MRX21
MCID: MNT301
MIFTS: 31

Mental Retardation, X-Linked 21 (MRX21)

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

Aliases & Classifications for Mental Retardation, X-Linked 21

MalaCards integrated aliases for Mental Retardation, X-Linked 21:

Name: Mental Retardation, X-Linked 21 57 72
Mental Retardation, X-Linked 34 57 6 70
Mrx21 57 12 72
Mrx34 57 12 72
Non-Syndromic X-Linked Intellectual Disability 21 12
Non-Specific X-Linked Mental Retardation Type 21 72
Mental Retardation Non-Syndromic X-Linked 21 72
Mental Retardation, X-Linked 34; Mrx34 57
X-Linked Mental Retardation 21 12
X-Linked Mental Retardation 34 12
Mental Retardation X-Linked 34 72
Atkin Syndrome 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
carrier females may have mild features


HPO:

31
mental retardation, x-linked 21:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 21

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked 21: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

MalaCards based summary : Mental Retardation, X-Linked 21, also known as mental retardation, x-linked 34, is related to non-syndromic x-linked intellectual disability and pettigrew syndrome, and has symptoms including seizures An important gene associated with Mental Retardation, X-Linked 21 is IL1RAPL1 (Interleukin 1 Receptor Accessory Protein Like 1). Related phenotypes are mandibular prognathia and macroorchidism

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has material basis in hemizygous mutation in IL1RAPL1 on chromosome Xp21.3-p21.2.

OMIM® : 57 This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008). (300143) (Updated 05-Apr-2021)

Related Diseases for Mental Retardation, X-Linked 21

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked 21:



Diseases related to Mental Retardation, X-Linked 21

Symptoms & Phenotypes for Mental Retardation, X-Linked 21

Human phenotypes related to Mental Retardation, X-Linked 21:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 31 very rare (1%) HP:0000303
2 macroorchidism 31 very rare (1%) HP:0000053
3 strabismus 31 very rare (1%) HP:0000486
4 joint hypermobility 31 very rare (1%) HP:0001382
5 intellectual disability, moderate 31 very rare (1%) HP:0002342
6 nasal speech 31 very rare (1%) HP:0001611
7 synophrys 31 very rare (1%) HP:0000664
8 impulsivity 31 very rare (1%) HP:0100710
9 seizure 31 very rare (1%) HP:0001250
10 hypertelorism 31 HP:0000316
11 short nose 31 HP:0003196
12 autism 31 HP:0000717
13 dental crowding 31 HP:0000678
14 open mouth 31 HP:0000194
15 upslanted palpebral fissure 31 HP:0000582
16 tented upper lip vermilion 31 HP:0010804
17 hyperactivity 31 HP:0000752
18 uplifted earlobe 31 HP:0009909

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism
synophrys
upslanting palpebral fissures

Head And Neck Mouth:
open mouth
tented upper lip

Head And Neck Teeth:
crowded dentition

Head And Neck Face:
mild dysmorphic features
hypotonic midface
prominent jaw

Neurologic Central Nervous System:
mental retardation, moderate
seizures (1 family)

Head And Neck Nose:
short nose
thickened alae nasi and columella

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features

Skeletal:
hyperextensible joints

Head And Neck Ears:
thick ears
upturned lobes

Clinical features from OMIM®:

300143 (Updated 05-Apr-2021)

UMLS symptoms related to Mental Retardation, X-Linked 21:


seizures

Drugs & Therapeutics for Mental Retardation, X-Linked 21

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter Phase 1B Pharmacodynamics Study of MRX34, MicroRNA miR-Rx34 Liposomal Injection, in Patients With Advanced Melanoma and Biopsy Accessible Lesions Withdrawn NCT02862145 Phase 1, Phase 2 MRX34;Dexamethasone
2 A Multicenter Phase I Study of MRX34, MicroRNA miR-RX34 Liposomal Injection Terminated NCT01829971 Phase 1 MRX34

Search NIH Clinical Center for Mental Retardation, X-Linked 21

Genetic Tests for Mental Retardation, X-Linked 21

Anatomical Context for Mental Retardation, X-Linked 21

Publications for Mental Retardation, X-Linked 21

Articles related to Mental Retardation, X-Linked 21:

(show all 17)
# Title Authors PMID Year
1
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. 61 57 6
16470793 2006
2
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. 57 6
21484992 2011
3
Mutations in the calcium-related gene IL1RAPL1 are associated with autism. 57 6
18801879 2008
4
Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. 6 57
19012350 2008
5
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. 57 6
10471494 1999
6
Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3. 57 6
8230164 1993
7
Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism. 57
18005360 2008
8
Dissection of an inverted X(p21.3q27.1) chromosome associated with mental retardation. 57
14610352 2003
9
Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation. 57
9611075 1998
10
Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation. 57
8817333 1996
11
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. 57
7874164 1994
12
Mental retardation locus in Xp21 chromosome microdeletion. 57
8357005 1993
13
Generation and characterization of the induced pluripotent stem cell line SHCDNi004-A from a ten-year-old Chinese boy with X-linked mental retardation in IL1RAPL1 deficiency. 61
33774333 2021
14
Persistent accumulation of unrepaired DNA damage in rat cortical neurons: nuclear organization and ChIP-seq analysis of damaged DNA. 61
30049290 2018
15
X-linked intellectual disability related genes disrupted by balanced X-autosome translocations. 61
26290131 2015
16
Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns. 61
10766981 2000
17
Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). 61
8826457 1996

Variations for Mental Retardation, X-Linked 21

ClinVar genetic disease variations for Mental Retardation, X-Linked 21:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1377C>A (p.Tyr459Ter) SNV Pathogenic 11480 rs122461160 GRCh37: X:29973223-29973223
GRCh38: X:29955106-29955106
2 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter) SNV Pathogenic 11481 rs122461161 GRCh37: X:29973306-29973306
GRCh38: X:29955189-29955189
3 IL1RAPL1 IL1RAPL1, EX2-5DEL Deletion Pathogenic 11482 GRCh37:
GRCh38:
4 IL1RAPL1 NG_008292.1:g.700375-?_1335033+?del Deletion Pathogenic 29944 GRCh37:
GRCh38:
5 IL1RAPL1 , ZNF611 t(X;19)(p21.2;q13.41)dn Translocation Pathogenic 592169 GRCh37:
GRCh38: X:29154505-29154514
6 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1191_1201+6del Deletion Pathogenic 620044 GRCh37: X:29959899-29959915
GRCh38: X:29941782-29941798
7 IL1RAPL1 GRCh37/hg19 Xp21.2(chrX:29686547-29686621) copy number loss Pathogenic 813316 GRCh37: X:29686547-29686621
GRCh38:
8 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1602G>A (p.Leu534=) SNV Uncertain significance 913855 GRCh37: X:29973448-29973448
GRCh38: X:29955331-29955331
9 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1891G>A (p.Asp631Asn) SNV Uncertain significance 976354 GRCh37: X:29973737-29973737
GRCh38: X:29955620-29955620
10 IL1RAPL1 NM_014271.4(IL1RAPL1):c.2071A>G (p.Ile691Val) SNV Uncertain significance 983009 GRCh37: X:29973917-29973917
GRCh38: X:29955800-29955800
11 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1368T>A (p.Thr456=) SNV Uncertain significance 368196 rs1057515851 GRCh37: X:29972805-29972805
GRCh38: X:29954688-29954688
12 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1910C>G (p.Thr637Ser) SNV Uncertain significance 803783 rs756672167 GRCh37: X:29973756-29973756
GRCh38: X:29955639-29955639
13 IL1RAPL1 NM_014271.4(IL1RAPL1):c.424C>G (p.Leu142Val) SNV Uncertain significance 620022 GRCh37: X:29414436-29414436
