MCID: MNT196
MIFTS: 20

Mental Retardation, X-Linked 92

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

Aliases & Classifications for Mental Retardation, X-Linked 92

MalaCards integrated aliases for Mental Retardation, X-Linked 92:

Name: Mental Retardation, X-Linked 92 57 75 13 73
Mrx92 57 75
Non-Specific X-Linked Mental Retardation Type 92 75
Mental Retardation Non-Syndromic X-Linked 92 75
Mental Retardation, X-Linked, Type 92 40
Mental Retardation 92, X-Linked 29

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
obligate carriers have extremely skewed inactivation profiles


HPO:

32
mental retardation, x-linked 92:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300851
MedGen 42 C1845144
MeSH 44 D038901
UMLS 73 C1845144

Summaries for Mental Retardation, X-Linked 92

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 92: 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 92, also known as mrx92, is related to autism x-linked 2. An important gene associated with Mental Retardation, X-Linked 92 is ZNF674 (Zinc Finger Protein 674). Related phenotypes are blepharophimosis and intellectual disability

Description from OMIM: 300851

Related Diseases for Mental Retardation, X-Linked 92

Symptoms & Phenotypes for Mental Retardation, X-Linked 92

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
blepharophimosis

Neurologic Central Nervous System:
mental retardation, moderate to severe


Clinical features from OMIM:

300851

Human phenotypes related to Mental Retardation, X-Linked 92:

32
# Description HPO Frequency HPO Source Accession
1 blepharophimosis 32 very rare (1%) HP:0000581
2 intellectual disability 32 HP:0001249
3 short stature 32 very rare (1%) HP:0004322
4 decreased testicular size 32 very rare (1%) HP:0008734
5 high myopia 32 very rare (1%) HP:0011003

Drugs & Therapeutics for Mental Retardation, X-Linked 92

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 92

Genetic Tests for Mental Retardation, X-Linked 92

Genetic tests related to Mental Retardation, X-Linked 92:

# Genetic test Affiliating Genes
1 Mental Retardation 92, X-Linked 29 ZNF674

Anatomical Context for Mental Retardation, X-Linked 92

Publications for Mental Retardation, X-Linked 92

Variations for Mental Retardation, X-Linked 92

Expression for Mental Retardation, X-Linked 92

Search GEO for disease gene expression data for Mental Retardation, X-Linked 92.

Pathways for Mental Retardation, X-Linked 92

GO Terms for Mental Retardation, X-Linked 92

Sources for Mental Retardation, X-Linked 92

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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