MRXSCJ
MCID: MNT228
MIFTS: 31

Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type (MRXSCJ)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type:

Name: Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 58 12 76 13 41 74
Mrxscj 58 12 76
Mrxsj 58 12 76
Syndromic X-Linked Intellectual Disability Due to Jarid1c Mutation 12 60
Syndromic X-Linked Intellectual Disability Claes-Jensen Type 12 15
Mental Retardation, Syndromic, Claes-Jensen Type, X-Linked 30 6
Mental Retardation, X-Linked, Syndromic, Jarid1c-Related; Mrxsj 58
Mental Retardation, X-Linked, Syndromic, Jarid1c-Related 58
Mental Retardation, Syndromic, X-Linked Jarid1c-Related 76
Syndromic X-Linked Mental Retardation Jarid1c-Related 12

Characteristics:

Orphanet epidemiological data:

60
syndromic x-linked intellectual disability due to jarid1c mutation
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
features in addition to mental retardation are variable
carrier females may show mild mental retardation or learning disabilities


HPO:

33
mental retardation, x-linked, syndromic, claes-jensen type:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

UniProtKB/Swiss-Prot : 76 Mental retardation, X-linked, syndromic, Claes-Jensen type: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSCJ patients manifest mental retardation associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type, is also known as mrxscj, and has symptoms including seizures and restlessness. An important gene associated with Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type is KDM5C (Lysine Demethylase 5C). Affiliated tissues include eye, tongue and testes, and related phenotypes are delayed speech and language development and intellectual disability, severe

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems that has material basis in mutation in the KDM5C gene on chromosome Xp11.

Description from OMIM: 300534

Related Diseases for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type:

60 33 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
2 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
3 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
4 hypoplasia of the maxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0000327
5 alopecia areata 60 33 hallmark (90%) Very frequent (99-80%) HP:0002229
6 seizures 60 33 very rare (1%) Frequent (79-30%) HP:0001250
7 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
8 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
9 short stature 60 33 very rare (1%) Frequent (79-30%) HP:0004322
10 aggressive behavior 60 33 very rare (1%) Frequent (79-30%) HP:0000718
11 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
12 clinodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0030084
13 high palate 60 33 very rare (1%) Occasional (29-5%) HP:0000218
14 microcephaly 60 33 very rare (1%) Occasional (29-5%) HP:0000252
15 strabismus 60 33 very rare (1%) Occasional (29-5%) HP:0000486
16 short palm 60 33 occasional (7.5%) Occasional (29-5%) HP:0004279
17 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
18 protruding ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000411
19 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
20 prominent nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000426
21 deeply set eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0000490
22 decreased testicular size 60 33 very rare (1%) Occasional (29-5%) HP:0008734
23 multiple cafe-au-lait spots 60 33 occasional (7.5%) Occasional (29-5%) HP:0007565
24 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0100490
25 tapered finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0001182
26 pectus excavatum 33 HP:0000767
27 mandibular prognathia 33 HP:0000303
28 macrotia 33 HP:0000400
29 smooth philtrum 33 HP:0000319
30 micrognathia 33 HP:0000347
31 short foot 33 HP:0001773
32 high, narrow palate 33 HP:0002705
33 myopia 33 HP:0000545
34 babinski sign 33 HP:0003487
35 intellectual disability, progressive 33 HP:0006887
36 upslanted palpebral fissure 33 HP:0000582
37 brachydactyly 33 HP:0001156
38 thin upper lip vermilion 33 HP:0000219
39 short distal phalanx of finger 33 HP:0009882
40 furrowed tongue 33 HP:0000221
41 large hands 33 HP:0001176
42 micropenis 33 HP:0000054
43 shuffling gait 33 HP:0002362
44 progressive spastic paraplegia 33 HP:0007020
45 lower limb hyperreflexia 33 HP:0002395
46 lower limb hypertonia 33 HP:0006895
47 restlessness 33 HP:0000711
48 distal lower limb amyotrophy 33 HP:0008944
49 hypermetropia 33 HP:0000540
50 facial hypotonia 33 HP:0000297

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
microcephaly

Neurologic Central Nervous System:
seizures
shuffling gait
lower limb hyperreflexia
lower limb hypertonia
extensor plantar responses
more
Head And Neck Eyes:
strabismus
myopia
hypermetropia
upslanting palpebral fissures
small, deep-set eyes
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
restlessness
low frustration tolerance
indolence
outbursts
more
Skin Nails Hair Hair:
alopecia areata
small eyelashes
abundant body hair

Head And Neck Mouth:
thin upper lip
scrotal tongue
high narrow palate

Genitourinary External Genitalia Male:
small penis
small testes

Growth Height:
short stature (less than 3rd percentile)

Chest External Features:
pectus excavatum

Head And Neck Face:
micrognathia
facial hypotonia
small forehead
maxillary hypoplasia
prognathism
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Hands:
brachydactyly
large hands
short distal phalanges
thick distal phalanges

Head And Neck Teeth:
diastema

Head And Neck Ears:
large ears
raised earlobes

Skeletal Feet:
club feet
small feet
talipes calcaneus

Muscle Soft Tissue:
lower limb muscle hypotrophy

Clinical features from OMIM:

300534

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type:


seizures, restlessness

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type:

# Genetic test Affiliating Genes
1 Mental Retardation, Syndromic, Claes-Jensen Type, X-Linked 30 KDM5C

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type:

42
Eye, Tongue, Testes

Publications for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

Articles related to Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type:

# Title Authors Year
1
A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay. ( 21575681 )
2011
2
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. ( 19826449 )
2010
3
A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD). ( 18203167 )
2008
4
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. ( 18697827 )
2008
5
A novel mutation in JARID1C gene associated with mental retardation. ( 16538222 )
2006
6
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. ( 15586325 )
2005
7
Novel syndromic form of X-linked complicated spastic paraplegia. ( 10982473 )
2000
8
Localization of non-specific X-linked mental retardation genes. ( 1605217 )
1992

Variations for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type:

76
# Symbol AA change Variation ID SNP ID
1 KDM5C p.Ala388Pro VAR_022730 rs199422235
2 KDM5C p.Asp402Tyr VAR_022731
3 KDM5C p.Glu698Lys VAR_022732 rs105751795
4 KDM5C p.Leu731Phe VAR_022733 rs199422234
5 KDM5C p.Asp87Gly VAR_032986
6 KDM5C p.Ser451Arg VAR_032987 rs199422237
7 KDM5C p.Phe642Leu VAR_032988
8 KDM5C p.Arg750Trp VAR_032989
9 KDM5C p.Tyr751Cys VAR_032990
10 KDM5C p.Pro480Leu VAR_074308 rs105751869

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 KDM5C NM_004187.3(KDM5C): c.2191C> T (p.Leu731Phe) single nucleotide variant Pathogenic rs199422234 GRCh37 Chromosome X, 53228211: 53228211
2 KDM5C NM_004187.3(KDM5C): c.2191C> T (p.Leu731Phe) single nucleotide variant Pathogenic rs199422234 GRCh38 Chromosome X, 53199029: 53199029
3 KDM5C KDM5C, 1-BP INS, 202C insertion Pathogenic
4 KDM5C NM_004187.3(KDM5C): c.1162G> C (p.Ala388Pro) single nucleotide variant Likely pathogenic rs199422235 GRCh37 Chromosome X, 53241049: 53241049
5 KDM5C NM_004187.3(KDM5C): c.1162G> C (p.Ala388Pro) single nucleotide variant Likely pathogenic rs199422235 GRCh38 Chromosome X, 53211867: 53211867
6 KDM5C NM_004187.3(KDM5C): c.2080C> T (p.Arg694Ter) single nucleotide variant Pathogenic rs199422236 GRCh37 Chromosome X, 53228322: 53228322
7 KDM5C NM_004187.3(KDM5C): c.2080C> T (p.Arg694Ter) single nucleotide variant Pathogenic rs199422236 GRCh38 Chromosome X, 53199140: 53199140
8 KDM5C NM_004187.3(KDM5C): c.1353C> G (p.Ser451Arg) single nucleotide variant Pathogenic rs199422237 GRCh37 Chromosome X, 53240727: 53240727
9 KDM5C NM_004187.3(KDM5C): c.1353C> G (p.Ser451Arg) single nucleotide variant Pathogenic rs199422237 GRCh38 Chromosome X, 53211545: 53211545
10 KDM5C NM_004187.3(KDM5C): c.2296C> T (p.Arg766Trp) single nucleotide variant Pathogenic rs199422238 GRCh37 Chromosome X, 53228018: 53228018
11 KDM5C NM_004187.3(KDM5C): c.2296C> T (p.Arg766Trp) single nucleotide variant Pathogenic rs199422238 GRCh38 Chromosome X, 53198836: 53198836
12 KDM5C NM_004187.3(KDM5C): c.229G> A (p.Ala77Thr) single nucleotide variant Pathogenic rs199422239 GRCh37 Chromosome X, 53247580: 53247580
13 KDM5C NM_004187.3(KDM5C): c.229G> A (p.Ala77Thr) single nucleotide variant Pathogenic rs199422239 GRCh38 Chromosome X, 53218398: 53218398
14 KDM5C NM_004187.3(KDM5C): c.2172C> A (p.Cys724Ter) single nucleotide variant Pathogenic rs281860639 GRCh37 Chromosome X, 53228230: 53228230
15 KDM5C NM_004187.3(KDM5C): c.2172C> A (p.Cys724Ter) single nucleotide variant Pathogenic rs281860639 GRCh38 Chromosome X, 53199048: 53199048
16 KDM5C NM_004187.3(KDM5C): c.1660C> A (p.Pro554Thr) single nucleotide variant Pathogenic rs387906729 GRCh37 Chromosome X, 53239682: 53239682
17 KDM5C NM_004187.3(KDM5C): c.1660C> A (p.Pro554Thr) single nucleotide variant Pathogenic rs387906729 GRCh38 Chromosome X, 53210500: 53210500
18 KDM5C NM_004187.3(KDM5C): c.1613C> T (p.Pro538Leu) single nucleotide variant Likely pathogenic rs587780372 GRCh37 Chromosome X, 53239729: 53239729
19 KDM5C NM_004187.3(KDM5C): c.1613C> T (p.Pro538Leu) single nucleotide variant Likely pathogenic rs587780372 GRCh38 Chromosome X, 53210547: 53210547
20 KDM5C NM_004187.3(KDM5C): c.3118C> T (p.Gln1040Ter) single nucleotide variant Pathogenic rs782246658 GRCh38 Chromosome X, 53195918: 53195918
21 KDM5C NM_004187.3(KDM5C): c.3118C> T (p.Gln1040Ter) single nucleotide variant Pathogenic rs782246658 GRCh37 Chromosome X, 53225100: 53225100
22 KDM5C NM_004187.3(KDM5C): c.156G> T (p.Trp52Cys) single nucleotide variant Pathogenic rs886037836 GRCh38 Chromosome X, 53220911: 53220911
23 KDM5C NM_004187.3(KDM5C): c.156G> T (p.Trp52Cys) single nucleotide variant Pathogenic rs886037836 GRCh37 Chromosome X, 53250093: 53250093
24 KDM5C NM_004187.3(KDM5C): c.411_412insTA (p.Ala138Terfs) insertion Pathogenic rs1057515581 GRCh37 Chromosome X, 53247088: 53247089
25 KDM5C NM_004187.3(KDM5C): c.411_412insTA (p.Ala138Terfs) insertion Pathogenic rs1057515581 GRCh38 Chromosome X, 53217906: 53217907
26 KDM5C NM_004187.3(KDM5C): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs1057518697 GRCh38 Chromosome X, 53210820: 53210820
