MRXSBA
MCID: BSL048
MIFTS: 15

Basilicata-Akhtar Syndrome (MRXSBA)

Categories: Bone diseases, Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Basilicata-Akhtar Syndrome

MalaCards integrated aliases for Basilicata-Akhtar Syndrome:

Name: Basilicata-Akhtar Syndrome 56 6
Mrxs36 56 73
Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type 56
Mental Retardation, X-Linked, Syndromic 36; Mrxs36 56
Mental Retardation, X-Linked, Syndromic, 36 73
Mental Retardation, X-Linked, Syndromic 36 56
Mrxsba 56

Classifications:



External Ids:

OMIM 56 301032
OMIM Phenotypic Series 56 PS309510
MeSH 43 D038901
MedGen 41 CN262328

Summaries for Basilicata-Akhtar Syndrome

OMIM : 56 Basilicata-Akhtar syndrome (MRXSBA) is characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech. Most patients are able to walk, although they may have an unsteady gait or spasticity. Additional findings include dysmorphic facial features and mild distal skeletal anomalies. Males and females are similarly affected (summary by Basilicata et al., 2018). (301032)

MalaCards based summary : Basilicata-Akhtar Syndrome, is also known as mrxs36. An important gene associated with Basilicata-Akhtar Syndrome is MSL3 (MSL Complex Subunit 3). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 73 Mental retardation, X-linked, syndromic, 36: A mental retardation syndrome characterized by global developmental delay, progressive gait disturbance, poor or absent speech, facial dysmorphism, and mild distal skeletal anomalies. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Related Diseases for Basilicata-Akhtar Syndrome

Symptoms & Phenotypes for Basilicata-Akhtar Syndrome

Clinical features from OMIM:

301032

Drugs & Therapeutics for Basilicata-Akhtar Syndrome

Search Clinical Trials , NIH Clinical Center for Basilicata-Akhtar Syndrome

Genetic Tests for Basilicata-Akhtar Syndrome

Anatomical Context for Basilicata-Akhtar Syndrome

MalaCards organs/tissues related to Basilicata-Akhtar Syndrome:

40
Bone

Publications for Basilicata-Akhtar Syndrome

Articles related to Basilicata-Akhtar Syndrome:

# Title Authors PMID Year
1
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. 56 6
30224647 2018

Variations for Basilicata-Akhtar Syndrome

ClinVar genetic disease variations for Basilicata-Akhtar Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MSL3 NM_078629.4(MSL3):c.923T>C (p.Leu308Pro)SNV Likely pathogenic 487567 rs1555906707 X:11783600-11783600 X:11765481-11765481
2 MSL3 NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter)SNV Likely pathogenic 487566 rs1555906768 X:11783713-11783713 X:11765594-11765594
3 MSL3 NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter)SNV Likely pathogenic 487568 rs1555907620 X:11790365-11790365 X:11772246-11772246
4 MSL3 NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs)deletion Likely pathogenic 487565 rs1555907623 X:11790366-11790373 X:11772247-11772254
5 MSL3 NM_078629.4(MSL3):c.1381+1G>TSNV Likely pathogenic 487564 rs1555907626 X:11790375-11790375 X:11772256-11772256
6 MSL3 NM_078629.4(MSL3):c.1466+1G>ASNV Likely pathogenic 807631 X:11790825-11790825 X:11772706-11772706

Expression for Basilicata-Akhtar Syndrome

Search GEO for disease gene expression data for Basilicata-Akhtar Syndrome.

Pathways for Basilicata-Akhtar Syndrome

GO Terms for Basilicata-Akhtar Syndrome

Sources for Basilicata-Akhtar Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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