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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

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

Disease Browser
Parent Node: Ataxia (D001259)
Parent Node: Epilepsy (D004827)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Intellectual Disability (D008607)
Parent Node: Microcephaly (D008831)
Parent Node: Ocular Motility Disorders (D015835)
..Starting node ..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
Child Nodes:
Sister Nodes:
..Athabaskan brainstem dysgenesis (C535397)
..Diffuse Lewy Body Disease with Gaze Palsy (C565077)
..Duane Retraction Syndrome (D004370) 2
..Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
..Joubert syndrome 3 (C536295)
..Joubert syndrome 5 (C537688)
..Joubert syndrome 6 (C537689)
..Joubert Syndrome 7 (C566916)
..Levator-Medial Rectus Synkinesis (C563625)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Miller Fisher Syndrome (D019846)
..Nystagmus, Pathologic (D009759) 25
..Oculomotor Nerve Diseases (D015840) 4
..Ophthalmoplegia (D009886) 41
..Ophthalmoplegia, Chronic Progressive External (D017246) 7
..Opsoclonus-Myoclonus Syndrome (D053578) 1
..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..Setting-Sun Phenomenon, Familial Benign (C563470)
..Strabismus (D013285) 13
..Tolosa-Hunt Syndrome (D020333) 1
..Tukel syndrome (C536925)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7062

Name:

Mental Retardation, X-Linked, Syndromic, Christianson Type

Definition:

Alternative IDs:

OMIM:300243

ParentIDs:

TreeNumbers:

C05.660.207.620/C567484 |C10.228.140.490/C567484 |C10.228.758/C567484 |C10.292.562/C567484 |C10.500.507.400.500/C567484 |C10.597.350.090/C567484 |C10.597.606.643/C567484 |C11.590/C567484 |C16.131.621.207.620/C567484 |C16.131.666.507.400.500/C567484 |C16.320.322/C5

Synonyms:

Angelman-Like Syndrome, X-Linked |Christianson Syndrome |Intellectual Deficit, X-Linked, South African Type |Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome |MRXSCH

Slim Mappings:

Reference:

MedGen: C567484
MeSH: C567484
OMIM: 300243;

Genes: SLC9A6;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0001760	Abnormal foot morphology
3	HP:0001344	Absent speech
4	HP:0001181	Adducted thumb
5	HP:0002607	Bowel incontinence
6	HP:0001272	Cerebellar atrophy
7	HP:0004325	Decreased body weight
8	HP:0002307	Drooling
9	HP:0002015	Dysphagia
10	HP:0001371	Flexion contracture
11	HP:0001290	Generalized hypotonia
12	HP:0001263	Global developmental delay
13	HP:0040082	Happy demeanor
14	HP:0002487	Hyperkinetic movements
15	HP:0006887	Intellectual disability, progressive
16	HP:0010864	Intellectual disability, severe
17	HP:0000276	Long face
18	HP:0003189	Long nose
19	HP:0006794	Loss of ability to walk in first decade
20	HP:0000400	Macrotia
21	HP:0000303	Mandibular prognathia
22	HP:0000252	Microcephaly
23	HP:0002300	Mutism
24	HP:0000774	Narrow chest
25	HP:0000275	Narrow face
26	HP:0002529	Neuronal loss in central nervous system
27	HP:0000194	Open mouth
28	HP:0000602	Ophthalmoplegia
29	HP:0007207	Photosensitive tonic-clonic seizure
30	HP:0003202	Skeletal muscle atrophy
31	HP:0002360	Sleep disturbance
32	HP:0001238	Slender finger
33	HP:0000486	Strabismus
34	HP:0000574	Thick eyebrow
35	HP:0002078	Truncal ataxia
36	HP:0000020	Urinary incontinence

