MCID: MCR139
MIFTS: 16

Macrothrombocytopenia and Progressive Sensorineural Deafness malady

Genetic diseases (common), Ear diseases, Blood diseases categories

Summaries for Macrothrombocytopenia and Progressive Sensorineural Deafness

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MalaCards based summary: Macrothrombocytopenia and Progressive Sensorineural Deafness is related to fechtner syndrome and sebastian syndrome, and has symptoms including autosomal dominant inheritance, abnormality of the urinary system and progressive sensorineural hearing impairment. 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:45 600208

Aliases & Classifications for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Macrothrombocytopenia and Progressive Sensorineural Deafness, Aliases & Descriptions:

Name: Macrothrombocytopenia and Progressive Sensorineural Deafness 45 10 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Ear diseases, Blood diseases


External Ids:

OMIM45 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
1fechtner syndrome10.4
2sebastian syndrome10.4
3epstein syndrome10.4
4macrothrombocytopenia progressive deafness10.4

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 9)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of the urinary system HP:0000079
3 progressive sensorineural hearing impairment HP:0000408
4 abnormality of the eye HP:0000478
5 bruising susceptibility HP:0000978
6 thrombocytopenia HP:0001873
7 abnormal bleeding HP:0001892
8 giant platelets HP:0001902
9 prolonged bleeding time HP:0003010

Drugs & Therapeutics for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Drug clinical trials:

Search ClinicalTrials for Macrothrombocytopenia and Progressive Sensorineural Deafness

Search 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 Deafness22

Anatomical Context for Macrothrombocytopenia and Progressive Sensorineural Deafness

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

31
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:

62
id Symbol AA change Variation ID SNP ID
1MYH9p.Asp1424AsnVAR_018316

Clinvar genetic disease variations for Macrothrombocytopenia and Progressive Sensorineural Deafness:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.4(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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Compounds 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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Products for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Macrothrombocytopenia and Progressive Sensorineural Deafness

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet