MCID: MNT228
MIFTS: 27

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

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental 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 75 13 40 73
Mrxscj 57 12 75
Mrxsj 57 12 75
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 75
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:



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

UniProtKB/Swiss-Prot : 75 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 macrocephaly and clinodactyly

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
microcephaly

Neurologic Central Nervous System:
seizures
shuffling gait
lower limb hypertonia
lower limb hyperreflexia
extensor plantar responses
more
Head And Neck Eyes:
strabismus
myopia
hypermetropia
upslanting palpebral fissures
small, deep-set eyes
more
Skeletal Hands:
brachydactyly
large hands
short distal phalanges
thick distal phalanges

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
maxillary hypoplasia
prognathism
small forehead
more
GenitourinaryInternal GenitaliaMale:
cryptorchidism

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

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 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 clinodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0030084
3 high palate 59 32 very rare (1%) Occasional (29-5%) HP:0000218
4 seizures 59 32 very rare (1%) Frequent (79-30%) HP:0001250
5 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
6 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
7 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
8 microcephaly 59 32 very rare (1%) Occasional (29-5%) HP:0000252
9 short stature 59 32 very rare (1%) Frequent (79-30%) HP:0004322
10 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
11 strabismus 59 32 very rare (1%) Occasional (29-5%) HP:0000486
12 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
13 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
14 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
15 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
16 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
17 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
18 decreased testicular size 59 32 very rare (1%) Occasional (29-5%) HP:0008734
19 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
20 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
21 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
22 aggressive behavior 59 32 very rare (1%) Frequent (79-30%) HP:0000718
23 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
24 tapered finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0001182
25 alopecia areata 59 32 hallmark (90%) Very frequent (99-80%) HP:0002229
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 short foot 32 HP:0001773
32 high, narrow palate 32 HP:0002705
33 myopia 32 HP:0000545
34 babinski sign 32 HP:0003487
35 intellectual disability, progressive 32 HP:0006887
36 upslanted palpebral fissure 32 HP:0000582
37 brachydactyly 32 HP:0001156
38 thin upper lip vermilion 32 HP:0000219
39 short distal phalanx of finger 32 HP:0009882
40 furrowed tongue 32 HP:0000221
41 large hands 32 HP:0001176
42 shuffling gait 32 HP:0002362
43 progressive spastic paraplegia 32 HP:0007020
44 lower limb hypertonia 32 HP:0006895
45 micropenis 32 HP:0000054
46 restlessness 32 HP:0000711
47 distal lower limb amyotrophy 32 HP:0008944
48 lower limb hyperreflexia 32 HP:0002395
49 hypermetropia 32 HP:0000540
50 facial hypotonia 32 HP:0000297

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
Eye, Tongue, Testes

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

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:

75
# 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 rs1057517955Mental
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 rs1057518697Mental

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

6
(show all 45)
# 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.3126_3128delTGAinsCAGG (p.Asp1043Argfs) indel Pathogenic rs797044682 GRCh37 Chromosome X, 53224585: 53224587
21 KDM5C NM_004187.3(KDM5C): c.3126_3128delTGAinsCAGG (p.Asp1043Argfs) indel Pathogenic rs797044682 GRCh38 Chromosome X, 53195403: 53195405
22 KDM5C NM_004187.3(KDM5C): c.351+1G> T single nucleotide variant Pathogenic rs797044706 GRCh37 Chromosome X, 53247457: 53247457
23 KDM5C NM_004187.3(KDM5C): c.351+1G> T single nucleotide variant Pathogenic rs797044706 GRCh38 Chromosome X, 53218275: 53218275
24 KDM5C NM_004187.3(KDM5C): c.486T> A (p.Tyr162Ter) single nucleotide variant Pathogenic rs797044731 GRCh37 Chromosome X, 53247014: 53247014
25 KDM5C NM_004187.3(KDM5C): c.486T> A (p.Tyr162Ter) single nucleotide variant Pathogenic rs797044731 GRCh38 Chromosome X, 53217832: 53217832
26 KDM5C NM_004187.3(KDM5C): c.3118C> T (p.Gln1040Ter) single nucleotide variant Pathogenic rs782246658 GRCh38 Chromosome X, 53195918: 53195918
27 KDM5C NM_004187.3(KDM5C): c.3118C> T (p.Gln1040Ter) single nucleotide variant Pathogenic rs782246658 GRCh37 Chromosome X, 53225100: 53225100
28 KDM5C NM_004187.3(KDM5C): c.156G> T (p.Trp52Cys) single nucleotide variant Pathogenic rs886037836 GRCh38 Chromosome X, 53220911: 53220911
29 KDM5C NM_004187.3(KDM5C): c.156G> T (p.Trp52Cys) single nucleotide variant Pathogenic rs886037836 GRCh37 Chromosome X, 53250093: 53250093
30 KDM5C NM_004187.3(KDM5C): c.411_412insTA (p.Ala138Terfs) insertion Pathogenic rs1057515581 GRCh37 Chromosome X, 53247088: 53247089
31 KDM5C NM_004187.3(KDM5C): c.411_412insTA (p.Ala138Terfs) insertion Pathogenic rs1057515581 GRCh38 Chromosome X, 53217906: 53217907
32 KDM5C NM_004187.3(KDM5C): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs1057518697 GRCh38 Chromosome X, 53210820: 53210820
33 KDM5C NM_004187.3(KDM5C): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs1057518697 GRCh37 Chromosome X, 53240002: 53240002
34 KDM5C NM_004187.3(KDM5C): c.2622+2dupT duplication Pathogenic rs1057519393 GRCh37 Chromosome X, 53226951: 53226951
35 KDM5C NM_004187.3(KDM5C): c.2622+2dupT duplication Pathogenic rs1057519393 GRCh38 Chromosome X, 53197769: 53197769
36 KDM5C NM_004187.3(KDM5C): c.769_770delCT (p.Leu257Alafs) deletion Pathogenic rs1060499661 GRCh38 Chromosome X, 53216085: 53216086
37 KDM5C NM_004187.3(KDM5C): c.769_770delCT (p.Leu257Alafs) deletion Pathogenic rs1060499661 GRCh37 Chromosome X, 53245267: 53245268
38 KDM5C NM_004187.3(KDM5C): c.3597_3601delTCTGC (p.Leu1200Valfs) deletion Pathogenic rs1131692227 GRCh37 Chromosome X, 53223758: 53223762
39 KDM5C NM_004187.3(KDM5C): c.3597_3601delTCTGC (p.Leu1200Valfs) deletion Pathogenic rs1131692227 GRCh38 Chromosome X, 53194576: 53194580
40 KDM5C NM_004187.3(KDM5C): c.2482C> T (p.Arg828Ter) single nucleotide variant Pathogenic rs1135401800 GRCh37 Chromosome X, 53227706: 53227706
41 KDM5C NM_004187.3(KDM5C): c.2482C> T (p.Arg828Ter) single nucleotide variant Pathogenic rs1135401800 GRCh38 Chromosome X, 53198524: 53198524
42 KDM5C NM_004187.3(KDM5C): c.595C> T (p.Gln199Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 53217205: 53217205
43 KDM5C NM_004187.3(KDM5C): c.595C> T (p.Gln199Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 53246387: 53246387
44 KDM5C NM_001146702.1(KDM5C): c.3241G> A (p.Val1081Met) single nucleotide variant Pathogenic rs782205045 GRCh38 Chromosome X, 53194735: 53194735
45 KDM5C NM_001146702.1(KDM5C): c.3241G> A (p.Val1081Met) single nucleotide variant Pathogenic rs782205045 GRCh37 Chromosome X, 53223917: 53223917

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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