MRX73
MCID: MNT247
MIFTS: 18

Mental Retardation, X-Linked 73 (MRX73)

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

Aliases & Classifications for Mental Retardation, X-Linked 73

MalaCards integrated aliases for Mental Retardation, X-Linked 73:

Name: Mental Retardation, X-Linked 73 57 72
Mrx73 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
one 4-generation family with 5 affected males has been reported (last curated may 2016)


HPO:

32
mental retardation, x-linked 73:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



External Ids:

MedGen 42 C1845860
UMLS 72 C1845860

Summaries for Mental Retardation, X-Linked 73

MalaCards based summary : Mental Retardation, X-Linked 73, also known as mrx73, is related to autism x-linked 2 and craniosynostosis with fibular aplasia. An important gene associated with Mental Retardation, X-Linked 73 is MRX73 (Mental Retardation, X-Linked 73). Affiliated tissues include brain and testes, and related phenotypes are intellectual disability, mild and synophrys

More information from OMIM: 300355 PS309530

Related Diseases for Mental Retardation, X-Linked 73

Symptoms & Phenotypes for Mental Retardation, X-Linked 73

Human phenotypes related to Mental Retardation, X-Linked 73:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 32 HP:0001256
2 synophrys 32 HP:0000664

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation, mild to moderate
normal brain ct

Neurologic Behavioral Psychiatric Manifestations:
outgoing personality without autistic traits

Head And Neck Face:
synophrys, mild

Clinical features from OMIM:

300355

Drugs & Therapeutics for Mental Retardation, X-Linked 73

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 73

Genetic Tests for Mental Retardation, X-Linked 73

Anatomical Context for Mental Retardation, X-Linked 73

MalaCards organs/tissues related to Mental Retardation, X-Linked 73:

41
Brain, Testes

Publications for Mental Retardation, X-Linked 73

Articles related to Mental Retardation, X-Linked 73:

# Title Authors PMID Year
1
Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2. 38 8
11477616 2001
2
Fragile X and X-linked intellectual disability: four decades of discovery. 71
22482801 2012
3
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. 71
21956720 2011
4
Familial deletion within NLGN4 associated with autism and Tourette syndrome. 71
18231125 2008
5
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. 71
14963808 2004

Variations for Mental Retardation, X-Linked 73

Expression for Mental Retardation, X-Linked 73

Search GEO for disease gene expression data for Mental Retardation, X-Linked 73.

Pathways for Mental Retardation, X-Linked 73

GO Terms for Mental Retardation, X-Linked 73

Sources for Mental Retardation, X-Linked 73

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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