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_001042537.1(SLC9A6):c.183delG (p.Lys61Asnfs)	10479	SLC9A6	Pathogenic	587784398	RCV000147540;	N	MedGen:C2678194,OMIM:300243	X	135067844	135067844	NM_001042537.1:c.183delG	NP_001036002.1:p.Lys61Asnfs	NC_000023.10:g.135067844delG	-	C2678194 300243 Christianson syndrome
NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser)	10479	SLC9A6	Uncertain significance	587784400	RCV000147543;	N	MedGen:C2678194,OMIM:300243	X	135076986	135076986	NM_001042537.1:c.367C>T	NP_001036002.1:p.Pro123Ser	NC_000023.10:g.135076986C>T	-	C2678194 300243 Christianson syndrome
NM_001042537.1(SLC9A6):c.412A>G (p.Ser138Gly)	10479	SLC9A6	Uncertain significance	587784401	RCV000147544;	N	MedGen:C2678194,OMIM:300243	X	135077031	135077031	NM_001042537.1:c.412A>G	NP_001036002.1:p.Ser138Gly	NC_000023.10:g.135077031A>G	-	C2678194 300243 Christianson syndrome
NM_001042537.1(SLC9A6):c.603+3_603+4delAAinsCC	10479	SLC9A6	Pathogenic	730882187	RCV000012233;	N	MedGen:C2678194,OMIM:300243	X	135080347	135080348	NM_001042537.1:c.603+3_603+4delAAinsCC		NC_000023.10:g.135080347_135080348delAAinsCC	OMIM Allelic Variant:300231.0003	C2678194 300243 Christianson syndrome
NM_001042537.1(SLC9A6):c.604-1G>A	10479	SLC9A6	Pathogenic	797044508	RCV000153971;	N	MedGen:C2678194,OMIM:300243	X	135080640	135080640	NM_001042537.1:c.604-1G>A		NC_000023.10:g.135080640G>A	-	C2678194 300243 Christianson syndrome
NM_001042537.1(SLC9A6):c.608_609delAT (p.His203Leufs)	10479	SLC9A6	Pathogenic	730882188	RCV000012234;	N	MedGen:C2678194,OMIM:300243	X	135080645	135080646	NM_001042537.1:c.608_609delAT	NP_001036002.1:p.His203Leufs	NC_000023.10:g.135080645_135080646delAT	OMIM Allelic Variant:300231.0004	C2678194 300243 Christianson syndrome
NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val)	10479	SLC9A6	Uncertain significance	587784402	RCV000147545;	N	MedGen:C2678194,OMIM:300243	X	135081019	135081019	NM_001042537.1:c.685A>G	NP_001036002.1:p.Ile229Val	NC_000023.10:g.135081019A>G	-	C2678194 300243 Christianson syndrome
NM_001042537.1(SLC9A6):c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del)	10479	SLC9A6	Pathogenic	398122849	RCV000022841;	N	MedGen:C2678194,OMIM:300243	X	135092713	135092721	NM_001042537.1:c.1012_1020delGGTGCTGCT	NP_001036002.1:p.Gly338_Ala340del	NC_000023.10:g.135092713_135092721delGGTGCTGCT	OMIM Allelic Variant:300231.0005	C2678194 300243 Christianson syndrome
NM_001042537.1(SLC9A6):c.1498C>T (p.Arg500Ter)	10479	SLC9A6	Pathogenic	122461162	RCV000012232;	N	MedGen:C2678194,OMIM:300243	X	135106524	135106524	NM_001042537.1:c.1498C>T	NP_001036002.1:p.Arg500Ter	NC_000023.10:g.135106524C>T	OMIM Allelic Variant:300231.0002	C2678194 300243 Christianson syndrome
NM_001042537.1(SLC9A6):c.1639G>T (p.Glu547Ter)	10479	SLC9A6	Pathogenic	398123003	RCV000077787;	N	MedGen:C2678194,OMIM:300243	X	135112313	135112313	NM_001042537.1:c.1639G>T	NP_001036002.1:p.Glu547Ter	NC_000023.10:g.135112313G>T	OMIM Allelic Variant:300231.0006	C2678194 300243 Christianson syndrome
NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter)	10479	SLC9A6	Pathogenic	587784399	RCV000147541;	N	MedGen:C2678194,OMIM:300243	X	135126855	135126855	NM_001042537.1:c.2078T>G	NP_001036002.1:p.Leu693Ter	NC_000023.10:g.135126855T>G	-	C2678194 300243 Christianson syndrome