795889,OMIM:300523,ORPHA:59; MedGen:CN169374	X	73744491	73744491	NM_006517.4:c.873A>T	NP_006508.2:p.Pro291=	NC_000023.10:g.73744491A>T	-	C0795889 300523 Allan-Herndon-Dudley syndrome; CN169374 not specified; C0037772 Spastic paraplegia
NM_006517.4(SLC16A2):c.916C>T (p.Gln306Ter)	6567	SLC16A2	Pathogenic	587784382	RCV000147492;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73744534	73744534	NM_006517.4:c.916C>T	NP_006508.2:p.Gln306Ter	NC_000023.10:g.73744534C>T	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.940C>T (p.Arg314Ter)	6567	SLC16A2	Pathogenic	766773277	RCV000193469;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73744558	73744558	NM_006517.4:c.940C>T	NP_006508.2:p.Arg314Ter	NC_000023.10:g.73744558C>T	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.979G>A (p.Gly327Arg)	6567	SLC16A2	Likely pathogenic	587784383	RCV000147493;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73744597	73744597	NM_006517.4:c.979G>A	NP_006508.2:p.Gly327Arg	NC_000023.10:g.73744597G>A	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.1079T>G (p.Leu360Trp)	6567	SLC16A2	Pathogenic	104894939	RCV000012405;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73745637	73745637	NM_006517.4:c.1079T>G	NP_006508.2:p.Leu360Trp	NC_000023.10:g.73745637T>G	OMIM Allelic Variant:300095.0008	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.1111C>T (p.Arg371Cys)	6567	SLC16A2	Likely pathogenic	587784384	RCV000147494;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73745669	73745669	NM_006517.4:c.1111C>T	NP_006508.2:p.Arg371Cys	NC_000023.10:g.73745669C>T	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.1121C>A (p.Ser374Ter)	6567	SLC16A2	Pathogenic	104894940	RCV000012406;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73745679	73745679	NM_006517.4:c.1121C>A	NP_006508.2:p.Ser374Ter	NC_000023.10:g.73745679C>A	OMIM Allelic Variant:300095.0009	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.1190T>C (p.Leu397Pro)	6567	SLC16A2	Pathogenic	122455132	RCV000012402;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73749067	73749067	NM_006517.4:c.1190T>C	NP_006508.2:p.Leu397Pro	NC_000023.10:g.73749067T>C	OMIM Allelic Variant:300095.0005	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.1253T>C (p.Leu418Pro)	6567	SLC16A2	Pathogenic	367543059	RCV000034937;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73749130	73749130	NM_006517.4:c.1253T>C	NP_006508.2:p.Leu418Pro	NC_000023.10:g.73749130T>C	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.1278_1280delCTT (p.Phe427del)	6567	SLC16A2	Pathogenic	113994164	RCV000020649;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73749155	73749157	NM_006517.4:c.1278_1280delCTT	NP_006508.2:p.Phe427del	NC_000023.10:g.73749155_73749157delCTT	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.1313T>C (p.Leu438Pro)	6567	SLC16A2	Pathogenic	104894931	RCV000012398;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73749190	73749190	NM_006517.4:c.1313T>C	NP_006508.2:p.Leu438Pro	NC_000023.10:g.73749190T>C	OMIM Allelic Variant:300095.0001	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.1392dupC (p.Ile465Hisfs)	6567	SLC16A2	Pathogenic	797045962	RCV000192887;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73749269	73749269	NM_006517.4:c.1392dupC	NP_006508.2:p.Ile465Hisfs	NC_000023.10:g.73749269dupC	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.1474_1481delGTAATCCT (p.Val492Leufs)	6567	SLC16A2	Pathogenic	797045963	RCV000193930;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73751242	73751249	NM_006517.4:c.1474_1481delGTAATCCT	NP_006508.2:p.Val492Leufs	NC_000023.10:g.73751242_73751249delGTAATCCT	-	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.1481T>C (p.Leu494Pro)	6567	SLC16A2	Pathogenic	104894938	RCV000012404;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73751249	73751249	NM_006517.4:c.1481T>C	NP_006508.2:p.Leu494Pro	NC_000023.10:g.73751249T>C	OMIM Allelic Variant:300095.0007	C0795889 300523 Allan-Herndon-Dudley syndrome
NM_006517.4(SLC16A2):c.1612delC (p.Pro538Glnfs)	6567	SLC16A2	Pathogenic	113994166	RCV000012408;	N	MedGen:C0795889,OMIM:300523,ORPHA:59	X	73751380	73751380	NM_006517.4:c.1612delC	NP_006508.2:p.Pro538Glnfs	NC_000023.10:g.73751380delC	OMIM Allelic Variant:300095.0011	C0795889 300523 Allan-Herndon-Dudley syndrome