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 57 12 74 13 40 72
Mrxscj 57 12 74
Mrxsj 57 12 74
Syndromic X-Linked Intellectual Disability Due to Jarid1c Mutation 12 59
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 57
Mental Retardation, X-Linked, Syndromic, Jarid1c-Related 57
Mental Retardation, Syndromic, X-Linked Jarid1c-Related 74
Syndromic X-Linked Mental Retardation Jarid1c-Related 12

Characteristics:

Orphanet epidemiological data:

59
syndromic x-linked intellectual disability due to jarid1c mutation
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
mental retardation, x-linked, syndromic, claes-jensen type:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060809
MeSH 44 D038901
ICD10 33 Q87.8
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1845243
Orphanet 59 ORPHA85279
MedGen 42 C1845243
UMLS 72 C1845243

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

UniProtKB/Swiss-Prot : 74 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 tongue, eye 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.

More information from OMIM: 300534 PS309510

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:

59 32 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
2 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
3 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
4 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
5 alopecia areata 59 32 hallmark (90%) Very frequent (99-80%) HP:0002229
6 seizures 59 32 very rare (1%) Frequent (79-30%) HP:0001250
7 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
8 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
9 short stature 59 32 very rare (1%) Frequent (79-30%) HP:0004322
10 aggressive behavior 59 32 very rare (1%) Frequent (79-30%) HP:0000718
11 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
12 clinodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0030084
13 high palate 59 32 very rare (1%) Occasional (29-5%) HP:0000218
14 microcephaly 59 32 very rare (1%) Occasional (29-5%) HP:0000252
15 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
16 strabismus 59 32 very rare (1%) Occasional (29-5%) HP:0000486
17 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
18 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
19 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
20 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
21 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
22 decreased testicular size 59 32 very rare (1%) Occasional (29-5%) HP:0008734
23 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
24 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
25 tapered finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0001182
26 pectus excavatum 32 HP:0000767
27 mandibular prognathia 32 HP:0000303
28 macrotia 32 HP:0000400
29 smooth philtrum 32 HP:0000319
30 micrognathia 32 HP:0000347
31 high, narrow palate 32 HP:0002705
32 short foot 32 HP:0001773
33 myopia 32 HP:0000545
34 babinski sign 32 HP:0003487
35 intellectual disability, progressive 32 HP:0006887
36 micropenis 32 HP:0000054
37 brachydactyly 32 HP:0001156
38 upslanted palpebral fissure 32 HP:0000582
39 thin upper lip vermilion 32 HP:0000219
40 short distal phalanx of finger 32 HP:0009882
41 furrowed tongue 32 HP:0000221
42 large hands 32 HP:0001176
43 shuffling gait 32 HP:0002362
44 progressive spastic paraplegia 32 HP:0007020
45 lower limb hyperreflexia 32 HP:0002395
46 lower limb hypertonia 32 HP:0006895
47 restlessness 32 HP:0000711
48 distal lower limb amyotrophy 32 HP:0008944
49 hypermetropia 32 HP:0000540
50 small forehead 32 HP:0000350

Symptoms via clinical synopsis from OMIM:

57
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
small forehead
facial hypotonia
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 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:

