MRX108
MCID: INT342
MIFTS: 23

Intellectual Developmental Disorder, X-Linked 108 (MRX108)

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

Aliases & Classifications for Intellectual Developmental Disorder, X-Linked 108

MalaCards integrated aliases for Intellectual Developmental Disorder, X-Linked 108:

Name: Intellectual Developmental Disorder, X-Linked 108 57 72 29 6
Mrx108 57 12 72
X-Linked Intellectual Developmental Disorder 108 12 15
Mental Retardation, X-Linked 108 57 72
Mental Retardation, X-Linked, Type 108 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

Miscellaneous:
two unrelated families have been reported (last curated april 2019)


HPO:

31
intellectual developmental disorder, x-linked 108:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111844
OMIM® 57 301024
OMIM Phenotypic Series 57 PS309530
MeSH 44 D038901

Summaries for Intellectual Developmental Disorder, X-Linked 108

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder, X-linked 108: 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 : Intellectual Developmental Disorder, X-Linked 108, is also known as mrx108. An important gene associated with Intellectual Developmental Disorder, X-Linked 108 is SLC9A7 (Solute Carrier Family 9 Member A7), and among its related pathways/superpathways are Immune response Fc epsilon RI pathway and IL-2 Gene Expression in Activated and Quiescent T-Cells. Affiliated tissues include eye, and related phenotypes are delayed speech and language development and pes planus

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has material basis in hemizygous mutation in SLC9A7 on chromosome Xp11.3.

More information from OMIM: 301024 PS309530

Related Diseases for Intellectual Developmental Disorder, X-Linked 108

Diseases in the Intellectual Developmental Disorder, X-Linked 109 family:

Intellectual Developmental Disorder, X-Linked 50 Intellectual Developmental Disorder, X-Linked 108

Symptoms & Phenotypes for Intellectual Developmental Disorder, X-Linked 108

Human phenotypes related to Intellectual Developmental Disorder, X-Linked 108:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 very rare (1%) HP:0000750
2 pes planus 31 very rare (1%) HP:0001763
3 global developmental delay 31 HP:0001263
4 strabismus 31 HP:0000486
5 downslanted palpebral fissures 31 HP:0000494
6 clinodactyly of the 5th finger 31 HP:0004209
7 thin upper lip vermilion 31 HP:0000219
8 long face 31 HP:0000276
9 long philtrum 31 HP:0000343
10 deeply set eye 31 HP:0000490
11 high anterior hairline 31 HP:0009890
12 midface retrusion 31 HP:0011800
13 generalized hypotonia 31 HP:0001290
14 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
global developmental delay
delayed walking
impaired intellectual development
speech delay (in some patients)
broad-based gait (in some patients)
more
Head And Neck Face:
long face
long philtrum
flat midface
dysmorphic facial features, variable

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
fifth finger clinodactyly

Head And Neck Nose:
fine nose

Head And Neck Eyes:
strabismus
downslanting palpebral fissures
deep-set eyes

Skin Nails Hair Hair:
high anterior hairline

Head And Neck Mouth:
thin upper lip
downturned angles of the mouth

Neurologic Behavioral Psychiatric Manifestations:
friendly personality
shy demeanor

Skeletal Feet:
pes planus (in some patients)

Clinical features from OMIM®:

301024 (Updated 20-May-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder, X-Linked 108

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, X-Linked 108

Genetic Tests for Intellectual Developmental Disorder, X-Linked 108

Genetic tests related to Intellectual Developmental Disorder, X-Linked 108:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder, X-Linked 108 29 SLC9A7

Anatomical Context for Intellectual Developmental Disorder, X-Linked 108

MalaCards organs/tissues related to Intellectual Developmental Disorder, X-Linked 108:

40
Eye

Publications for Intellectual Developmental Disorder, X-Linked 108

Articles related to Intellectual Developmental Disorder, X-Linked 108:

# Title Authors PMID Year
1
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. 57 6
30335141 2019

Variations for Intellectual Developmental Disorder, X-Linked 108

ClinVar genetic disease variations for Intellectual Developmental Disorder, X-Linked 108:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC9A7 NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe) SNV Likely pathogenic 548948 rs1569507511 GRCh37: X:46502744-46502744
GRCh38: X:46643309-46643309

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder, X-Linked 108:

72
# Symbol AA change Variation ID SNP ID
1 SLC9A7 p.Leu515Phe VAR_082101

Expression for Intellectual Developmental Disorder, X-Linked 108

Search GEO for disease gene expression data for Intellectual Developmental Disorder, X-Linked 108.

Pathways for Intellectual Developmental Disorder, X-Linked 108

Pathways related to Intellectual Developmental Disorder, X-Linked 108 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.69 NFKBIA DUSP1
2
Show member pathways
10.65 NFKBIA DUSP1
3 9.95 NFKBIA DUSP1

GO Terms for Intellectual Developmental Disorder, X-Linked 108

Biological processes related to Intellectual Developmental Disorder, X-Linked 108 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 8.62 NFKBIA DUSP1

Sources for Intellectual Developmental Disorder, X-Linked 108

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