MRX93
MCID: NNS087
MIFTS: 17

Non-Syndromic X-Linked Intellectual Disability 93 (MRX93)

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

Aliases & Classifications for Non-Syndromic X-Linked Intellectual Disability 93

MalaCards integrated aliases for Non-Syndromic X-Linked Intellectual Disability 93:

Name: Non-Syndromic X-Linked Intellectual Disability 93 12
Mental Retardation, X-Linked, with Macrocephaly 6
X-Linked Mental Retardation with Macrocephaly 12
Mrx93 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112045

Summaries for Non-Syndromic X-Linked Intellectual Disability 93

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has material basis in hemizygous mutation in BRWD3 on chromosome Xq21.1.

MalaCards based summary : Non-Syndromic X-Linked Intellectual Disability 93, also known as mental retardation, x-linked, with macrocephaly, is related to atkin-flaitz syndrome and clark-baraitser syndrome. An important gene associated with Non-Syndromic X-Linked Intellectual Disability 93 is BRWD3 (Bromodomain And WD Repeat Domain Containing 3).

Related Diseases for Non-Syndromic X-Linked Intellectual Disability 93

Diseases in the Non-Syndromic X-Linked Intellectual Disability family:

Non-Syndromic X-Linked Intellectual Disability 2 Non-Syndromic X-Linked Intellectual Disability 19
Non-Syndromic X-Linked Intellectual Disability 20 Non-Syndromic X-Linked Intellectual Disability 58
Non-Syndromic X-Linked Intellectual Disability 14 Non-Syndromic X-Linked Intellectual Disability 45
Non-Syndromic X-Linked Intellectual Disability 84 Non-Syndromic X-Linked Intellectual Disability 89
Non-Syndromic X-Linked Intellectual Disability 81 Non-Syndromic X-Linked Intellectual Disability 9
Non-Syndromic X-Linked Intellectual Disability 1 Non-Syndromic X-Linked Intellectual Disability 77
Non-Syndromic X-Linked Intellectual Disability 90 Non-Syndromic X-Linked Intellectual Disability 91
Non-Syndromic X-Linked Intellectual Disability 93 Non-Syndromic X-Linked Intellectual Disability 63
Non-Syndromic X-Linked Intellectual Disability 30 Non-Syndromic X-Linked Intellectual Disability 82
Non-Syndromic X-Linked Intellectual Disability 88 Non-Syndromic X-Linked Intellectual Disability 46
Non-Syndromic X-Linked Intellectual Disability 41 Non-Syndromic X-Linked Intellectual Disability 72

Diseases related to Non-Syndromic X-Linked Intellectual Disability 93 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atkin-flaitz syndrome 10.2
2 clark-baraitser syndrome 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.0
4 overgrowth syndrome 10.0

Symptoms & Phenotypes for Non-Syndromic X-Linked Intellectual Disability 93

Drugs & Therapeutics for Non-Syndromic X-Linked Intellectual Disability 93

Search Clinical Trials , NIH Clinical Center for Non-Syndromic X-Linked Intellectual Disability 93

Genetic Tests for Non-Syndromic X-Linked Intellectual Disability 93

Anatomical Context for Non-Syndromic X-Linked Intellectual Disability 93

Publications for Non-Syndromic X-Linked Intellectual Disability 93

Articles related to Non-Syndromic X-Linked Intellectual Disability 93:

# Title Authors PMID Year
1
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. 6
17668385 2007
2
Pericentromeric genes for non-specific X-linked mental retardation (MRX). 6
7943039 1994
3
Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). 61
8826457 1996
4
Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. 61
7677138 1995

Variations for Non-Syndromic X-Linked Intellectual Disability 93

ClinVar genetic disease variations for Non-Syndromic X-Linked Intellectual Disability 93:

6 (show top 50) (show all 108)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRWD3 NM_153252.5(BRWD3):c.3325+1G>T SNV Pathogenic 10802 rs730882185 X:79947587-79947587 X:80692088-80692088
2 BRWD3 NM_153252.5(BRWD3):c.4786A>G (p.Lys1596Glu) SNV Pathogenic 10804 rs137853272 X:79932731-79932731 X:80677232-80677232
3 BRWD3 NM_153252.5(BRWD3):c.568C>T (p.Arg190Ter) SNV Pathogenic 374258 rs1057518650 X:80001091-80001091 X:80745592-80745592
4 BRWD3 NM_153252.5(BRWD3):c.946dup (p.Arg316fs) Duplication Pathogenic 10803 rs730882186 X:79990664-79990665 X:80735165-80735166
5 BRWD3 NM_153252.5(BRWD3):c.3198_3199TG[1] (p.Val1067fs) Microsatellite Pathogenic 623359 rs1602311804 X:79948501-79948502 X:80693002-80693003
6 BRWD3 NM_153252.5(BRWD3):c.4255T>G (p.Leu1419Val) SNV Likely pathogenic 216895 rs863224851 X:79938106-79938106 X:80682607-80682607
7 BRWD3 NM_153252.5(BRWD3):c.256G>A (p.Glu86Lys) SNV Likely pathogenic 626272 rs1569290395 X:80049196-80049196 X:80793697-80793697
8 BRWD3 NM_153252.5(BRWD3):c.*2710G>A SNV Uncertain significance 368707 rs898420202 X:79929398-79929398 X:80673899-80673899
9 BRWD3 NM_153252.5(BRWD3):c.*2329A>T SNV Uncertain significance 368710 rs1057516001 X:79929779-79929779 X:80674280-80674280
10 BRWD3 NM_153252.5(BRWD3):c.5236C>T (p.Arg1746Ter) SNV Uncertain significance 562018 rs868344048 X:79932281-79932281 X:80676782-80676782
11 BRWD3 NM_153252.5(BRWD3):c.*121C>G SNV Uncertain significance 368722 rs760166411 X:79931987-79931987 X:80676488-80676488
12 BRWD3 NM_153252.5(BRWD3):c.*6871G>T SNV Uncertain significance 368679 rs567910666 X:79925237-79925237 X:80669738-80669738
13 BRWD3 NM_153252.5(BRWD3):c.*4581C>T SNV Uncertain significance 368696 rs1057515996 X:79927527-79927527 X:80672028-80672028
14 BRWD3 NM_153252.5(BRWD3):c.*2626C>T SNV Uncertain significance 368708 rs1028184110 X:79929482-79929482 X:80673983-80673983
15 BRWD3 NM_153252.5(BRWD3):c.4263C>T (p.Ala1421=) SNV Uncertain significance 368724 rs749607717 X:79938098-79938098 X:80682599-80682599
16 BRWD3 NM_153252.5(BRWD3):c.*6439G>A SNV Uncertain significance 368682 rs375704347 X:79925669-79925669 X:80670170-80670170
17 BRWD3 NM_153252.5(BRWD3):c.*5790G>A SNV Uncertain significance 368688 rs759779733 X:79926318-79926318 X:80670819-80670819
18 BRWD3 NM_153252.5(BRWD3):c.814-8T>A SNV Uncertain significance 368728 rs1057516005 X:79991595-79991595 X:80736096-80736096
19 BRWD3 NM_153252.5(BRWD3):c.*1895C>G SNV Uncertain significance 368714 rs1057516002 X:79930213-79930213 X:80674714-80674714
20 BRWD3 NM_153252.5(BRWD3):c.*1473T>A SNV Uncertain significance 368717 rs756025042 X:79930635-79930635 X:80675136-80675136
21 BRWD3 NM_153252.5(BRWD3):c.*6957C>G SNV Uncertain significance 368677 rs1057515992 X:79925151-79925151 X:80669652-80669652
22 BRWD3 NM_153252.5(BRWD3):c.*6248A>G SNV Uncertain significance 368683 rs1057515993 X:79925860-79925860 X:80670361-80670361
23 BRWD3 NM_153252.5(BRWD3):c.*5514T>C SNV Uncertain significance 368689 rs1057515995 X:79926594-79926594 X:80671095-80671095
24 BRWD3 NM_153252.5(BRWD3):c.*2594T>C SNV Uncertain significance 368709 rs1057516000 X:79929514-79929514 X:80674015-80674015
25 BRWD3 NM_153252.5(BRWD3):c.*2154A>G SNV Uncertain significance 368712 rs184067970 X:79929954-79929954 X:80674455-80674455
26 BRWD3 NM_153252.5(BRWD3):c.*1703T>C SNV Uncertain significance 368715 rs1057516003 X:79930405-79930405 X:80674906-80674906
27 BRWD3 NM_153252.5(BRWD3):c.*3083G>T SNV Uncertain significance 368703 rs987452216 X:79929025-79929025 X:80673526-80673526
28 BRWD3 NM_153252.5(BRWD3):c.*6197T>C SNV Uncertain significance 368684 rs1057515994 X:79925911-79925911 X:80670412-80670412
29 BRWD3 NM_153252.5(BRWD3):c.*2877G>A SNV Uncertain significance 368704 rs187241080 X:79929231-79929231 X:80673732-80673732
30 BRWD3 NM_153252.5(BRWD3):c.*5142A>G SNV Uncertain significance 912701 X:79926966-79926966 X:80671467-80671467
31 BRWD3 NM_153252.5(BRWD3):c.*4661A>G SNV Uncertain significance 912702 X:79927447-79927447 X:80671948-80671948
32 BRWD3 NM_153252.5(BRWD3):c.*1820G>C SNV Uncertain significance 912751 X:79930288-79930288 X:80674789-80674789
33 BRWD3 NM_153252.5(BRWD3):c.*1394G>C SNV Uncertain significance 912752 X:79930714-79930714 X:80675215-80675215
34 BRWD3 NM_153252.5(BRWD3):c.2026G>A (p.Ala676Thr) SNV Uncertain significance 912796 X:79975006-79975006 X:80719507-80719507
35 BRWD3 NM_153252.5(BRWD3):c.1384T>C (p.Ser462Pro) SNV Uncertain significance 912797 X:79984253-79984253 X:80728754-80728754
36 BRWD3 NM_153252.5(BRWD3):c.-267C>T SNV Uncertain significance 913160 X:80065237-80065237 X:80809738-80809738
37 BRWD3 NM_153252.5(BRWD3):c.*4139T>C SNV Uncertain significance 913807 X:79927969-79927969 X:80672470-80672470
38 BRWD3 NM_153252.5(BRWD3):c.*3738A>G SNV Uncertain significance 913808 X:79928370-79928370 X:80672871-80672871
39 BRWD3 NM_153252.5(BRWD3):c.*3594T>C SNV Uncertain significance 913809 X:79928514-79928514 X:80673015-80673015
40 BRWD3 NM_153252.5(BRWD3):c.*6692A>G SNV Uncertain significance 914164 X:79925416-79925416 X:80669917-80669917
41 BRWD3 NM_153252.5(BRWD3):c.*6451T>C SNV Uncertain significance 914165 X:79925657-79925657 X:80670158-80670158
42 BRWD3 NM_153252.5(BRWD3):c.637C>T (p.Arg213Cys) SNV Uncertain significance 912799 X:79999707-79999707 X:80744208-80744208
43 BRWD3 NM_153252.5(BRWD3):c.*847G>A SNV Uncertain significance 913112 X:79931261-79931261 X:80675762-80675762
44 BRWD3 NM_153252.5(BRWD3):c.*802A>G SNV Uncertain significance 913113 X:79931306-79931306 X:80675807-80675807
45 BRWD3 NM_153252.5(BRWD3):c.*248C>T SNV Uncertain significance 913116 X:79931860-79931860 X:80676361-80676361
46 BRWD3 NM_153252.5(BRWD3):c.96A>G (p.Leu32=) SNV Uncertain significance 913158 X:80064536-80064536 X:80809037-80809037
47 BRWD3 NM_153252.5(BRWD3):c.*3377T>G SNV Uncertain significance 914213 X:79928731-79928731 X:80673232-80673232
48 BRWD3 NM_153252.5(BRWD3):c.*3293C>A SNV Uncertain significance 914214 X:79928815-79928815 X:80673316-80673316
49 BRWD3 NM_153252.5(BRWD3):c.*3252T>C SNV Uncertain significance 914215 X:79928856-79928856 X:80673357-80673357
50 BRWD3 NM_153252.5(BRWD3):c.*2875A>G SNV Uncertain significance 914216 X:79929233-79929233 X:80673734-80673734

Expression for Non-Syndromic X-Linked Intellectual Disability 93

Search GEO for disease gene expression data for Non-Syndromic X-Linked Intellectual Disability 93.

Pathways for Non-Syndromic X-Linked Intellectual Disability 93

GO Terms for Non-Syndromic X-Linked Intellectual Disability 93

Sources for Non-Syndromic X-Linked Intellectual Disability 93

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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44 MeSH
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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