MCID: MNT224
MIFTS: 21

Mental Retardation, X-Linked 101

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Mental Retardation, X-Linked 101

MalaCards integrated aliases for Mental Retardation, X-Linked 101:

Name: Mental Retardation, X-Linked 101 54 24 71 29 69
Mrx101 24 71

Characteristics:

OMIM:

54
Miscellaneous:
onset at birth
one family from punjab, india has been reported (last curated august 2014)

Inheritance:
x-linked recessive


HPO:

32
mental retardation, x-linked 101:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 101

UniProtKB/Swiss-Prot : 71 Mental retardation, X-linked 101: 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. MRX101 clinical features include global developmental delay, hyperactivity often with aggressive outbursts, and seizures in some patients. Several affected individuals have long face, prominent ears, and squint or strabismus.

MalaCards based summary : Mental Retardation, X-Linked 101, is also known as mrx101, and has symptoms including strabismus, absent speech and seizures. An important gene associated with Mental Retardation, X-Linked 101 is MID2 (Midline 2). The drugs Dopamine and Ecopipam have been mentioned in the context of this disorder.

Description from OMIM: 300928

Symptoms & Phenotypes for Mental Retardation, X-Linked 101

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
mental retardation
seizures (in some patients)
global developmental delay
poor speech
lack of speech
more
Neurologic- Behavioral Psychiatric Manifestations:
hyperactivity
aggressive outbursts

Head And Neck- Face:
long face (in some patients)

Head And Neck- Eyes:
strabismus
squint

Head And Neck- Ears:
large ears (in some patients)


Clinical features from OMIM:

300928

Human phenotypes related to Mental Retardation, X-Linked 101:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 strabismus 32 HP:0000486
2 absent speech 32 HP:0001344
3 seizures 32 occasional (7.5%) HP:0001250
4 long face 32 occasional (7.5%) HP:0000276
5 global developmental delay 32 HP:0001263
6 intellectual disability 32 HP:0001249
7 hyperactivity 32 HP:0000752
8 poor speech 32 HP:0002465
9 macrotia 32 occasional (7.5%) HP:0000400

Drugs & Therapeutics for Mental Retardation, X-Linked 101

Drugs for Mental Retardation, X-Linked 101 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3,Phase 1 51-61-6, 62-31-7 681
2 Ecopipam Investigational Phase 3,Phase 1 112108-01-7
3 Antipsychotic Agents Phase 3,Phase 1
4 Central Nervous System Depressants Phase 3,Phase 1
5 Dopamine Agents Phase 3,Phase 1
6 Dopamine Antagonists Phase 3,Phase 1
7 Neurotransmitter Agents Phase 3,Phase 1
8 Psychotropic Drugs Phase 3,Phase 1
9 Tranquilizing Agents Phase 3,Phase 1
10
Gaboxadol Investigational Phase 1 64603-91-4 3448
11 Antibodies Phase 1
12 Antibodies, Monoclonal Phase 1
13 Immunoglobulins Phase 1
14 insulin Phase 1
15 Insulin, Globin Zinc Phase 1
16 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease Terminated NCT01751802 Phase 3 Ecopipam;Placebo
2 A Study of JR-141 in Patients With Mucopolysaccharidosis Type II Completed NCT03128593 Phase 1, Phase 2 JR-141
3 Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease Completed NCT01065558 Phase 1 Ecopipam
4 Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome Recruiting NCT02262338 Phase 1 AGT-182
5 Single Dose Pharmacokinetic (PK) Study Active, not recruiting NCT03109756 Phase 1 OV101

Search NIH Clinical Center for Mental Retardation, X-Linked 101

Genetic Tests for Mental Retardation, X-Linked 101

Genetic tests related to Mental Retardation, X-Linked 101:

id Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 101 29 24 MID2

Anatomical Context for Mental Retardation, X-Linked 101

Publications for Mental Retardation, X-Linked 101

Variations for Mental Retardation, X-Linked 101

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 101:

71
id Symbol AA change Variation ID SNP ID
1 MID2 p.Arg347Gln VAR_071836 rs587777605

ClinVar genetic disease variations for Mental Retardation, X-Linked 101:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MID2 NM_012216.3(MID2): c.1040G> A (p.Arg347Gln) single nucleotide variant Pathogenic rs587777605 GRCh37 Chromosome X, 107148823: 107148823

Expression for Mental Retardation, X-Linked 101

Search GEO for disease gene expression data for Mental Retardation, X-Linked 101.

Pathways for Mental Retardation, X-Linked 101

GO Terms for Mental Retardation, X-Linked 101

Sources for Mental Retardation, X-Linked 101

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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