41
Tongue, Eye, 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. 8 71
21575681 2011
2
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. 8 71
19826449 2010
3
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 8 71
18697827 2008
4
A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD). 8 71
18203167 2008
5
A novel mutation in JARID1C gene associated with mental retardation. 8 71
16538222 2006
6
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. 8 71
15586325 2005
7
Novel syndromic form of X-linked complicated spastic paraplegia. 8 71
10982473 2000
8
Localization of non-specific X-linked mental retardation genes. 8 71
1605217 1992
9
Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? 8
15364700 2004
10
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability. 38
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 27)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KDM5C NM_004187.4(KDM5C): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs1057518697 X:53240002-53240002 X:53210820-53210820
2 KDM5C NM_004187.4(KDM5C): c.2622+2dup duplication Pathogenic rs1057519393 X:53226951-53226951 X:53197769-53197769
3 KDM5C NM_004187.4(KDM5C): c.767_768CT[1] (p.Leu257fs) short repeat Pathogenic rs1060499661 X:53245267-53245268 X:53216085-53216086
4 KDM5C NM_004187.4(KDM5C): c.3597_3601del (p.Leu1200fs) deletion Pathogenic rs1131692227 X:53223758-53223762 X:53194576-53194580
5 KDM5C NM_004187.4(KDM5C): c.2482C> T (p.Arg828Ter) single nucleotide variant Pathogenic rs1135401800 X:53227706-53227706 X:53198524-53198524
6 KDM5C NM_004187.4(KDM5C): c.595C> T (p.Gln199Ter) single nucleotide variant Pathogenic rs1556852362 X:53246387-53246387 X:53217205-53217205
7 KDM5C NM_004187.4(KDM5C): c.3442G> A (p.Val1148Met) single nucleotide variant Pathogenic rs782205045 X:53223917-53223917 X:53194735-53194735
8 KDM5C NM_004187.4(KDM5C): c.2191C> T (p.Leu731Phe) single nucleotide variant Pathogenic rs199422234 X:53228211-53228211 X:53199029-53199029
9 KDM5C KDM5C, 1-BP INS, 202C insertion Pathogenic
10 KDM5C NM_004187.4(KDM5C): c.2080C> T (p.Arg694Ter) single nucleotide variant Pathogenic rs199422236 X:53228322-53228322 X:53199140-53199140
11 KDM5C NM_004187.4(KDM5C): c.1353C> G (p.Ser451Arg) single nucleotide variant Pathogenic rs199422237 X:53240727-53240727 X:53211545-53211545
12 KDM5C NM_004187.4(KDM5C): c.2296C> T (p.Arg766Trp) single nucleotide variant Pathogenic rs199422238 X:53228018-53228018 X:53198836-53198836
13 KDM5C NM_004187.4(KDM5C): c.229G> A (p.Ala77Thr) single nucleotide variant Pathogenic rs199422239 X:53247580-53247580 X:53218398-53218398
14 KDM5C NM_004187.4(KDM5C): c.2172C> A (p.Cys724Ter) single nucleotide variant Pathogenic rs281860639 X:53228230-53228230 X:53199048-53199048
15 KDM5C NM_004187.4(KDM5C): c.1660C> A (p.Pro554Thr) single nucleotide variant Pathogenic rs387906729 X:53239682-53239682 X:53210500-53210500
16 KDM5C NM_004187.4(KDM5C): c.3118C> T (p.Gln1040Ter) single nucleotide variant Pathogenic rs782246658 X:53225100-53225100 X:53195918-53195918
17 KDM5C NM_004187.4(KDM5C): c.156G> T (p.Trp52Cys) single nucleotide variant Pathogenic rs886037836 X:53250093-53250093 X:53220911-53220911
18 KDM5C NM_004187.4(KDM5C): c.3570_3573del (p.Gly1191fs) deletion Pathogenic X:53223786-53223789 X:53194605-53194608
19 KDM5C NM_004187.4(KDM5C): c.807del (p.Thr270fs) deletion Pathogenic X:53245133-53245133 X:53215956-53215956
20 KDM5C NM_004187.4(KDM5C): c.593G> A (p.Arg198Gln) single nucleotide variant Likely pathogenic X:53246389-53246389 X:53217207-53217207
21 KDM5C NM_004187.4(KDM5C): c.100del (p.Ile34fs) deletion Likely pathogenic X:53253972-53253972 X:53224793-53224793
22 KDM5C NM_004187.4(KDM5C): c.1613C> T (p.Pro538Leu) single nucleotide variant Likely pathogenic rs587780372 X:53239729-53239729 X:53210547-53210547
23 KDM5C NM_004187.4(KDM5C): c.1162G> C (p.Ala388Pro) single nucleotide variant Likely pathogenic rs199422235 X:53241049-53241049 X:53211867-53211867
24 KDM5C NM_004187.4(KDM5C): c.1795C> T (p.Arg599Cys) single nucleotide variant Likely pathogenic rs1556842184 X:53231107-53231107 X:53201925-53201925
25 KDM5C NM_004187.4(KDM5C): c.470A> G (p.Tyr157Cys) single nucleotide variant Uncertain significance rs1556852793 X:53247030-53247030 X:53217848-53217848
26 KDM5C NM_004187.4(KDM5C): c.2114G> A (p.Arg705His) single nucleotide variant Uncertain significance X:53228288-53228288 X:53199106-53199106
27 KDM5C NM_004187.4(KDM5C): c.*129C> T single nucleotide variant Uncertain significance X:53222020-53222020 X:53192838-53192838

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

74
# 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

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

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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