MCID: MYH004
MIFTS: 22

Myh9 Related Thrombocytopenia malady

Genetic diseases, Rare diseases, Blood diseases, Immune diseases categories

Aliases & Classifications for Myh9 Related Thrombocytopenia

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Aliases & Descriptions for Myh9 Related Thrombocytopenia:

Name: Myh9 Related Thrombocytopenia 42
Myh9-Related Disorder 21 22
Sebastian Syndrome 42 61
Fechtner Syndrome 42 61
Epstein Syndrome 42 61
Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia 42
Macrothrombocytopenia with Leukocyte Inclusions 42
Alport Syndrome with Macrothrombocytopenia 42
Autosomal Dominant Myh9 Spectrum Disorders 21
 
Myh9-Related Macrothrombocytopenias 21
May-Hegglin Thrombocytopenia 42
Sebastian Platelet Syndrome 42
Myh9 Related Disorders 42
May-Hegglin Syndrome 42
May-Hegglin Anomaly 42
Myh9rd 21
Mha 42


Classifications:



Summaries for Myh9 Related Thrombocytopenia

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NIH Rare Diseases:42 Myh9-related thrombocytopenia (myh9rd) is a genetic condition caused by mutations in the myh9 gene and is characterized by large platelets and thrombocytopenia (low number of platelets) which increases the risk for mild to serious bleeding in the body or in the skin. young-adult onset high frequency sensorineural hearing loss, presenile (early) cataract, and kidney disease also variably occurs in people with this condition. this condition is inherited in an autosomal dominant fashion.   the following conditions, once thought to be separate, are now known to be part of myh9rd. epstein syndromefechtner syndrome may-hegglin anomalysebastian syndrome last updated: 1/22/2014

MalaCards based summary: Myh9 Related Thrombocytopenia, also known as myh9-related disorder, is related to may-hegglin anomaly and sebastian syndrome. An important gene associated with Myh9 Related Thrombocytopenia is MYH9 (myosin, heavy chain 9, non-muscle). Affiliated tissues include kidney, eye and skin.

Genetics Home Reference:21 MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).

Related Diseases for Myh9 Related Thrombocytopenia

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Graphical network of diseases related to Myh9 Related Thrombocytopenia:



Diseases related to myh9 related thrombocytopenia

Symptoms for Myh9 Related Thrombocytopenia

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Drugs & Therapeutics for Myh9 Related Thrombocytopenia

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Drug clinical trials:

Search ClinicalTrials for Myh9 Related Thrombocytopenia

Search NIH Clinical Center for Myh9 Related Thrombocytopenia

Genetic Tests for Myh9 Related Thrombocytopenia

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Genetic tests related to Myh9 Related Thrombocytopenia:

id Genetic test Affiliating Genes
1 Myh9 Related Disorders22

Anatomical Context for Myh9 Related Thrombocytopenia

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MalaCards organs/tissues related to Myh9 Related Thrombocytopenia:

31
Kidney, Eye, Skin

Animal Models for Myh9 Related Thrombocytopenia or affiliated genes

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Publications for Myh9 Related Thrombocytopenia

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Variations for Myh9 Related Thrombocytopenia

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Clinvar genetic disease variations for Myh9 Related Thrombocytopenia:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.4(MYH9): c.5797C> T (p.Arg1933Ter)single nucleotide variantPathogenicrs80338835GRCh37Chr 22, 36678800: 36678800
2MYH9NM_002473.4(MYH9): c.5521G> A (p.Glu1841Lys)single nucleotide variantPathogenicrs80338834GRCh37Chr 22, 36680520: 36680520
3MYH9NM_002473.4(MYH9): c.3493C> T (p.Arg1165Cys)single nucleotide variantPathogenicrs80338829GRCh37Chr 22, 36691115: 36691115
4MYH9NM_002473.4(MYH9): c.279C> G (p.Asn93Lys)single nucleotide variantPathogenicrs121913655GRCh37Chr 22, 36745003: 36745003
5MYH9NM_002473.4(MYH9): c.4270G> C (p.Asp1424His)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
6MYH9NM_002473.4(MYH9): c.3464C> T (p.Thr1155Ile)single nucleotide variantPathogenicrs121913656GRCh37Chr 22, 36691572: 36691572
7MYH9NM_002473.4(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
8MYH9NM_002473.4(MYH9): c.2114G> A (p.Arg705His)single nucleotide variantPathogenicrs80338828GRCh37Chr 22, 36702021: 36702021
9MYH9NM_002473.4(MYH9): c.2105G> A (p.Arg702His)single nucleotide variantPathogenicrs80338827GRCh37Chr 22, 36702030: 36702030
10MYH9NM_002473.4(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
11MYH9NM_002473.4(MYH9): c.287C> T (p.Ser96Leu)single nucleotide variantPathogenicrs121913657GRCh37Chr 22, 36744995: 36744995
12MYH9NM_002473.4(MYH9): c.3494G> T (p.Arg1165Leu)single nucleotide variantPathogenicrs80338830GRCh37Chr 22, 36691114: 36691114
13MYH9NM_002473.4(MYH9): c.4270G> T (p.Asp1424Tyr)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106

Expression for genes affiliated with Myh9 Related Thrombocytopenia

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Search GEO for disease gene expression data for Myh9 Related Thrombocytopenia.

Pathways for genes affiliated with Myh9 Related Thrombocytopenia

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Compounds for genes affiliated with Myh9 Related Thrombocytopenia

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GO Terms for genes affiliated with Myh9 Related Thrombocytopenia

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Sources for Myh9 Related Thrombocytopenia

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet