MRX103
MCID: MNT289
MIFTS: 21

Mental Retardation, X-Linked 103 (MRX103)

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

Aliases & Classifications for Mental Retardation, X-Linked 103

MalaCards integrated aliases for Mental Retardation, X-Linked 103:

Name: Mental Retardation, X-Linked 103 57 72 29 6
Mrx103 57 12 72
Non-Syndromic X-Linked Intellectual Disability 103 12
Mental Retardation, X-Linked, Type 103 39
X-Linked Mental Retardation 103 12

Characteristics:

OMIM®:

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

Miscellaneous:
two unrelated families have been reported
a female carrier in 1 family was mildly affected


HPO:

31
mental retardation, x-linked 103:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 103

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked 103: 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 103, is also known as mrx103. An important gene associated with Mental Retardation, X-Linked 103 is KLHL15 (Kelch Like Family Member 15). Related phenotypes are intellectual disability and coarse facial features

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has material basis in hemizygous mutation in KLHL15 on chromosome Xp22.11.

More information from OMIM: 300982 PS309530

Symptoms & Phenotypes for Mental Retardation, X-Linked 103

Human phenotypes related to Mental Retardation, X-Linked 103:

31 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 coarse facial features 31 HP:0000280
3 global developmental delay 31 HP:0001263
4 anteverted nares 31 HP:0000463
5 absent speech 31 HP:0001344
6 cryptorchidism 31 HP:0000028
7 wide mouth 31 HP:0000154
8 micropenis 31 HP:0000054
9 ventriculomegaly 31 HP:0002119
10 polymicrogyria 31 HP:0002126
11 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
absent speech (patient a)
seizures (patient a)
polymicrogyria (patient a)
more
Head And Neck Nose:
anteverted nares (patient a)

Genitourinary External Genitalia Male:
micropenis (patient a)

Head And Neck Face:
coarse facial features (patient a)

Head And Neck Mouth:
large mouth (patient a)

Genitourinary Internal Genitalia Male:
cryptorchidism (patient a)

Clinical features from OMIM®:

300982 (Updated 20-May-2021)

Drugs & Therapeutics for Mental Retardation, X-Linked 103

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 103

Genetic Tests for Mental Retardation, X-Linked 103

Genetic tests related to Mental Retardation, X-Linked 103:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 103 29 KLHL15

Anatomical Context for Mental Retardation, X-Linked 103

Publications for Mental Retardation, X-Linked 103

Articles related to Mental Retardation, X-Linked 103:

(showing 2, show less)
# Title Authors PMID Year
1
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 57 6
25644381 2016
2
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes. 6 57
24817631 2014

Variations for Mental Retardation, X-Linked 103

ClinVar genetic disease variations for Mental Retardation, X-Linked 103:

6 (showing 6, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KLHL15 NC_000023.10:g.24020361_24042839del Deletion Pathogenic 254657 GRCh37:
GRCh38:
2 KLHL15 NM_030624.3(KLHL15):c.1179del (p.Tyr394fs) Deletion Pathogenic 254658 GRCh37: X:24006674-24006674
GRCh38: X:23988557-23988557
3 KLHL15 NM_030624.3(KLHL15):c.710A>T (p.Lys237Met) SNV Uncertain significance 1028386 GRCh37: X:24007143-24007143
GRCh38: X:23989026-23989026
4 KLHL15 NM_030624.3(KLHL15):c.820C>T (p.Arg274Cys) SNV Uncertain significance 1028387 GRCh37: X:24007033-24007033
GRCh38: X:23988916-23988916
5 KLHL15 NM_030624.3(KLHL15):c.391G>A (p.Glu131Lys) SNV Uncertain significance 828195 rs1602008532 GRCh37: X:24024420-24024420
GRCh38: X:24006303-24006303
6 KLHL15 NM_030624.3(KLHL15):c.217C>G (p.His73Asp) SNV Uncertain significance 976080 GRCh37: X:24024594-24024594
GRCh38: X:24006477-24006477

Expression for Mental Retardation, X-Linked 103

Search GEO for disease gene expression data for Mental Retardation, X-Linked 103.

Pathways for Mental Retardation, X-Linked 103

GO Terms for Mental Retardation, X-Linked 103

Sources for Mental Retardation, X-Linked 103

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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