MRX97
MCID: MNT200
MIFTS: 24

Mental Retardation, X-Linked 97 (MRX97)

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

Aliases & Classifications for Mental Retardation, X-Linked 97

MalaCards integrated aliases for Mental Retardation, X-Linked 97:

Name: Mental Retardation, X-Linked 97 57 72 13 6
Mrx97 57 12 72
Mrx65 57 12 72
Mrxz 57 12 72
Mental Retardation, X-Linked 65 57 72
Non-Syndromic X-Linked Intellectual Disability 97 12
Mental Retardation, X-Linked, Znf711-Related 70
Mental Retardation, X-Linked 65; Mrx65 57
Mental Retardation, X-Linked, Type 97 39
X-Linked Mental Retardation 65 12
X-Linked Mental Retardation 97 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked


HPO:

31
mental retardation, x-linked 97:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112046
OMIM® 57 300803
OMIM Phenotypic Series 57 PS309530
MeSH 44 D038901
MedGen 41 C2749020
UMLS 70 C2749020

Summaries for Mental Retardation, X-Linked 97

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked 97: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, X-Linked 97, also known as mrx97, is related to non-syndromic x-linked intellectual disability. An important gene associated with Mental Retardation, X-Linked 97 is ZNF711 (Zinc Finger Protein 711). Related phenotypes are intellectual disability and macrotia

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has material basis in mutation in ZNF711 on chromosome Xq21.1.

More information from OMIM: 300803 PS309530

Related Diseases for Mental Retardation, X-Linked 97

Symptoms & Phenotypes for Mental Retardation, X-Linked 97

Human phenotypes related to Mental Retardation, X-Linked 97:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 macrotia 31 HP:0000400
3 delayed speech and language development 31 HP:0000750
4 obesity 31 HP:0001513
5 motor delay 31 HP:0001270
6 long face 31 HP:0000276
7 intellectual disability, moderate 31 HP:0002342
8 synophrys 31 HP:0000664
9 broad face 31 HP:0000283

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
motor delay
speech delay
mental retardation, moderate

Head And Neck Eyes:
synophrys

Growth Weight:
obesity (1 family)

Head And Neck Face:
long face
broad face

Head And Neck Ears:
large ears

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Clinical features from OMIM®:

300803 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, X-Linked 97

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 97

Genetic Tests for Mental Retardation, X-Linked 97

Anatomical Context for Mental Retardation, X-Linked 97

Publications for Mental Retardation, X-Linked 97

Articles related to Mental Retardation, X-Linked 97:

# Title Authors PMID Year
1
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region. 6 57 61
10398247 1999
2
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. 6 57
27993705 2017
3
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 57 6
19377476 2009

Variations for Mental Retardation, X-Linked 97

ClinVar genetic disease variations for Mental Retardation, X-Linked 97:

