MRXSCJ
MCID: MNT228
MIFTS: 40

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 56 12 73 13 39 71
Mrxscj 56 12 73
Mrxsj 56 12 73
Syndromic X-Linked Intellectual Disability Due to Jarid1c Mutation 12 58
Syndromic X-Linked Intellectual Disability Claes-Jensen Type 12 15
Mental Retardation, Syndromic, Claes-Jensen Type, X-Linked 29 6
Mental Retardation, X-Linked, Syndromic, Jarid1c-Related; Mrxsj 56
Mental Retardation, X-Linked, Syndromic, Jarid1c-Related 56
Mental Retardation, Syndromic, X-Linked Jarid1c-Related 73
Syndromic X-Linked Mental Retardation Jarid1c-Related 12

Characteristics:

Orphanet epidemiological data:

58
syndromic x-linked intellectual disability due to jarid1c mutation
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
x-linked recessive

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


HPO:

31
mental retardation, x-linked, syndromic, claes-jensen type:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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

UniProtKB/Swiss-Prot : 73 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, also known as mrxscj, is related to kleefstra syndrome 1 and opitz-kaveggia syndrome, 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 cryptorchidism

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.

More information from OMIM: 300534 PS309510

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

Diseases related to Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kleefstra syndrome 1 10.0 KDM5C KDM4C
2 opitz-kaveggia syndrome 10.0 KDM5C IQSEC2
3 renal cell carcinoma, papillary, 1 9.8 KRTAP4-8 KDM5C KDM4C
4 kabuki syndrome 1 9.8 KDM5C KDM4C
5 syndromic x-linked intellectual disability siderius type 9.7 KDM5C KDM4C ACOT9
6 iqsec2 9.7 TSPYL2 KDM5C IQSEC2
7 mental retardation and microcephaly with pontine and cerebellar hypoplasia 9.6 TSPYL2 KDM4C IQSEC2
8 sotos syndrome 1 9.5 PWWP2B KDM5C
9 weaver syndrome 9.5 PWWP2B KDM5C KDM4C

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type:



Diseases related to 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:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
2 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
3 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
4 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
5 alopecia areata 58 31 hallmark (90%) Very frequent (99-80%) HP:0002229
6 seizures 58 31 very rare (1%) Frequent (79-30%) HP:0001250
7 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
8 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
9 short stature 58 31 very rare (1%) Frequent (79-30%) HP:0004322
10 aggressive behavior 58 31 very rare (1%) Frequent (79-30%) HP:0000718
11 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
12 clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030084
13 high palate 58 31 very rare (1%) Occasional (29-5%) HP:0000218
14 microcephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000252
15 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
16 strabismus 58 31 very rare (1%) Occasional (29-5%) HP:0000486
17 short palm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004279
18 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
19 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
20 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
21 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
22 decreased testicular size 58 31 very rare (1%) Occasional (29-5%) HP:0008734
23 multiple cafe-au-lait spots 58 31 occasional (7.5%) Occasional (29-5%) HP:0007565
24 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
25 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
26 pectus excavatum 31 HP:0000767
27 macrotia 31 HP:0000400
28 mandibular prognathia 31 HP:0000303
29 brachydactyly 31 HP:0001156
30 micrognathia 31 HP:0000347
31 smooth philtrum 31 HP:0000319
32 high, narrow palate 31 HP:0002705
33 short foot 31 HP:0001773
34 myopia 31 HP:0000545
35 babinski sign 31 HP:0003487
36 intellectual disability, progressive 31 HP:0006887
37 thin upper lip vermilion 31 HP:0000219
38 micropenis 31 HP:0000054
39 upslanted palpebral fissure 31 HP:0000582
40 short distal phalanx of finger 31 HP:0009882
41 furrowed tongue 31 HP:0000221
42 large hands 31 HP:0001176
43 shuffling gait 31 HP:0002362
44 progressive spastic paraplegia 31 HP:0007020
45 lower limb hyperreflexia 31 HP:0002395
46 lower limb hypertonia 31 HP:0006895
47 restlessness 31 HP:0000711
48 distal lower limb amyotrophy 31 HP:0008944
49 hypermetropia 31 HP:0000540
50 small forehead 31 HP:0000350

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
microcephaly

Neurologic Central Nervous System:
seizures
shuffling gait
lower limb hyperreflexia
lower limb hypertonia
extensor plantar responses
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Eyes:
strabismus
myopia
hypermetropia
upslanting palpebral fissures
small, deep-set eyes
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

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

Head And Neck Face:
micrognathia
small forehead
facial hypotonia
maxillary hypoplasia
prognathism
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
restlessness
low frustration tolerance
indolence
outbursts
more
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 29 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:

40
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 PMID Year
1
A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay. 56 6
21575681 2011
2
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. 56 6
19826449 2010
3
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 56 6
18697827 2008
4
A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD). 56 6
18203167 2008
5
A novel mutation in JARID1C gene associated with mental retardation. 56 6
16538222 2006
6
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 56 6
15586325 2005
7
Novel syndromic form of X-linked complicated spastic paraplegia. 56 6
10982473 2000
8
Localization of non-specific X-linked mental retardation genes. 56 6
1605217 1992
9
Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? 56
15364700 2004
10
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability. 61
29670509 2018

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

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

6 (show all 30) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KDM5C NM_004187.4(KDM5C):c.3118C>T (p.Gln1040Ter)SNV Pathogenic 211249 rs782246658 X:53225100-53225100 X:53195918-53195918
2 KDM5C NM_004187.4(KDM5C):c.2191C>T (p.Leu731Phe)SNV Pathogenic 9772 rs199422234 X:53228211-53228211 X:53199029-53199029
3 KDM5C NM_001146702.1(KDM5C):c.151-2904dupduplication Pathogenic 9773 X:53250046-53250047 X:53220864-53220865
4 KDM5C NM_004187.4(KDM5C):c.2080C>T (p.Arg694Ter)SNV Pathogenic 9775 rs199422236 X:53228322-53228322 X:53199140-53199140
5 KDM5C NM_004187.4(KDM5C):c.1353C>G (p.Ser451Arg)SNV Pathogenic 9776 rs199422237 X:53240727-53240727 X:53211545-53211545
6 KDM5C NM_004187.4(KDM5C):c.2296C>T (p.Arg766Trp)SNV Pathogenic 9777 rs199422238 X:53228018-53228018 X:53198836-53198836
7 KDM5C NM_001146702.1(KDM5C):c.151-432G>ASNV Pathogenic 9778 rs199422239 X:53247580-53247580 X:53218398-53218398
8 KDM5C NM_004187.4(KDM5C):c.2172C>A (p.Cys724Ter)SNV Pathogenic 29996 rs281860639 X:53228230-53228230 X:53199048-53199048
9 KDM5C NM_004187.4(KDM5C):c.1660C>A (p.Pro554Thr)SNV Pathogenic 29997 rs387906729 X:53239682-53239682 X:53210500-53210500
10 KDM5C NM_004187.4(KDM5C):c.156G>T (p.Trp52Cys)SNV Pathogenic 254174 rs886037836 X:53250093-53250093 X:53220911-53220911
11 KDM5C NM_004187.4(KDM5C):c.1439C>T (p.Pro480Leu)SNV Pathogenic 374324 rs1057518697 X:53240002-53240002 X:53210820-53210820
12 KDM5C NM_004187.4(KDM5C):c.2622+2dupduplication Pathogenic 375584 rs1057519393 X:53226950-53226951 X:53197768-53197769
13 KDM5C NM_004187.4(KDM5C):c.767_768CT[1] (p.Leu257fs)short repeat Pathogenic 397527 rs1060499661 X:53245267-53245268 X:53216085-53216086
14 KDM5C NM_004187.4(KDM5C):c.3597_3601del (p.Leu1200fs)deletion Pathogenic 430803 rs1131692227 X:53223758-53223762 X:53194576-53194580
15 KDM5C NM_004187.4(KDM5C):c.2482C>T (p.Arg828Ter)SNV Pathogenic 431128 rs1135401800 X:53227706-53227706 X:53198524-53198524
16 KDM5C NM_004187.4(KDM5C):c.595C>T (p.Gln199Ter)SNV Pathogenic 520414 rs1556852362 X:53246387-53246387 X:53217205-53217205
17 KDM5C NM_001146702.1(KDM5C):c.3241G>A (p.Val1081Met)SNV Pathogenic 522629 rs782205045 X:53223917-53223917 X:53194735-53194735
18 KDM5C NM_004187.4(KDM5C):c.3570_3573del (p.Gly1191fs)deletion Pathogenic 620032 rs1569258293 X:53223786-53223789 X:53194604-53194607
19 KDM5C NM_004187.5(KDM5C):c.807del (p.Thr270fs)deletion Pathogenic/Likely pathogenic 635109 rs1569278313 X:53245133-53245133 X:53215951-53215951
20 KDM5C NM_004187.4(KDM5C):c.593G>A (p.Arg198Gln)SNV Likely pathogenic 620008 rs1569279367 X:53246389-53246389 X:53217207-53217207
21 KDM5C NM_004187.4(KDM5C):c.100del (p.Ile34fs)deletion Likely pathogenic 620025 rs1569285361 X:53253972-53253972 X:53224790-53224790
22 KDM5C NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys)SNV Likely pathogenic 666339 X:53231036-53231036 X:53201854-53201854
23 KDM5C NM_004187.5(KDM5C):c.589dup (p.Leu197fs)duplication Likely pathogenic 666338 X:53246392-53246393 X:53217210-53217211
24 KDM5C NM_004187.4(KDM5C):c.1747G>T (p.Val583Phe)SNV Likely pathogenic 691272 X:53231155-53231155 X:53201973-53201973
25 KDM5C NM_004187.4(KDM5C):c.1795C>T (p.Arg599Cys)SNV Likely pathogenic 559937 rs1556842184 X:53231107-53231107 X:53201925-53201925
26 KDM5C NM_004187.4(KDM5C):c.1613C>T (p.Pro538Leu)SNV Likely pathogenic 129374 rs587780372 X:53239729-53239729 X:53210547-53210547
27 KDM5C NM_004187.4(KDM5C):c.1162G>C (p.Ala388Pro)SNV Likely pathogenic 9774 rs199422235 X:53241049-53241049 X:53211867-53211867
28 KDM5C NM_004187.4(KDM5C):c.2114G>A (p.Arg705His)SNV Uncertain significance 592134 rs1569264240 X:53228288-53228288 X:53199106-53199106
29 KDM5C NM_004187.4(KDM5C):c.470A>G (p.Tyr157Cys)SNV Uncertain significance 451422 rs1556852793 X:53247030-53247030 X:53217848-53217848
30 KDM5C NM_001146702.1(KDM5C):c.4047-1C>TSNV Uncertain significance 638505 X:53222020-53222020 X:53192838-53192838

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

73
# 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

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

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

# Name GO ID Score Top Affiliating Genes
1 histone methyltransferase complex GO:0035097 8.8 KDM5C KDM5A KDM4C

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

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.46 TSPYL2 KDM5C KDM5A KDM4C
2 chromatin remodeling GO:0006338 9.43 KDM5C KDM5A KDM4C
3 histone H3-K9 demethylation GO:0033169 9.32 KDM5A KDM4C
4 histone H3-K4 demethylation GO:0034720 8.96 KDM5C KDM5A
5 histone H3-K4 demethylation, trimethyl-H3-K4-specific GO:0034721 8.62 KDM5C KDM5A

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 dioxygenase activity GO:0051213 9.33 KDM5C KDM5A KDM4C
2 histone demethylase activity (H3-K9 specific) GO:0032454 9.26 KDM5A KDM4C
3 histone demethylase activity (H3-trimethyl-K4 specific) GO:0034647 8.96 KDM5C KDM5A
4 histone demethylase activity GO:0032452 8.8 KDM5C KDM5A KDM4C

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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