MRX73
MCID: MNT247
MIFTS: 17

Mental Retardation, X-Linked 73 (MRX73)

Categories: 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 58 74
Mrx73 58

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

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


HPO:

33
mental retardation, x-linked 73:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 300355
MedGen 43 C1845860
SNOMED-CT via HPO 70 253207002 263934009 86765009
UMLS 74 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 cone-rod dystrophy and hearing loss 2. 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

Description from OMIM: 300355

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:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 33 HP:0001256
2 synophrys 33 HP:0000664

Symptoms via clinical synopsis from OMIM:

58
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:

42
Brain

Publications for Mental Retardation, X-Linked 73

Articles related to Mental Retardation, X-Linked 73:

# Title Authors Year
1
Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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