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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Myh9 Related Thrombocytopenia, Aliases & Descriptions:

Name: Myh9 Related Thrombocytopenia 41
Myh9-Related Disorder 21 22
Sebastian Syndrome 41 60
Fechtner Syndrome 41 60
Epstein Syndrome 41 60
Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia 41
Macrothrombocytopenia with Leukocyte Inclusions 41
Alport Syndrome with Macrothrombocytopenia 41
Autosomal Dominant Myh9 Spectrum Disorders 21
 
Myh9-Related Macrothrombocytopenias 21
May-Hegglin Thrombocytopenia 41
Sebastian Platelet Syndrome 41
Myh9 Related Disorders 41
May-Hegglin Syndrome 41
May-Hegglin Anomaly 41
Myh9rd 21
Mha 41


Classifications:

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


Summaries for Myh9 Related Thrombocytopenia

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NIH Rare Diseases:41 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:

6 (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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Products for genes affiliated with Myh9 Related Thrombocytopenia

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

Sources for Myh9 Related Thrombocytopenia

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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