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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

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Disease Browser
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Mental Retardation, X-Linked (D038901)
..Starting node ..Creatine deficiency, X-linked (C535598)
Child Nodes:
Sister Nodes:
..Abidi X-linked mental retardation syndrome (C535556)
..Adrenoleukodystrophy (D000326) 4
..Aldred syndrome (C537046)
..Allan-Herndon-Dudley syndrome (C537047)
..Arena syndrome (C537428)
..Armfield X-Linked Mental Retardation Syndrome (C564551)
..Atkin syndrome (C538195)
..ATR-X syndrome (C538258)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Brooks-Wisniewski-Brown Syndrome (C563154)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..CK SYNDROME (OMIM:300831)
..Clark-Baraitser syndrome (C536208)
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Coffin-Lowry Syndrome (D038921)
..Cowchock syndrome (C536450)
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..Fragile X Syndrome (D005600) 3
..Glycogen Storage Disease Type IIb (D052120)
..Lesch-Nyhan Syndrome (D007926) 1
..Lubs X-linked mental retardation syndrome (C537723)
..Lujan Fryns syndrome (C537724)
..MEHMO syndrome (C537451)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..Mental retardation X-linked syndromic 7 (C537449)
..Mental retardation X-linked, South African type (C537450)
..Mental Retardation, X-Linked 1 (C567906)
..Mental retardation, X-linked 14 (C537454)
..Mental Retardation, X-Linked 16 (C563139)
..Mental Retardation, X-Linked 17 (C563140)
..Mental Retardation, X-Linked 19 (C563141)
..Mental Retardation, X-Linked 2 (C563135)
..Mental Retardation, X-Linked 20 (C563142)
..MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
..Mental Retardation, X-Linked 23 (C563144)
..Mental Retardation, X-Linked 3 (C563136)
..Mental Retardation, X-Linked 30 (C563146)
..Mental Retardation, X-Linked 31 (C563147)
..Mental Retardation, X-Linked 34 (C563148)
..Mental Retardation, X-Linked 42 (C564524)
..Mental Retardation, X-Linked 45 (C564503)
..Mental Retardation, X-Linked 46 (C564513)
..Mental Retardation, X-Linked 47 (C563151)
..MENTAL RETARDATION, X-LINKED 49 (OMIM:300114)
..Mental Retardation, X-Linked 50 (C564713)
..Mental Retardation, X-Linked 52 (C564502)
..Mental Retardation, X-Linked 53 (C564533)
..Mental Retardation, X-Linked 58 (C564566)
..Mental Retardation, X-Linked 59 (C564470)
..Mental Retardation, X-Linked 63 (C564522)
..Mental Retardation, X-Linked 72 (C564547)
..Mental Retardation, X-Linked 73 (C564528)
..Mental Retardation, X-Linked 77 (C564511)
..Mental Retardation, X-Linked 78 (C564489)
..Mental Retardation, X-Linked 79 (C566876)
..Mental Retardation, X-Linked 81 (C564515)
..Mental Retardation, X-Linked 82 (C564496)
..Mental Retardation, X-Linked 84 (C564501)
..Mental Retardation, X-Linked 89 (C564036)
..Mental Retardation, X-Linked 9 (C563137)
..Mental Retardation, X-Linked 91 (C564482)
..Mental Retardation, X-Linked 92 (C564483)
..Mental Retardation, X-Linked 93 (C567066)
..Mental Retardation, X-Linked 94 (C567479)
..Mental Retardation, X-Linked 95 (C567470)
..MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
..Mental Retardation, X-Linked Nonsyndromic (C564490)
..Mental Retardation, X-Linked, Syndromic 10 (C564560)
..Mental Retardation, X-Linked, Syndromic 13 (C566875)
..Mental Retardation, X-Linked, Syndromic 14 (C567063)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
..Mental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
..Mental Retardation, X-Linked, Syp-Related (C567584)
..Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
..Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
..Mental Retardation, X-Linked, with Epilepsy (C564516)
..Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
..Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
..Mental Retardation, X-Linked, with Short Stature (C564527)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Mental Retardation, X-Linked, With Spasticity (C566877)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Microphthalmia, Syndromic 4 (C564457)
..Miles-Carpenter x-linked mental retardation syndrome (C537472)
..Mucopolysaccharidosis II (D016532)
..Opitz-Kaveggia syndrome (C537923)
..Orofaciodigital syndrome, Shashi type (C537135)
..Partington X-linked mental retardation syndrome (C536300)
..Plagiocephaly and X-linked mental retardation (C537512)
..Ppm-X Syndrome (C580387)
..Prieto X-linked mental retardation syndrome (C535274)
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Renpenning syndrome 1 (C537761)
..Rett Syndrome (D015518) 5
..Roifman syndrome (C535866)
..Schimke X-linked mental retardation syndrome (C536630)
..Siderius X-linked mental retardation syndrome (C537333)
..Snyder Robinson syndrome (C536678)
..Stocco dos Santos syndrome (C537495)
..Tranebjaerg Svejgaard syndrome (C536978)
..Wilson-Turner X-linked mental retardation syndrome (C536708)
..Wittwer syndrome (C536737)
..X-linked mental retardation Gustavson type (C536759)
..X-linked mental retardation type Wittwer (C536760)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2849

Name:

Creatine deficiency, X-linked

Definition:

Alternative IDs:

OMIM:300352

ParentIDs:

MESH:D020739|MESH:D038901

TreeNumbers:

C10.228.140.163.100/C535598 |C10.597.606.643.455/C535598 |C16.320.322.500/C535598 |C16.320.400.525/C535598 |C16.320.565.189/C535598 |C18.452.132.100/C535598 |C18.452.648.189/C535598

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C535598
MeSH: C535598
OMIM: 300352;

Genes: SLC6A8;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0002251	Aganglionic megacolon
5	HP:0000718	Aggressive behavior
6	HP:0007018	Attention deficit hyperactivity disorder
7	HP:0000337	Broad forehead
8	HP:0002019	Constipation
9	HP:0012448	Delayed myelination
10	HP:0000750	Delayed speech and language development
11	HP:0001332	Dystonia
12	HP:0000577	Exotropia
13	HP:0001508	Failure to thrive
14	HP:0008872	Feeding difficulties in infancy
15	HP:0001288	Gait disturbance
16	HP:0001290	Generalized hypotonia
17	HP:0001263	Global developmental delay
18	HP:0000540	Hypermetropia
19	HP:0002079	Hypoplasia of the corpus callosum
20	HP:0002595	Ileus
21	HP:0000735	Impaired social interactions
22	HP:0001249	Intellectual disability
23	HP:0001382	Joint hypermobility
24	HP:0000276	Long face
25	HP:0000272	Malar flattening
26	HP:0000303	Mandibular prognathia
27	HP:0000252	Microcephaly
28	HP:0011800	Midface retrusion
29	HP:0001270	Motor delay
30	HP:0002058	Myopathic facies
31	HP:0000275	Narrow face
32	HP:0001319	Neonatal hypotonia
33	HP:0001761	Pes cavus
34	HP:0007057	Poor hand-eye coordination
35	HP:0000508	Ptosis
36	HP:0001250	Seizure
37	HP:0004322	Short stature
38	HP:0001257	Spasticity
39	HP:0000733	Stereotypy
40	HP:0000098	Tall stature
41	HP:0008583	Underfolded superior helices
42	HP:0002013	Vomiting