GRCh38: X:29396319-29396319
14 IL1RAPL1 NM_014271.4(IL1RAPL1):c.408T>C (p.Gly136=) SNV Uncertain significance 913474 GRCh37: X:29414420-29414420
GRCh38: X:29396303-29396303
15 IL1RAPL1 NM_014271.4(IL1RAPL1):c.779G>A (p.Gly260Asp) SNV Uncertain significance 913476 GRCh37: X:29935581-29935581
GRCh38: X:29917464-29917464
16 IL1RAPL1 NM_014271.4(IL1RAPL1):c.-405T>A SNV Uncertain significance 368180 rs762456633 GRCh37: X:28605784-28605784
GRCh38: X:28587667-28587667
17 IL1RAPL1 NM_014271.4(IL1RAPL1):c.-402G>A SNV Uncertain significance 368181 rs1057515846 GRCh37: X:28605787-28605787
GRCh38: X:28587670-28587670
18 IL1RAPL1 NM_014271.4(IL1RAPL1):c.206G>A (p.Ser69Asn) SNV Uncertain significance 368192 rs747458852 GRCh37: X:29301178-29301178
GRCh38: X:29283061-29283061
19 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1690A>C (p.Ile564Leu) SNV Uncertain significance 368198 rs1057515852 GRCh37: X:29973536-29973536
GRCh38: X:29955419-29955419
20 IL1RAPL1 NM_014271.4(IL1RAPL1):c.-82C>A SNV Uncertain significance 368185 rs1057515849 GRCh37: X:28606107-28606107
GRCh38: X:28587990-28587990
21 IL1RAPL1 NM_014271.4(IL1RAPL1):c.-19G>A SNV Benign 281021 rs6526806 GRCh37: X:28807442-28807442
GRCh38: X:28789325-28789325
22 IL1RAPL1 NM_014271.4(IL1RAPL1):c.726C>A (p.Pro242=) SNV Benign 368193 rs748193306 GRCh37: X:29686569-29686569
GRCh38: X:29668452-29668452
23 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=) SNV Benign 368195 rs7049358 GRCh37: X:29959901-29959901
GRCh38: X:29941784-29941784
24 IL1RAPL1 NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=) SNV Benign 368189 rs148060509 GRCh37: X:28807496-28807496
GRCh38: X:28789379-28789379
25 IL1RAPL1 NM_014271.4(IL1RAPL1):c.-20C>T SNV Benign 368187 rs200878713 GRCh37: X:28807441-28807441
GRCh38: X:28789324-28789324
26 IL1RAPL1 NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=) SNV Benign 211182 rs140330609 GRCh37: X:29973913-29973913
GRCh38: X:29955796-29955796
27 IL1RAPL1 NM_014271.4(IL1RAPL1):c.-39G>A SNV Benign 368186 rs143054072 GRCh37: X:28606150-28606150
GRCh38: X:28588033-28588033
28 IL1RAPL1 NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=) SNV Benign 368188 rs143600441 GRCh37: X:28807472-28807472
GRCh38: X:28789355-28789355
29 IL1RAPL1 NM_014271.4(IL1RAPL1):c.83-6C>T SNV Benign 368191 rs180930821 GRCh37: X:29301049-29301049
GRCh38: X:29282932-29282932
30 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1089C>T (p.Gly363=) SNV Benign 368194 rs201215945 GRCh37: X:29959799-29959799
GRCh38: X:29941682-29941682
31 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1605G>T (p.Thr535=) SNV Benign 368197 rs35305747 GRCh37: X:29973451-29973451
GRCh38: X:29955334-29955334
32 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1136A>G (p.Lys379Arg) SNV Benign 913853 GRCh37: X:29959846-29959846
GRCh38: X:29941729-29941729
33 IL1RAPL1 NM_014271.4(IL1RAPL1):c.550-4A>G SNV Benign 913475 GRCh37: X:29417268-29417268
GRCh38: X:29399151-29399151
34 IL1RAPL1 NM_014271.4(IL1RAPL1):c.-25+14A>C SNV Benign 912343 GRCh37: X:28606178-28606178
GRCh38: X:28588061-28588061
35 IL1RAPL1 NM_014271.4(IL1RAPL1):c.1443C>T (p.Tyr481=) SNV Benign 913854 GRCh37: X:29973289-29973289
GRCh38: X:29955172-29955172

Expression for Mental Retardation, X-Linked 21

Search GEO for disease gene expression data for Mental Retardation, X-Linked 21.

Pathways for Mental Retardation, X-Linked 21

GO Terms for Mental Retardation, X-Linked 21

Sources for Mental Retardation, X-Linked 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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