MRX73
MCID: MNT247
MIFTS: 16

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 71
Mrx73 57 12
Non-Syndromic X-Linked Intellectual Disability 73 12
X-Linked Mental Retardation 73 12

Characteristics:

OMIM®:

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

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


HPO:

31
mental retardation, x-linked 73:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112017
OMIM® 57 300355
OMIM Phenotypic Series 57 PS309530
MedGen 41 C1845860
SNOMED-CT via HPO 68 253207002 263934009 86765009
UMLS 71 C1845860

Summaries for Mental Retardation, X-Linked 73

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has material basis in hemizygous mutation in a region on chromosome Xp22.2.

MalaCards based summary : Mental Retardation, X-Linked 73, also known as mrx73, is related to craniosynostosis with fibular aplasia and coffin-lowry syndrome. An important gene associated with Mental Retardation, X-Linked 73 is MRX73 (Mental Retardation, X-Linked 73). Affiliated tissues include brain, 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:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 31 HP:0001256
2 synophrys 31 HP:0000664

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

40
Brain

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. 57 61
11477616 2001

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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....