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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: Mental Retardation, X-Linked (D038901)
..Starting node ..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
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:

7063

Name:

Mental Retardation, X-Linked, Syndromic, Jarid1c-Related

Definition:

Alternative IDs:

OMIM:300534

ParentIDs:

MESH:D038901

TreeNumbers:

C10.597.606.643.455/C564494 |C16.320.322.500/C564494 |C16.320.400.525/C564494

Synonyms:

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE |MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED |MRXSCJ |MRXSJ

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C564494
MeSH: C564494
OMIM: 300534;

Genes: KDM5C;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0000718	Aggressive behavior	HP:0040284
3	HP:0003487	Babinski sign
4	HP:0001156	Brachydactyly
5	HP:0000028	Cryptorchidism
6	HP:0008734	Decreased testicular size	HP:0040284
7	HP:0000490	Deeply set eye
8	HP:0000699	Diastema
9	HP:0008944	Distal lower limb amyotrophy
10	HP:0000297	Facial hypotonia
11	HP:0000221	Furrowed tongue
12	HP:0000218	High palate	HP:0040284
13	HP:0002705	High, narrow palate
14	HP:0000540	Hypermetropia
15	HP:0000327	Hypoplasia of the maxilla
16	HP:0006887	Intellectual disability, progressive
17	HP:0010864	Intellectual disability, severe
18	HP:0001176	Large hands
19	HP:0000744	Low frustration tolerance
20	HP:0002395	Lower limb hyperreflexia
21	HP:0006895	Lower limb hypertonia
22	HP:0000256	Macrocephaly
23	HP:0000400	Macrotia
24	HP:0000303	Mandibular prognathia
25	HP:0000252	Microcephaly	HP:0040284
26	HP:0000347	Micrognathia
27	HP:0000054	Micropenis
28	HP:0000545	Myopia
29	HP:0002229	obsolete Alopecia areata
30	HP:0000767	Pectus excavatum
31	HP:0007020	Progressive spastic paraplegia
32	HP:0000711	Restlessness
33	HP:0001250	Seizure	HP:0040284
34	HP:0009882	Short distal phalanx of finger
35	HP:0001773	Short foot
36	HP:0004322	Short stature	HP:0040284
37	HP:0002362	Shuffling gait
38	HP:0000350	Small forehead
39	HP:0000319	Smooth philtrum
40	HP:0000486	Strabismus	HP:0040284
41	HP:0008124	Talipes calcaneovarus
42	HP:0001762	Talipes equinovarus
43	HP:0000219	Thin upper lip vermilion
44	HP:0000582	Upslanted palpebral fissure

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_004187.3(KDM5C):c.3126_3128delTGAinsCAGG (p.Asp1043Argfs)	8242	KDM5C	Pathogenic	797044682	RCV000176207;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53224585	53224587	NM_004187.3:c.3126_3128delTGAinsCAGG	NP_004178.2:p.Asp1043Argfs	NC_000023.10:g.53224585_53224587delTCAinsCCTG	-	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked
NM_004187.3(KDM5C):c.3118C>T (p.Gln1040Ter)	8242	KDM5C	Pathogenic	782246658	RCV000193813;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53225100	53225100	NM_004187.3:c.3118C>T	NP_004178.2:p.Gln1040Ter	NC_000023.10:g.53225100G>A	-	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked
NM_004187.3(KDM5C):c.2296C>T (p.Arg766Trp)	8242	KDM5C	Pathogenic	199422238	RCV000010431;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53228018	53228018	NM_004187.3:c.2296C>T	NP_004178.2:p.Arg766Trp	NC_000023.10:g.53228018G>A	OMIM Allelic Variant:314690.0006	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked
NM_004187.3(KDM5C):c.2191C>T (p.Leu731Phe)	8242	KDM5C	Pathogenic	199422234	RCV000010426;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53228211	53228211	NM_004187.3:c.2191C>T	NP_004178.2:p.Leu731Phe	NC_000023.10:g.53228211G>A	OMIM Allelic Variant:314690.0001	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked
NM_004187.3(KDM5C):c.2172C>A (p.Cys724Ter)	8242	KDM5C	Pathogenic	281860639	RCV000022890;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53228230	53228230	NM_004187.3:c.2172C>A	NP_004178.2:p.Cys724Ter	NC_000023.10:g.53228230G>T	OMIM Allelic Variant:314690.0008	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked
NM_004187.3(KDM5C):c.2080C>T (p.Arg694Ter)	8242	KDM5C	Pathogenic	199422236	RCV000010429;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53228322	53228322	NM_004187.3:c.2080C>T	NP_004178.2:p.Arg694Ter	NC_000023.10:g.53228322G>A	OMIM Allelic Variant:314690.0004	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked
NM_004187.3(KDM5C):c.1660C>A (p.Pro554Thr)	8242	KDM5C	Pathogenic	387906729	RCV000022891;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53239682	53239682	NM_004187.3:c.1660C>A	NP_004178.2:p.Pro554Thr	NC_000023.10:g.53239682G>T	OMIM Allelic Variant:314690.0009	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked
NM_004187.3(KDM5C):c.1613C>T (p.Pro538Leu)	8242	KDM5C	Likely pathogenic	587780372	RCV000117381;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53239729	53239729	NM_004187.3:c.1613C>T	NP_004178.2:p.Pro538Leu	NC_000023.10:g.53239729G>A	-	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked
NM_004187.3(KDM5C):c.1353C>G (p.Ser451Arg)	8242	KDM5C	Pathogenic	199422237	RCV000010430;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53240727	53240727	NM_004187.3:c.1353C>G	NP_004178.2:p.Ser451Arg	NC_000023.10:g.53240727G>C	OMIM Allelic Variant:314690.0005	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked
NM_004187.3(KDM5C):c.1162G>C (p.Ala388Pro)	8242	KDM5C	Pathogenic	199422235	RCV000010428;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53241049	53241049	NM_004187.3:c.1162G>C	NP_004178.2:p.Ala388Pro	NC_000023.10:g.53241049C>G	OMIM Allelic Variant:314690.0003	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked
NM_004187.3(KDM5C):c.486T>A (p.Tyr162Ter)	8242	KDM5C	Pathogenic	797044731	RCV000178206;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53247014	53247014	NM_004187.3:c.486T>A	NP_004178.2:p.Tyr162Ter	NC_000023.10:g.53247014A>T	-	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked
NM_004187.3(KDM5C):c.351+1G>T	8242	KDM5C	Pathogenic	797044706	RCV000177191;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53247457	53247457	NM_004187.3:c.351+1G>T		NC_000023.10:g.53247457C>A	-	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked
NM_004187.3(KDM5C):c.229G>A (p.Ala77Thr)	8242	KDM5C	Pathogenic	199422239	RCV000010432;	N	MedGen:C1845243,OMIM:300534,ORPHA:85279	X	53247580	53247580	NM_004187.3:c.229G>A	NP_004178.2:p.Ala77Thr	NC_000023.10:g.53247580C>T	OMIM Allelic Variant:314690.0007	C1845243 300534 Mental retardation, syndromic, Claes-Jensen type, X-linked