MHA
MCID: MYH004
MIFTS: 46

Myh9 Related Thrombocytopenia (MHA) malady

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

Summaries for Myh9 Related Thrombocytopenia

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OMIM:46 Fechtner syndrome is an autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets,... (153640) more...

MalaCards based summary: Myh9 Related Thrombocytopenia, also known as may-hegglin anomaly, is related to ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence and macrothrombocytopenia and progressive sensorineural deafness, and has symptoms including high-frequency sensorineural hearing impairment, bilateral sensorineural hearing impairment and micrognathia. An important gene associated with Myh9 Related Thrombocytopenia is MYH9 (myosin, heavy chain 9, non-muscle). Affiliated tissues include eye, kidney and skin.

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

Descriptions from OMIM:46 155100,153650,192445,605249

Aliases & Classifications for Myh9 Related Thrombocytopenia

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Sources:
42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 35MESH via Orphanet, 62UMLS via Orphanet
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Myh9 Related Thrombocytopenia, Aliases & Descriptions:

Name: Myh9 Related Thrombocytopenia 42
May-Hegglin Anomaly 42 21 23 46 44 48 61
Sebastian Syndrome 42 21 23 46 44 48 61
Fechtner Syndrome 42 21 23 46 44 48 61
Epstein Syndrome 42 21 23 46 48 61
Myh9 Related Disorders 42 21 23
Macrothrombocytopenia with Leukocyte Inclusions 48 61
Autosomal Dominant Myh9 Spectrum Disorders 22 61
Alport Syndrome with Macrothrombocytopenia 48 61
Myh9-Related Macrothrombocytopenias 22 61
Sebastian Platelet Syndrome 42 61
 
Myh9-Related Disorder 22 61
Myh9rd 22 61
Ventricular Extrasystoles with Syncopal Episodes - Perodactyly - Robin Sequence 48
Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia 48
May-Hegglin Thrombocytopenia 48
Stoll-Kieny-Dott Syndrome 48
Myh9-Related Disorders 61
May-Hegglin Syndrome 48
Epsteins Syndrome 44
Mha 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
ventricular extrasystoles with syncopal episodes - perodactyly - robin sequence:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet27 D72.0, D69.4, Q87.8
MESH via Orphanet35 C537078, C535507, C537531
UMLS via Orphanet62 C0403445, C0398641, C1854520

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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Symptoms by clinical synopsis from OMIM:

153640

Clinical features from OMIM:

155100,153640,153650,192445,605249

Symptoms:

 48 (show all 20)
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anomalies of nose and olfaction
  • short hand/brachydactyly
  • tapered fingers
  • terminal/third phalangeal bone of fingers hypoplasia
  • short foot/brachydactyly of toes
  • cardiac rhythm disorder/arrhythmia
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • low hair line-front
  • high vaulted/narrow palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anodontia/oligodontia/hypodontia
  • distal phalangeal bones of toes hypoplasia/absence
  • joint/articular deformation
  • microcephaly
  • glossoptosis
  • metacarpal anomalies/archibald's sign
  • camptodactyly of fingers
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Myh9 Related Thrombocytopenia:

(show all 41)
id Description Frequency HPO Source Accession
1 high-frequency sensorineural hearing impairment obligate (100%) HP:0001757
2 bilateral sensorineural hearing impairment obligate (100%) HP:0008619
3 micrognathia hallmark (90%) HP:0000347
4 abnormality of the nose hallmark (90%) HP:0000366
5 brachydactyly syndrome hallmark (90%) HP:0001156
6 tapered finger hallmark (90%) HP:0001182
7 short toe hallmark (90%) HP:0001831
8 short stature hallmark (90%) HP:0004322
9 short distal phalanx of finger hallmark (90%) HP:0009882
10 arrhythmia hallmark (90%) HP:0011675
11 high-frequency sensorineural hearing impairment 67% HP:0001757
12 cleft palate typical (50%) HP:0000175
13 low anterior hairline typical (50%) HP:0000294
14 reduced number of teeth typical (50%) HP:0009804
15 aplasia/hypoplasia of the distal phalanges of the toes typical (50%) HP:0010185
16 glossoptosis occasional (7.5%) HP:0000162
17 microcephaly occasional (7.5%) HP:0000252
18 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
19 camptodactyly of finger occasional (7.5%) HP:0100490
20 cognitive impairment occasional (7.5%) HP:0100543
21 autosomal dominant inheritance HP:0000006
22 proteinuria HP:0000093
23 nephritis HP:0000123
24 menorrhagia HP:0000132
25 congenital cataract HP:0000519
26 hematuria HP:0000790
27 bruising susceptibility HP:0000978
28 high-frequency sensorineural hearing impairment HP:0001757
29 thrombocytopenia HP:0001873
30 abnormal bleeding HP:0001892
31 giant platelets HP:0001902
32 prolonged bleeding time HP:0003010
33 stage 5 chronic kidney disease HP:0003774
34 neutrophil inclusion bodies HP:0008264
35 epistaxis HP:0000421
36 cataract HP:0000518
37 hypertension HP:0000822
38 gastrointestinal hemorrhage HP:0002239
39 microscopic hematuria HP:0002907
40 myocardial infarction HP:0001658
41 abnormal thrombosis HP:0001977

Drugs & Therapeutics for Myh9 Related Thrombocytopenia

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Drug clinical trials:

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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 Disorders21 MYH9
2 Sebastian Syndrome21 23 MYH9
3 Fechtner Syndrome21 23 MYH9
4 Epstein Syndrome21 23 MYH9
5 May-Hegglin Anomaly21 23 MYH9
6 Myh9 Related Disorders23

Anatomical Context for Myh9 Related Thrombocytopenia

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MalaCards organs/tissues related to Myh9 Related Thrombocytopenia:

32
Eye, Kidney, Skin, Bone

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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UniProtKB/Swiss-Prot genetic disease variations for Myh9 Related Thrombocytopenia:

63 (show all 16)
id Symbol AA change Variation ID SNP ID
1MYH9p.Asn93LysVAR_010791
2MYH9p.Arg702CysVAR_010792
3MYH9p.Thr1155IleVAR_010794
4MYH9p.Arg1165CysVAR_010795
5MYH9p.Asp1424HisVAR_010796
6MYH9p.Glu1841LysVAR_010797
7MYH9p.Ala95ThrVAR_018308
8MYH9p.Ser96LeuVAR_018309
9MYH9p.Lys373AsnVAR_018310
10MYH9p.Arg702HisVAR_018311
11MYH9p.Ser1114ProVAR_018312
12MYH9p.Arg1165LeuVAR_018313
13MYH9p.Asp1424AsnVAR_018316
14MYH9p.Asp1424TyrVAR_018317
15MYH9p.Ile1816ValVAR_030385
16MYH9p.Lys910GlnVAR_044226

Clinvar genetic disease variations for Myh9 Related Thrombocytopenia:

7 (show all 16)
id Gene Name 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_002473.5(MYH9): c.5821delG (p.Asp1941Metfs)deletionPathogenicGRCh37Chr 22, 36678776: 36678776
10MYH9NM_002473.4(MYH9): c.2105G> A (p.Arg702His)single nucleotide variantPathogenicrs80338827GRCh37Chr 22, 36702030: 36702030
11MYH9NM_002473.4(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
12MYH9NM_002473.4(MYH9): c.287C> T (p.Ser96Leu)single nucleotide variantPathogenicrs121913657GRCh37Chr 22, 36744995: 36744995
13MYH9MYH9, 21-BP DELdeletionPathogenic
14MYH9MYH9, 21-BP DUPduplicationPathogenic
15MYH9NM_002473.4(MYH9): c.3494G> T (p.Arg1165Leu)single nucleotide variantPathogenicrs80338830GRCh37Chr 22, 36691114: 36691114
16MYH9NM_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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Expression patterns in normal tissues for genes affiliated with Myh9 Related Thrombocytopenia

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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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Sources for Myh9 Related Thrombocytopenia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet