MCID: MNT301
MIFTS: 24

Mental Retardation, X-Linked 21

Categories: Genetic diseases, Neuronal diseases, Mental 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 75
Mental Retardation, X-Linked 34 57 73
Mental Retardation 21, X-Linked 29 6
Mrx21 57 75
Mrx34 57 75
Non-Specific X-Linked Mental Retardation Type 21 75
Mental Retardation Non-Syndromic X-Linked 21 75
Mental Retardation, X-Linked 34; Mrx34 57
Mental Retardation X-Linked 34 75
Atkin Syndrome 73

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
carrier females may have mild features


HPO:

32
mental retardation, x-linked 21:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 21

UniProtKB/Swiss-Prot : 75 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, is also known as mental retardation, x-linked 34, 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 hypertelorism and seizures

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)

Symptoms & Phenotypes for Mental Retardation, X-Linked 21

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 seizures 32 occasional (7.5%) HP:0001250
3 mandibular prognathia 32 HP:0000303
4 short nose 32 HP:0003196
5 autism 32 HP:0000717
6 intellectual disability, moderate 32 HP:0002342
7 dental crowding 32 HP:0000678
8 joint hypermobility 32 HP:0001382
9 open mouth 32 HP:0000194
10 upslanted palpebral fissure 32 HP:0000582
11 tented upper lip vermilion 32 HP:0010804
12 synophrys 32 HP:0000664
13 hyperactivity 32 HP:0000752
14 uplifted earlobe 32 HP:0009909

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 Pharmacodynamics Study of MRX34, MicroRNA Liposomal Injection in Melanoma Patients With 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

Genetic tests related to Mental Retardation, X-Linked 21:

# Genetic test Affiliating Genes
1 Mental Retardation 21, X-Linked 29 IL1RAPL1

Anatomical Context for Mental Retardation, X-Linked 21

Publications for Mental Retardation, X-Linked 21

Variations for Mental Retardation, X-Linked 21

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IL1RAPL1 NM_014271.3(IL1RAPL1): c.1377C> A (p.Tyr459Ter) single nucleotide variant Pathogenic rs122461160 GRCh37 Chromosome X, 29973223: 29973223
2 IL1RAPL1 NM_014271.3(IL1RAPL1): c.1377C> A (p.Tyr459Ter) single nucleotide variant Pathogenic rs122461160 GRCh38 Chromosome X, 29955106: 29955106
3 IL1RAPL1 NM_014271.3(IL1RAPL1): c.1460G> A (p.Trp487Ter) single nucleotide variant Pathogenic rs122461161 GRCh37 Chromosome X, 29973306: 29973306
4 IL1RAPL1 NM_014271.3(IL1RAPL1): c.1460G> A (p.Trp487Ter) single nucleotide variant Pathogenic rs122461161 GRCh38 Chromosome X, 29955189: 29955189
5 IL1RAPL1 IL1RAPL1, EX2-5DEL deletion Pathogenic
6 IL1RAPL1 NG_008292.1: g.700375-?_1335033+?del deletion Pathogenic

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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