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_005629.3(SLC6A8):c.259G>A (p.Gly87Arg)	6535	SLC6A8	Pathogenic	122453115	RCV000012466;	N	MedGen:C1845862,OMIM:300352,ORPHA:52503	X	152954288	152954288	NM_005629.3:c.259G>A	NP_005620.1:p.Gly87Arg	NC_000023.10:g.152954288G>A	OMIM Allelic Variant:300036.0005	C1845862 300352 Creatine deficiency, X-linked
NM_005629.3(SLC6A8):c.321_323delCTT (p.Phe107del)	6535	SLC6A8	Pathogenic	80338739	RCV000020635;	N	MedGen:C1845862,OMIM:300352,ORPHA:52503	X	152955888	152955890	NM_005629.3:c.321_323delCTT	NP_005620.1:p.Phe107del	NC_000023.10:g.152955888_152955890delCTT	-	C1845862 300352 Creatine deficiency, X-linked
NM_005629.3(SLC6A8):c.395G>T (p.Gly132Val)	6535	SLC6A8	Pathogenic	122453117	RCV000012469;	N	MedGen:C1845862,OMIM:300352,ORPHA:52503	X	152956759	152956759	NM_005629.3:c.395G>T	NP_005620.1:p.Gly132Val	NC_000023.10:g.152956759G>T	OMIM Allelic Variant:300036.0008	C1845862 300352 Creatine deficiency, X-linked
NM_005629.3(SLC6A8):c.1011C>G (p.Cys337Trp)	6535	SLC6A8	Pathogenic	122453116	RCV000012468;	N	MedGen:C1845862,OMIM:300352,ORPHA:52503	X	152958816	152958816	NM_005629.3:c.1011C>G	NP_005620.1:p.Cys337Trp	NC_000023.10:g.152958816C>G	OMIM Allelic Variant:300036.0007	C1845862 300352 Creatine deficiency, X-linked
NM_005629.3(SLC6A8):c.1141G>C (p.Gly381Arg)	6535	SLC6A8	Pathogenic	122453114	RCV000012463;	N	MedGen:C1845862,OMIM:300352,ORPHA:52503	X	152959041	152959041	NM_005629.3:c.1141G>C	NP_005620.1:p.Gly381Arg	NC_000023.10:g.152959041G>C	OMIM Allelic Variant:300036.0002	C1845862 300352 Creatine deficiency, X-linked
NM_005629.3(SLC6A8):c.1222_1224delTTC (p.Phe408del)	6535	SLC6A8	Pathogenic	80338740	RCV000012464;	N	MedGen:C1845862,OMIM:300352,ORPHA:52503	X	152959440	152959442	NM_005629.3:c.1222_1224delTTC	NP_005620.1:p.Phe408del	NC_000023.10:g.152959440_152959442delTTC	OMIM Allelic Variant:300036.0003	C1845862 300352 Creatine deficiency, X-linked
NM_005629.3(SLC6A8):c.1473C>G (p.Cys491Trp)	6535	SLC6A8	Pathogenic	122453118	RCV000012470;	N	MedGen:C1845862,OMIM:300352,ORPHA:52503	X	152959879	152959879	NM_005629.3:c.1473C>G	NP_005620.1:p.Cys491Trp	NC_000023.10:g.152959879C>G	OMIM Allelic Variant:300036.0009	C1845862 300352 Creatine deficiency, X-linked
NM_005629.3(SLC6A8):c.1540C>T (p.Arg514Ter)	6535	SLC6A8	Pathogenic	122453113	RCV000012462;	N	MedGen:C1845862,OMIM:300352,ORPHA:52503	X	152960032	152960032	NM_005629.3:c.1540C>T	NP_005620.1:p.Arg514Ter	NC_000023.10:g.152960032C>T	OMIM Allelic Variant:300036.0001	C1845862 300352 Creatine deficiency, X-linked
NM_005629.3(SLC6A8):c.1631C>T (p.Pro544Leu)	6535	SLC6A8	Pathogenic	397515558	RCV000055918;	N	MedGen:C1845862,OMIM:300352,ORPHA:52503	X	152960208	152960208	NM_005629.3:c.1631C>T	NP_005620.1:p.Pro544Leu	NC_000023.10:g.152960208C>T	-	C1845862 300352 Creatine deficiency, X-linked
NM_005629.3(SLC6A8):c.1661C>T (p.Pro554Leu)	6535	SLC6A8	Pathogenic	397515559	RCV000055919;	N	MedGen:C1845862,OMIM:300352,ORPHA:52503	X	152960238	152960238	NM_005629.3:c.1661C>T	NP_005620.1:p.Pro554Leu	NC_000023.10:g.152960238C>T	-	C1845862 300352 Creatine deficiency, X-linked