MRX107
MCID: MNT333
MIFTS: 17

Mental Retardation, X-Linked 107 (MRX107)

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

Aliases & Classifications for Mental Retardation, X-Linked 107

MalaCards integrated aliases for Mental Retardation, X-Linked 107:

Name: Mental Retardation, X-Linked 107 57 75 6
Mrx107 57 75

Characteristics:

OMIM:

57
Miscellaneous:
onset in early childhood
patients can attend special schools and work in sheltered environments
females may be mildly affected
one dutch family has been reported (last curated april 2018)

Inheritance:
x-linked


Classifications:



Summaries for Mental Retardation, X-Linked 107

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 107: A form of mental retardation, 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 107, is also known as mrx107. An important gene associated with Mental Retardation, X-Linked 107 is CXorf56 (Chromosome X Open Reading Frame 56). Related phenotypes are intellectual disability and mandibular prognathia

Description from OMIM: 301013

Symptoms & Phenotypes for Mental Retardation, X-Linked 107

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
narrow face
long face
flat philtrum
prominent jaw

Head And Neck Ears:
large ears
prominent cruxes

Neurologic Central Nervous System:
delayed development
intellectual disability, mild to moderate

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
pervasive developmental disorder
behavioral abnormalities (in some patients)
attention disorder
transgressive behavior

Head And Neck Eyes:
upward slanting palpebral fissures

Head And Neck Mouth:
narrow upper lip


Clinical features from OMIM:

301013

Human phenotypes related to Mental Retardation, X-Linked 107:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 mandibular prognathia 32 HP:0000303
3 macrotia 32 HP:0000400
4 global developmental delay 32 HP:0001263
5 smooth philtrum 32 HP:0000319
6 narrow face 32 HP:0000275
7 long face 32 HP:0000276
8 autistic behavior 32 HP:0000729
9 hyperactivity 32 HP:0000752

Drugs & Therapeutics for Mental Retardation, X-Linked 107

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 107

Genetic Tests for Mental Retardation, X-Linked 107

Anatomical Context for Mental Retardation, X-Linked 107

Publications for Mental Retardation, X-Linked 107

Variations for Mental Retardation, X-Linked 107

ClinVar genetic disease variations for Mental Retardation, X-Linked 107:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CXorf56 NM_022101.3(CXorf56): c.159_160insTA (p.Asp54Terfs) insertion Pathogenic GRCh38 Chromosome X, 119560350: 119560351
2 CXorf56 NM_022101.3(CXorf56): c.159_160insTA (p.Asp54Terfs) insertion Pathogenic GRCh37 Chromosome X, 118694313: 118694314

Expression for Mental Retardation, X-Linked 107

Search GEO for disease gene expression data for Mental Retardation, X-Linked 107.

Pathways for Mental Retardation, X-Linked 107

GO Terms for Mental Retardation, X-Linked 107

Sources for Mental Retardation, X-Linked 107

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
Content
Loading form....