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

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Aliases & Descriptions for Macrothrombocytopenia and Progressive Sensorineural Deafness:

Name: Macrothrombocytopenia and Progressive Sensorineural Deafness 51 69 26 12
 
Mpsd 69

Characteristics:

HPO:

63
macrothrombocytopenia and progressive sensorineural deafness:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 600208
MedGen36 C1834478

Summaries for Macrothrombocytopenia and Progressive Sensorineural Deafness

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UniProtKB/Swiss-Prot:69 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:51 600208

Related Diseases for Macrothrombocytopenia and Progressive Sensorineural Deafness

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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 for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Symptoms by clinical synopsis from OMIM:

600208

Clinical features from OMIM:

600208

Human phenotypes related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

 63 (show all 8)
id Description HPO Frequency HPO Source Accession
1 abnormality of the urinary system63 HP:0000079
2 progressive sensorineural hearing impairment63 HP:0000408
3 abnormality of the eye63 HP:0000478
4 bruising susceptibility63 HP:0000978
5 thrombocytopenia63 HP:0001873
6 abnormal bleeding63 HP:0001892
7 giant platelets63 HP:0001902
8 prolonged bleeding time63 HP:0003010

Drugs & Therapeutics for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Interventional clinical trials:

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

Genetic Tests for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Genetic tests related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

id Genetic test Affiliating Genes
1 Macrothrombocytopenia and Progressive Sensorineural Deafness26

Anatomical Context for Macrothrombocytopenia and Progressive Sensorineural Deafness

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

35
Eye

Animal Models for Macrothrombocytopenia and Progressive Sensorineural Deafness or affiliated genes

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Publications for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Variations for Macrothrombocytopenia and Progressive Sensorineural Deafness

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

69
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

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

Pathways for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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GO Terms for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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Sources for Macrothrombocytopenia and Progressive Sensorineural Deafness

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet