MCID: MNT218
MIFTS: 18

Mental Retardation, X-Linked 99

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

Aliases & Classifications for Mental Retardation, X-Linked 99

MalaCards integrated aliases for Mental Retardation, X-Linked 99:

Name: Mental Retardation, X-Linked 99 57 75 29 6 73
Mrx99 57 75
Mental Retardation, X-Linked, Type 99 40

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
variable features
two families have been reported (as of curation date april 2014)


HPO:

32
mental retardation, x-linked 99:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 99

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 99: 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 99, also known as mrx99, is related to mental retardation, x-linked 99, syndromic, female-restricted. An important gene associated with Mental Retardation, X-Linked 99 is USP9X (Ubiquitin Specific Peptidase 9 X-Linked). Related phenotypes are aggressive behavior and intellectual disability

Description from OMIM: 300919

Related Diseases for Mental Retardation, X-Linked 99

Symptoms & Phenotypes for Mental Retardation, X-Linked 99

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Face:
dysmorphic features

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior (in some patients)
obsessive behaviour (in some patients)

Head And Neck Head:
prominent forehead

Skeletal Hands:
broad thumbs

Neurologic Central Nervous System:
delayed psychomotor development
mental retardation


Clinical features from OMIM:

300919

Human phenotypes related to Mental Retardation, X-Linked 99:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 aggressive behavior 32 occasional (7.5%) HP:0000718
2 intellectual disability 32 HP:0001249
3 global developmental delay 32 HP:0001263
4 generalized hypotonia 32 HP:0001290
5 short stature 32 HP:0004322
6 prominent forehead 32 HP:0011220
7 broad thumb 32 HP:0011304

Drugs & Therapeutics for Mental Retardation, X-Linked 99

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 99

Genetic Tests for Mental Retardation, X-Linked 99

Genetic tests related to Mental Retardation, X-Linked 99:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked 99 29 USP9X

Anatomical Context for Mental Retardation, X-Linked 99

Publications for Mental Retardation, X-Linked 99

Variations for Mental Retardation, X-Linked 99

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 99:

75
# Symbol AA change Variation ID SNP ID
1 USP9X p.Leu2093His VAR_071131 rs587777317

ClinVar genetic disease variations for Mental Retardation, X-Linked 99:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 USP9X NM_001039590.2(USP9X): c.6278T> A (p.Leu2093His) single nucleotide variant Pathogenic rs587777317 GRCh37 Chromosome X, 41077693: 41077693
2 USP9X NM_001039590.2(USP9X): c.6278T> A (p.Leu2093His) single nucleotide variant Pathogenic rs587777317 GRCh38 Chromosome X, 41218440: 41218440
3 USP9X NM_001039590.2(USP9X): c.7574delA (p.Gln2525Argfs) deletion Pathogenic rs587777318 GRCh37 Chromosome X, 41089848: 41089848
4 USP9X NM_001039590.2(USP9X): c.7574delA (p.Gln2525Argfs) deletion Pathogenic rs587777318 GRCh38 Chromosome X, 41230595: 41230595

Expression for Mental Retardation, X-Linked 99

Search GEO for disease gene expression data for Mental Retardation, X-Linked 99.

Pathways for Mental Retardation, X-Linked 99

GO Terms for Mental Retardation, X-Linked 99

Sources for Mental Retardation, X-Linked 99

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....