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZNF711 NM_021998.5(ZNF711):c.1573A>T (p.Arg525Ter) SNV Pathogenic 9763 rs199422240 GRCh37: X:84526121-84526121
GRCh38: X:85271115-85271115
2 ZNF711 NM_001330574.2(ZNF711):c.2263_2264TG[1] (p.Cys755_Glu756delinsTer) Microsatellite Pathogenic 9762 rs1603009115 GRCh37: X:84526673-84526674
GRCh38: X:85271667-85271668
3 ZNF711 NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr) SNV Pathogenic 417762 rs1060505033 GRCh37: X:84519389-84519389
GRCh38: X:85264383-85264383
4 ZNF711 NM_001330574.2(ZNF711):c.1068_1069del (p.Arg356fs) Microsatellite Pathogenic 1028742 GRCh37: X:84523311-84523312
GRCh38: X:85268305-85268306
5 ZNF711 NM_021998.5(ZNF711):c.2054del (p.Phe685fs) Deletion Pathogenic 417761 rs1060505032 GRCh37: X:84526601-84526601
GRCh38: X:85271595-85271595
6 ZNF711 NM_001330574.2(ZNF711):c.97dup (p.Thr33fs) Duplication Likely pathogenic 450911 rs1555970404 GRCh37: X:84510281-84510282
GRCh38: X:85255275-85255276
7 ZNF711 NM_001330574.2(ZNF711):c.1377dup (p.Tyr460fs) Duplication Likely pathogenic 495110 rs1555974716 GRCh37: X:84525780-84525781
GRCh38: X:85270774-85270775
8 ZNF711 NM_001330574.2(ZNF711):c.2173A>G (p.Lys725Glu) SNV Uncertain significance 975863 GRCh37: X:84526583-84526583
GRCh38: X:85271577-85271577
9 ZNF711 NM_001330574.2(ZNF711):c.*169C>T SNV Uncertain significance 913215 GRCh37: X:84527003-84527003
GRCh38: X:85271997-85271997
10 ZNF711 NM_001330574.2(ZNF711):c.*524C>T SNV Uncertain significance 914339 GRCh37: X:84527358-84527358
GRCh38: X:85272352-85272352
11 ZNF711 NM_001330574.2(ZNF711):c.*965T>A SNV Uncertain significance 914340 GRCh37: X:84527799-84527799
GRCh38: X:85272793-85272793
12 ZNF711 NM_001330574.2(ZNF711):c.-316T>A SNV Uncertain significance 368744 rs760150680 GRCh37: X:84500998-84500998
GRCh38: X:85245992-85245992
13 ZNF711 NM_021998.5(ZNF711):c.2072T>G (p.Leu691Arg) SNV Uncertain significance 523043 rs1555975302 GRCh37: X:84526620-84526620
GRCh38: X:85271614-85271614
14 ZNF711 NM_021998.5(ZNF711):c.326G>C (p.Gly109Ala) SNV Uncertain significance 592139 rs769223012 GRCh37: X:84510511-84510511
GRCh38: X:85255505-85255505
15 ZNF711 NM_001330574.2(ZNF711):c.1073C>G (p.Ser358Cys) SNV Uncertain significance 912842 GRCh37: X:84523318-84523318
GRCh38: X:85268312-85268312
16 ZNF711 NM_001330574.2(ZNF711):c.1773A>G (p.Gln591=) SNV Uncertain significance 912843 GRCh37: X:84526183-84526183
GRCh38: X:85271177-85271177
17 ZNF711 NM_001330574.2(ZNF711):c.1926C>A (p.Asp642Glu) SNV Uncertain significance 912844 GRCh37: X:84526336-84526336
GRCh38: X:85271330-85271330
18 ZNF711 NM_001330574.2(ZNF711):c.*540T>C SNV Uncertain significance 368754 rs761918833 GRCh37: X:84527374-84527374
GRCh38: X:85272368-85272368
19 ZNF711 NM_001330574.2(ZNF711):c.*118C>T SNV Uncertain significance 368749 rs907642064 GRCh37: X:84526952-84526952
GRCh38: X:85271946-85271946
20 ZNF711 NM_001330574.2(ZNF711):c.*188A>G SNV Uncertain significance 368752 rs1057516016 GRCh37: X:84527022-84527022
GRCh38: X:85272016-85272016
21 ZNF711 NM_001330574.2(ZNF711):c.-350G>T SNV Uncertain significance 368743 rs1057516013 GRCh37: X:84500964-84500964
GRCh38: X:85245958-85245958
22 ZNF711 NM_001330574.2(ZNF711):c.2162C>T (p.Pro721Leu) SNV Uncertain significance 368747 rs1057516014 GRCh37: X:84526572-84526572
GRCh38: X:85271566-85271566
