MCID: MCR139
MIFTS: 19

Macrothrombocytopenia and Progressive Sensorineural Deafness malady

Categories: Genetic diseases (common), Ear diseases, Blood diseases

Aliases & Classifications for Macrothrombocytopenia and Progressive Sensorineural Deafness

About this section

Aliases & Descriptions for Macrothrombocytopenia and Progressive Sensorineural Deafness:

Name: Macrothrombocytopenia and Progressive Sensorineural Deafness 52 70 27 12
 
Mpsd 70

Characteristics:

HPO:

64
macrothrombocytopenia and progressive sensorineural deafness:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 600208
MedGen37 C1834478

Summaries for Macrothrombocytopenia and Progressive Sensorineural Deafness

About this section
UniProtKB/Swiss-Prot:70 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 urinary system, progressive sensorineural hearing impairment and abnormality of the eye. An important gene associated with Macrothrombocytopenia and Progressive Sensorineural Deafness is MYH9 (Myosin Heavy Chain 9). Affiliated tissues include eye.

Description from OMIM:52 600208

Related Diseases for Macrothrombocytopenia and Progressive Sensorineural Deafness

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1macrothrombocytopenia progressive deafness11.1
2fechtner syndrome11.0
3sebastian syndrome11.0
4epstein syndrome11.0

Symptoms & Phenotypes for Macrothrombocytopenia and Progressive Sensorineural Deafness

About this section

Symptoms by clinical synopsis from OMIM:

600208

Clinical features from OMIM:

600208

Human phenotypes related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 abnormality of the urinary system64 HP:0000079
2 progressive sensorineural hearing impairment64 HP:0000408
3 abnormality of the eye64 HP:0000478
4 bruising susceptibility64 HP:0000978
5 thrombocytopenia64 HP:0001873
6 abnormal bleeding64 HP:0001892
7 giant platelets64 HP:0001902
8 prolonged bleeding time64 HP:0003010

Drugs & Therapeutics for Macrothrombocytopenia and Progressive Sensorineural Deafness

About this section

Interventional clinical trials:

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

Genetic Tests for Macrothrombocytopenia and Progressive Sensorineural Deafness

About this section

Genetic tests related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

id Genetic test Affiliating Genes
1 Macrothrombocytopenia and Progressive Sensorineural Deafness27

Anatomical Context for Macrothrombocytopenia and Progressive Sensorineural Deafness

About this section

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

36
Eye

Publications for Macrothrombocytopenia and Progressive Sensorineural Deafness

About this section

Variations for Macrothrombocytopenia and Progressive Sensorineural Deafness

About this section

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

70
id Symbol AA change Variation ID SNP ID
1MYH9p.Asp1424AsnVAR_018316rs80338831

Clinvar genetic disease variations for Macrothrombocytopenia and Progressive Sensorineural Deafness:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn)SNVPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
2MYH9MYH9, 18-BP DEL, NT228deletionPathogenicChr na, -1: -1

Expression for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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

Pathways for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

About this section

GO Terms for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

About this section

Sources for Macrothrombocytopenia and Progressive Sensorineural Deafness

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet