MRX99
MCID: MNT218
MIFTS: 24

Mental Retardation, X-Linked 99 (MRX99)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal 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 72 29 6 70
Mrx99 57 12 72
Non-Syndromic X-Linked Intellectual Disability 99 12
Mental Retardation, X-Linked, Type 99 39
X-Linked Mental Retardation 99 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable features
two families have been reported (as of curation date april 2014)

Inheritance:
x-linked recessive


HPO:

31
mental retardation, x-linked 99:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112026
OMIM® 57 300919
OMIM Phenotypic Series 57 PS309530
MeSH 44 D038901
UMLS 70 C3806746

Summaries for Mental Retardation, X-Linked 99

UniProtKB/Swiss-Prot : 72 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

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has material basis in hemizygous mutation in USP9X on chromosome Xp11.4.

More information from OMIM: 300919 PS309530

Related Diseases for Mental Retardation, X-Linked 99

Symptoms & Phenotypes for Mental Retardation, X-Linked 99

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 aggressive behavior 31 occasional (7.5%) HP:0000718
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 short stature 31 HP:0004322
5 broad thumb 31 HP:0011304
6 prominent forehead 31 HP:0011220
7 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
broad thumbs

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

Head And Neck Head:
prominent forehead

Neurologic Central Nervous System:
mental retardation
delayed psychomotor development

Head And Neck Face:
dysmorphic features

Clinical features from OMIM®:

300919 (Updated 05-Apr-2021)

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

Articles related to Mental Retardation, X-Linked 99:

# Title Authors PMID Year
1
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. 57 6
24607389 2014
2
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 57 6
19377476 2009

Variations for Mental Retardation, X-Linked 99

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

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 USP9X NM_001039591.3(USP9X):c.6278T>A (p.Leu2093His) SNV Pathogenic 127090 rs587777317 GRCh37: X:41077693-41077693
GRCh38: X:41218440-41218440
2 USP9X NM_001039591.3(USP9X):c.7526del (p.Gln2509fs) Deletion Pathogenic 127091 rs587777318 GRCh37: X:41089848-41089848
GRCh38: X:41230595-41230595
3 USP9X NM_001039591.3(USP9X):c.2026C>T (p.Gln676Ter) SNV Pathogenic 1034402 GRCh37: X:41025165-41025165
GRCh38: X:41165912-41165912
4 USP9X NM_001039591.3(USP9X):c.260del (p.Pro87fs) Deletion Pathogenic 816935 rs1601957478 GRCh37: X:40990726-40990726
GRCh38: X:41131473-41131473
5 USP9X NM_001039591.3(USP9X):c.1315-4A>G SNV Likely pathogenic 384654 rs1057522024 GRCh37: X:41003771-41003771
GRCh38: X:41144518-41144518
6 USP9X NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro) SNV Likely pathogenic 620023 GRCh37: X:40999925-40999925
GRCh38: X:41140672-41140672
7 USP9X NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser) SNV Uncertain significance 520886 rs369178019 GRCh37: X:41055921-41055921
GRCh38: X:41196668-41196668
8 USP9X NM_001039591.3(USP9X):c.2888C>A (p.Ala963Asp) SNV Uncertain significance 1028975 GRCh37: X:41029733-41029733
GRCh38: X:41170480-41170480
9 USP9X NM_001039591.3(USP9X):c.4829A>G (p.Asn1610Ser) SNV Uncertain significance 1028976 GRCh37: X:41064560-41064560
GRCh38: X:41205307-41205307
10 USP9X NM_001039591.3(USP9X):c.6359T>C (p.Ile2120Thr) SNV Uncertain significance 1028977 GRCh37: X:41077774-41077774
GRCh38: X:41218521-41218521
11 USP9X NM_001039591.3(USP9X):c.7431+9dup Duplication Uncertain significance 423784 rs774054468 GRCh37: X:41089034-41089035
GRCh38: X:41229781-41229782
12 USP9X NM_001039591.3(USP9X):c.1986-5dup Duplication Uncertain significance 1034401 GRCh37: X:41025114-41025115
GRCh38: X:41165861-41165862
13 USP9X NM_001039591.3(USP9X):c.4469C>T (p.Pro1490Leu) SNV Uncertain significance 548018 rs1555929612 GRCh37: X:41057869-41057869
GRCh38: X:41198616-41198616
14 USP9X NM_001039591.3(USP9X):c.1877G>A (p.Ser626Asn) SNV Uncertain significance 562221 rs1569170734 GRCh37: X:41012314-41012314
GRCh38: X:41153061-41153061
15 USP9X NM_001039591.3(USP9X):c.2663T>G (p.Phe888Cys) SNV Uncertain significance 592151 rs1174582313 GRCh37: X:41029274-41029274
GRCh38: X:41170021-41170021
16 USP9X NM_001039591.3(USP9X):c.2638G>A (p.Ala880Thr) SNV Uncertain significance 982847 GRCh37: X:41029249-41029249
GRCh38: X:41169996-41169996
17 USP9X NM_001039591.3(USP9X):c.1282T>G (p.Leu428Val) SNV Uncertain significance 931438 GRCh37: X:41002664-41002664
GRCh38: X:41143411-41143411
18 USP9X NM_001039591.3(USP9X):c.6075C>T (p.Asn2025=) SNV Uncertain significance 931478 GRCh37: X:41075895-41075895
GRCh38: X:41216642-41216642
19 USP9X NM_001039591.3(USP9X):c.3410C>T (p.Pro1137Leu) SNV Uncertain significance 988733 GRCh37: X:41043780-41043780
GRCh38: X:41184527-41184527
20 USP9X NM_001039591.3(USP9X):c.986A>C (p.Lys329Thr) SNV Uncertain significance 1028979 GRCh37: X:41000434-41000434
GRCh38: X:41141181-41141181
21 USP9X NM_001039591.3(USP9X):c.7366T>C (p.Phe2456Leu) SNV Uncertain significance 1028978 GRCh37: X:41088967-41088967
GRCh38: X:41229714-41229714
22 USP9X NM_001039591.3(USP9X):c.1700T>C (p.Ile567Thr) SNV Uncertain significance 1028481 GRCh37: X:41010247-41010247
GRCh38: X:41150994-41150994
23 USP9X NM_001039591.3(USP9X):c.131C>T (p.Pro44Leu) SNV Uncertain significance 1028480 GRCh37: X:40988287-40988287
GRCh38: X:41129034-41129034
24 USP9X NM_001039591.3(USP9X):c.3797A>C (p.Lys1266Thr) SNV Likely benign 1013601 GRCh37: X:41047357-41047357
GRCh38: X:41188104-41188104
25 NTF4 NM_006179.4(NTF4):c.263C>T (p.Ala88Val) SNV Likely benign 14017 rs61732310 GRCh37: 19:49564992-49564992
GRCh38: 19:49061735-49061735
26 USP9X NM_001039591.3(USP9X):c.5671G>C (p.Asp1891His) SNV not provided 973055 GRCh37: X:41075491-41075491
GRCh38: X:41216238-41216238

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

72
# Symbol AA change Variation ID SNP ID
1 USP9X p.Leu2093His VAR_071131 rs587777317

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 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
Content
Loading form....