27 KDM5C NM_004187.3(KDM5C): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs1057518697 GRCh37 Chromosome X, 53240002: 53240002
28 KDM5C NM_004187.3(KDM5C): c.2622+2dupT duplication Pathogenic rs1057519393 GRCh37 Chromosome X, 53226951: 53226951
29 KDM5C NM_004187.3(KDM5C): c.2622+2dupT duplication Pathogenic rs1057519393 GRCh38 Chromosome X, 53197769: 53197769
30 KDM5C NM_004187.3(KDM5C): c.769_770delCT (p.Leu257Alafs) deletion Pathogenic rs1060499661 GRCh38 Chromosome X, 53216085: 53216086
31 KDM5C NM_004187.3(KDM5C): c.769_770delCT (p.Leu257Alafs) deletion Pathogenic rs1060499661 GRCh37 Chromosome X, 53245267: 53245268
32 KDM5C NM_004187.3(KDM5C): c.3597_3601delTCTGC (p.Leu1200Valfs) deletion Pathogenic rs1131692227 GRCh37 Chromosome X, 53223758: 53223762
33 KDM5C NM_004187.3(KDM5C): c.3597_3601delTCTGC (p.Leu1200Valfs) deletion Pathogenic rs1131692227 GRCh38 Chromosome X, 53194576: 53194580
34 KDM5C NM_004187.3(KDM5C): c.2482C> T (p.Arg828Ter) single nucleotide variant Pathogenic rs1135401800 GRCh37 Chromosome X, 53227706: 53227706
35 KDM5C NM_004187.3(KDM5C): c.2482C> T (p.Arg828Ter) single nucleotide variant Pathogenic rs1135401800 GRCh38 Chromosome X, 53198524: 53198524
36 KDM5C NM_004187.3(KDM5C): c.470A> G (p.Tyr157Cys) single nucleotide variant Uncertain significance rs1556852793 GRCh37 Chromosome X, 53247030: 53247030
37 KDM5C NM_004187.3(KDM5C): c.470A> G (p.Tyr157Cys) single nucleotide variant Uncertain significance rs1556852793 GRCh38 Chromosome X, 53217848: 53217848
38 KDM5C NM_004187.3(KDM5C): c.595C> T (p.Gln199Ter) single nucleotide variant Pathogenic rs1556852362 GRCh38 Chromosome X, 53217205: 53217205
39 KDM5C NM_004187.3(KDM5C): c.595C> T (p.Gln199Ter) single nucleotide variant Pathogenic rs1556852362 GRCh37 Chromosome X, 53246387: 53246387
40 KDM5C NM_001146702.1(KDM5C): c.3241G> A (p.Val1081Met) single nucleotide variant Pathogenic rs782205045 GRCh38 Chromosome X, 53194735: 53194735
41 KDM5C NM_001146702.1(KDM5C): c.3241G> A (p.Val1081Met) single nucleotide variant Pathogenic rs782205045 GRCh37 Chromosome X, 53223917: 53223917
42 KDM5C NM_004187.3(KDM5C): c.1795C> T (p.Arg599Cys) single nucleotide variant Likely pathogenic rs1556842184 GRCh37 Chromosome X, 53231107: 53231107
43 KDM5C NM_004187.3(KDM5C): c.1795C> T (p.Arg599Cys) single nucleotide variant Likely pathogenic rs1556842184 GRCh38 Chromosome X, 53201925: 53201925
44 KDM5C NM_004187.3(KDM5C): c.2114G> A (p.Arg705His) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 53199106: 53199106
45 KDM5C NM_004187.3(KDM5C): c.2114G> A (p.Arg705His) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 53228288: 53228288
46 KDM5C NM_004187.3: c.3570_3573del deletion Pathogenic GRCh38 Chromosome X, 53194605: 53194608
47 KDM5C NM_004187.3: c.3570_3573del deletion Pathogenic GRCh37 Chromosome X, 53223786: 53223789
48 KDM5C NM_004187.3(KDM5C): c.593G> A (p.Arg198Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 53217207: 53217207
49 KDM5C NM_004187.3(KDM5C): c.593G> A (p.Arg198Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 53246389: 53246389
50 KDM5C NM_004187.3: c.100delA deletion Likely pathogenic GRCh38 Chromosome X, 53224793: 53224793

Expression for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type.

Pathways for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

Molecular functions related to Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 8.62 HIST2H3PS2 KDM5C

Sources for Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

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59 OMIM via Orphanet
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70 SNOMED-CT via HPO
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