MCID: MCR139
MIFTS: 20

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 50 68 25 12
 
Mpsd 68

Characteristics:

HPO:

62
macrothrombocytopenia and progressive sensorineural deafness:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 600208
MedGen35 C1834478

Summaries for Macrothrombocytopenia and Progressive Sensorineural Deafness

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UniProtKB/Swiss-Prot:68 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:50 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 deafness11.2
2fechtner syndrome10.1
3sebastian syndrome10.1
4epstein syndrome10.1

Symptoms for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Symptoms by clinical synopsis from OMIM:

600208

Clinical features from OMIM:

600208

HPO human phenotypes related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

(show all 8)
id Description Frequency HPO Source Accession
1 abnormality of the urinary system HP:0000079
2 progressive sensorineural hearing impairment HP:0000408
3 abnormality of the eye HP:0000478
4 bruising susceptibility HP:0000978
5 thrombocytopenia HP:0001873
6 abnormal bleeding HP:0001892
7 giant platelets HP:0001902
8 prolonged bleeding time 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 Deafness25

Anatomical Context for Macrothrombocytopenia and Progressive Sensorineural Deafness

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

34
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:

68
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)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
2MYH9MYH9, 18-BP DEL, NT228deletionPathogenic

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet