MPSD
MCID: MCR139
MIFTS: 19

Macrothrombocytopenia and Progressive Sensorineural Deafness (MPSD) malady

Categories: Genetic diseases, Ear diseases, Blood diseases

Aliases & Classifications for Macrothrombocytopenia and Progressive Sensorineural Deafness

Aliases & Descriptions for Macrothrombocytopenia and Progressive Sensorineural Deafness:

Name: Macrothrombocytopenia and Progressive Sensorineural Deafness 54 66 29 13
Mpsd 66

Characteristics:

HPO:

32
macrothrombocytopenia and progressive sensorineural deafness:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 600208
MedGen 40 C1834478

Summaries for Macrothrombocytopenia and Progressive Sensorineural Deafness

UniProtKB/Swiss-Prot : 66 Macrothrombocytopenia and progressive sensorineural deafness: An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction.

MalaCards based summary : Macrothrombocytopenia and Progressive Sensorineural Deafness, also known as mpsd, is related to macrothrombocytopenia progressive deafness and fechtner syndrome, and has symptoms including abnormality of the eye, bruising susceptibility and prolonged bleeding time. An important gene associated with Macrothrombocytopenia and Progressive Sensorineural Deafness is MYH9 (Myosin Heavy Chain 9). Affiliated tissues include eye.

Description from OMIM: 600208

Related Diseases for Macrothrombocytopenia and Progressive Sensorineural Deafness

Diseases related to Macrothrombocytopenia and Progressive Sensorineural Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 macrothrombocytopenia progressive deafness 11.1
2 fechtner syndrome 11.0
3 sebastian syndrome 11.0
4 epstein syndrome 11.0

Symptoms & Phenotypes for Macrothrombocytopenia and Progressive Sensorineural Deafness

Symptoms by clinical synopsis from OMIM:

600208

Clinical features from OMIM:

600208

Human phenotypes related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 abnormality of the eye 32 HP:0000478
2 bruising susceptibility 32 HP:0000978
3 prolonged bleeding time 32 HP:0003010
4 abnormality of the urinary system 32 HP:0000079
5 progressive sensorineural hearing impairment 32 HP:0000408
6 giant platelets 32 HP:0001902
7 macrothrombocytopenia 32 HP:0040185

Drugs & Therapeutics for Macrothrombocytopenia and Progressive Sensorineural Deafness

Search Clinical Trials , NIH Clinical Center for Macrothrombocytopenia and Progressive Sensorineural Deafness

Genetic Tests for Macrothrombocytopenia and Progressive Sensorineural Deafness

Genetic tests related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

id Genetic test Affiliating Genes
1 Macrothrombocytopenia and Progressive Sensorineural Deafness 29

Anatomical Context for Macrothrombocytopenia and Progressive Sensorineural Deafness

MalaCards organs/tissues related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

39
Eye

Publications for Macrothrombocytopenia and Progressive Sensorineural Deafness

Variations for Macrothrombocytopenia and Progressive Sensorineural Deafness

UniProtKB/Swiss-Prot genetic disease variations for Macrothrombocytopenia and Progressive Sensorineural Deafness:

66
id Symbol AA change Variation ID SNP ID
1 MYH9 p.Asp1424Asn VAR_018316 rs80338831

ClinVar genetic disease variations for Macrothrombocytopenia and Progressive Sensorineural Deafness:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYH9 NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
2 MYH9 MYH9, 18-BP DEL, NT228 deletion Pathogenic

Expression for Macrothrombocytopenia and Progressive Sensorineural Deafness

Search GEO for disease gene expression data for Macrothrombocytopenia and Progressive Sensorineural Deafness.

Pathways for Macrothrombocytopenia and Progressive Sensorineural Deafness

GO Terms for Macrothrombocytopenia and Progressive Sensorineural Deafness

Sources for Macrothrombocytopenia and Progressive Sensorineural Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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