MRX107
MCID: MNT333
MIFTS: 19

Mental Retardation, X-Linked 107 (MRX107)

Categories: Fetal diseases, 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 72 6
Mrx107 57 12 72
Non-Syndromic X-Linked Intellectual Disability 107 12
Mental Retardation, X-Linked, Type 107 39
X-Linked Mental Retardation 107 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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


HPO:

31
mental retardation, x-linked 107:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112054
OMIM® 57 301013
OMIM Phenotypic Series 57 PS309530
MeSH 44 D038901

Summaries for Mental Retardation, X-Linked 107

UniProtKB/Swiss-Prot : 72 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 STEEP1 (STING1 ER Exit Protein 1). Related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has material basis in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24.

More information from OMIM: 301013 PS309530

Symptoms & Phenotypes for Mental Retardation, X-Linked 107

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 macrotia 31 HP:0000400
4 mandibular prognathia 31 HP:0000303
5 smooth philtrum 31 HP:0000319
6 narrow face 31 HP:0000275
7 upslanted palpebral fissure 31 HP:0000582
8 long face 31 HP:0000276
9 autistic behavior 31 HP:0000729
10 hyperactivity 31 HP:0000752

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Articles related to Mental Retardation, X-Linked 107:

# Title Authors PMID Year
1
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. 6 57
29374277 2018

Variations for Mental Retardation, X-Linked 107

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STEEP1 NM_022101.4(STEEP1):c.159_160insTA (p.Asp54Ter) Insertion Pathogenic 523092 rs1556220029 GRCh37: X:118694313-118694314
GRCh38: X:119560350-119560351
2 STEEP1 NM_022101.4(STEEP1):c.492AGAGGA[1] (p.Glu167_Glu168del) Microsatellite Pathogenic 976767 GRCh37: X:118676478-118676483
GRCh38: X:119542515-119542520
3 STEEP1 NM_022101.4(STEEP1):c.44G>T (p.Arg15Leu) SNV Uncertain significance 1029844 GRCh37: X:118699275-118699275
GRCh38: X:119565312-119565312
4 STEEP1 NM_022101.4(STEEP1):c.158G>T (p.Arg53Leu) SNV Uncertain significance 1029843 GRCh37: X:118694315-118694315
GRCh38: X:119560352-119560352

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 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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