MCID: MCR139
MIFTS: 17

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 49 11 67 24
 
Mpsd 67

Characteristics:

HPO:

61
macrothrombocytopenia and progressive sensorineural deafness:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 600208
MedGen34 C1834478

Summaries for Macrothrombocytopenia and Progressive Sensorineural Deafness

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UniProtKB/Swiss-Prot:67 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 prolonged bleeding time, giant platelets and abnormal bleeding. An important gene associated with Macrothrombocytopenia and Progressive Sensorineural Deafness is MYH9 (Myosin, Heavy Chain 9, Non-Muscle). Affiliated tissues include eye.

Description from OMIM:49 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 syndrome10.2
3sebastian syndrome10.2
4epstein syndrome10.2

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 prolonged bleeding time HP:0003010
2 giant platelets HP:0001902
3 abnormal bleeding HP:0001892
4 thrombocytopenia HP:0001873
5 bruising susceptibility HP:0000978
6 abnormality of the eye HP:0000478
7 progressive sensorineural hearing impairment HP:0000408
8 abnormality of the urinary system HP:0000079

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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Anatomical Context for Macrothrombocytopenia and Progressive Sensorineural Deafness

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1MYH9p.Asp1424AsnVAR_018316

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet