MRX108
MCID: INT342
MIFTS: 13

Intellectual Developmental Disorder, X-Linked 108 (MRX108)

Categories: Genetic diseases, Mental diseases, Neuronal 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 58 6
Mental Retardation, X-Linked 108 58
Mrx108 58

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

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


Classifications:



External Ids:

OMIM 58 301024

Summaries for Intellectual Developmental Disorder, X-Linked 108

MalaCards based summary : Intellectual Developmental Disorder, X-Linked 108, is also known as mental retardation, x-linked 108. An important gene associated with Intellectual Developmental Disorder, X-Linked 108 is SLC9A7 (Solute Carrier Family 9 Member A7). Affiliated tissues include eye.

Description from OMIM: 301024

Related Diseases for Intellectual Developmental Disorder, X-Linked 108

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

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
global developmental delay
delayed walking
speech delay (in some patients)
impaired intellectual development
broad-based gait (in some patients) brisk tendon reflexes

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

Muscle Soft Tissue:
hypotonia

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

Head And Neck Nose:
fine nose

Head And Neck Face:
long philtrum
long face
flat midface
dysmorphic facial features, variable

Skin Nails Hair Hair:
high anterior hairline

Skeletal Hands:
fifth finger clinodactyly

Neurologic Behavioral Psychiatric Manifestations:
friendly personality
shy demeanor

Skeletal Feet:
pes planus (in some patients)

Clinical features from OMIM:

301024

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

Anatomical Context for Intellectual Developmental Disorder, X-Linked 108

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

42
Eye

Publications for Intellectual Developmental Disorder, X-Linked 108

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

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

Variations for Intellectual Developmental Disorder, X-Linked 108

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC9A7 NM_001257291.1(SLC9A7): c.1543C> T (p.Leu515Phe) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 46502744: 46502744
2 SLC9A7 NM_001257291.1(SLC9A7): c.1543C> T (p.Leu515Phe) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 46643309: 46643309

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

GO Terms for Intellectual Developmental Disorder, X-Linked 108

Sources for Intellectual Developmental Disorder, X-Linked 108

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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