23 ZNF711 NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn) SNV Uncertain significance 1028239 GRCh37: X:84526292-84526292
GRCh38: X:85271286-85271286
24 ZNF711 NM_001330574.2(ZNF711):c.1940A>G (p.Asn647Ser) SNV Uncertain significance 449777 rs760346140 GRCh37: X:84526350-84526350
GRCh38: X:85271344-85271344
25 ZNF711 NM_001330574.2(ZNF711):c.*763G>A SNV Uncertain significance 368756 rs779266566 GRCh37: X:84527597-84527597
GRCh38: X:85272591-85272591
26 ZNF711 NM_001330574.2(ZNF711):c.569ATG[5] (p.Asp195del) Microsatellite Uncertain significance 930485 GRCh37: X:84510753-84510755
GRCh38: X:85255747-85255749
27 ZNF711 NM_001330574.2(ZNF711):c.1464C>T (p.Val488=) SNV Likely benign 130850 rs140843429 GRCh37: X:84525874-84525874
GRCh38: X:85270868-85270868
28 ZNF711 NM_001330574.2(ZNF711):c.2106A>G (p.Thr702=) SNV Benign 368746 rs138675194 GRCh37: X:84526516-84526516
GRCh38: X:85271510-85271510
29 ZNF711 NM_001330574.2(ZNF711):c.798A>G (p.Thr266=) SNV Benign 130851 rs72549428 GRCh37: X:84520143-84520143
GRCh38: X:85265137-85265137
30 ZNF711 NM_001330574.2(ZNF711):c.*153A>G SNV Benign 368751 rs2343388 GRCh37: X:84526987-84526987
GRCh38: X:85271981-85271981
31 POF1B , ZNF711 NM_001330574.2(ZNF711):c.*632A>G SNV Benign 368755 rs6653049 GRCh37: X:84527466-84527466
GRCh38: X:85272460-85272460
32 POF1B , ZNF711 NM_001330574.2(ZNF711):c.*1260G>A SNV Benign 368757 rs73234669 GRCh37: X:84528094-84528094
GRCh38: X:85273088-85273088
33 POF1B , ZNF711 NM_001330574.2(ZNF711):c.*1411G>A SNV Benign 368758 rs779890560 GRCh37: X:84528245-84528245
GRCh38: X:85273239-85273239
34 ZNF711 NM_001330574.2(ZNF711):c.-297A>T SNV Benign 914804 GRCh37: X:84501017-84501017
GRCh38: X:85246011-85246011
35 ZNF711 NM_001330574.2(ZNF711):c.-286+5C>T SNV Benign 130847 rs41311563 GRCh37: X:84501033-84501033
GRCh38: X:85246027-85246027
36 ZNF711 NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr) SNV Benign 212693 rs145361311 GRCh37: X:84520174-84520174
GRCh38: X:85265168-85265168
37 ZNF711 NM_001330574.2(ZNF711):c.*122G>T SNV Benign 368750 rs755444976 GRCh37: X:84526956-84526956
GRCh38: X:85271950-85271950
38 ZNF711 NM_001330574.2(ZNF711):c.*272G>A SNV Benign 368753 rs187954106 GRCh37: X:84527106-84527106
GRCh38: X:85272100-85272100
39 ZNF711 NM_001330574.2(ZNF711):c.-449A>G SNV Benign 368741 rs375972814 GRCh37: X:84499154-84499154
GRCh38: X:85244148-85244148
40 ZNF711 NM_001330574.2(ZNF711):c.2109C>T (p.Ser703=) SNV Benign 913214 GRCh37: X:84526519-84526519
GRCh38: X:85271513-85271513
41 ZNF711 NM_001330574.2(ZNF711):c.1368G>A (p.Met456Ile) SNV Benign 368745 rs200444579 GRCh37: X:84525778-84525778
GRCh38: X:85270772-85270772
42 ZNF711 NM_001330574.2(ZNF711):c.*47A>G SNV Benign 368748 rs755503652 GRCh37: X:84526881-84526881
GRCh38: X:85271875-85271875

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 97:

72
# Symbol AA change Variation ID SNP ID
1 ZNF711 p.Ile244Thr VAR_078572 rs106050503

Expression for Mental Retardation, X-Linked 97

Search GEO for disease gene expression data for Mental Retardation, X-Linked 97.

Pathways for Mental Retardation, X-Linked 97

GO Terms for Mental Retardation, X-Linked 97

Sources for Mental Retardation, X-Linked 97

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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50 NCIt
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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