MATINS
MCID: MCR359
MIFTS: 42

Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss (MATINS)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

MalaCards integrated aliases for Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:

Name: Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 57 20 72 29 6 17
Fechtner Syndrome 57 73 20 72 36 54 39 70
May-Hegglin Anomaly 57 73 20 72 36 13 54
Sebastian Syndrome 57 20 72 36 54 39 70
Epstein Syndrome 57 73 20 72 36 39 70
Myh9-Related Disorder 20 43 29 6
Macrothrombocytopenia and Progressive Sensorineural Deafness 57 72 39
Macrothrombocytopenia with Leukocyte Inclusions 57 73 72
Dohle Leukocyte Inclusions with Giant Platelets 57 72
Giant Platelet Syndrome with Thrombocytopenia 57 72
Sebastian Platelet Syndrome 57 72
Matins 57 72
Bdplt6 57 72
Epstns 57 72
Ftns 57 72
Mha 57 72
Sbs 57 72
Macrothrombocytopenia, Granulocyte Inclusions with/without Nephritis or Sensorineural Hearing Loss 39
Macrothrombocytopenia, Nephritis, Deafness, and Leukocyte Inclusions 57
Alport Syndrome with Macrothrombocytopenia, Formerly; Apsm, Formerly 57
Macrothrombocytopenia with Dispersed Leukocytic Inclusions 57
Alport Syndrome with Macrothrombocytopenia, Formerly 57
Macrothrombocytopenia, Nephritis, and Deafness 57
Macrothrombocytopathy, Nephritis, and Deafness 72
Bleeding Disorder, Platelet-Type, 6; Bdplt6 57
Alport Syndrome, with Macrothrombocytopenia 72
Autosomal Dominant Myh9 Spectrum Disorders 43
Macrothrombocytopathy-Nephritis-Deafness 72
Myh9-Related Syndromic Thrombocytopenia 20
Bleeding Disorder, Platelet-Type, 6 57
Myh9-Related Macrothrombocytopenias 43
Bleeding Disorder Platelet-Type 6 72
Myh9 Related Thrombocytopenia 20
May-Hegglin Anomaly; Mha 57
Epstein Syndrome; Epstns 57
Sebastian Syndrome; Sbs 57
Fechtner Syndrome; Ftns 57
Myh9 Related Disorders 20
Myh9-Related Syndrome 20
Myh9-Related Disease 20
May-Hegglin Disorder 6
Epsteins Syndrome 54
Apsm, Formerly 57
Myh9-Rd 20
Myh9rd 43
Mpsd 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
most common inherited giant platelet disorder


HPO:

31
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

MedlinePlus Genetics : 43 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).The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which are small cells that normally assist with blood clotting. People with MYH9-related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting.Some people with MYH9-related disorder develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss may be present from birth or can develop anytime into late adulthood.An estimated 30 to 70 percent of people with MYH9-related disorder develop renal disease, usually beginning in early adulthood. The first sign of renal disease in MYH9-related disorder is typically protein or blood in the urine. Renal disease in these individuals particularly affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD).Some affected individuals develop cataracts in early adulthood that worsen over time.Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder.MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.

MalaCards based summary : Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss, also known as fechtner syndrome, is related to macrothrombocytopenia progressive deafness and brooke-spiegler syndrome. An important gene associated with Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss is MYH9 (Myosin Heavy Chain 9), and among its related pathways/superpathways are Tight junction and Regulation of actin cytoskeleton. Affiliated tissues include kidney, eye and neutrophil, and related phenotypes are sensorineural hearing impairment and high-frequency sensorineural hearing impairment

GARD : 20 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 syndrome Fechtner syndrome May-Hegglin anomaly Sebastian syndrome

OMIM® : 57 Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to comprise 4 distinct entities with overlapping features: Fechtner syndrome, May-Hegglin anomaly, Epstein syndrome, and Sebastian syndrome. Fechtner syndrome was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes, with the additional Alport syndrome (301050)-like features of nephritis, hearing loss, and eye abnormalities, predominantly cataracts (Peterson et al., 1985). May-Hegglin anomaly was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. Epstein syndrome was characterized by thrombocytopenia, deafness, and nephritis, and lacked leukocyte inclusion bodies on classic staining of peripheral blood smears. Sebastian syndrome was similar to May-Hegglin anomaly, but had a different ultrastructural appearance of the leukocyte inclusions. Seri et al. (2003) suggested that these 4 disorders were not distinct entities, but rather represented a single disorder with a continuous clinical spectrum because variable phenotypic expression is observed not only between families but also within families having the same MYH9 mutation. In addition, Balduini et al. (2011) noted that all patients present leukocyte inclusion bodies, although of variable size. Seri et al. (2003) proposed the term 'MYH9-related disease' for the disorder; however, an isolated form of nonsyndromic deafness (DFNA17; 603622) is also caused by mutation in the MYH9 gene. (155100) (Updated 05-Apr-2021)

KEGG : 36 The May-Hegglin anomaly (MHA) is a rare autosomal dominant disease characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and variable thrombocytopenia. It has been suggested that mutations in MYH9 result in this disease.

UniProtKB/Swiss-Prot : 72 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss: An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients.

Wikipedia : 73 Epstein syndrome is a rare genetic disease characterized by a mutation in the MYH9 gene in nonmuscle... more...

Related Diseases for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

Diseases related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 macrothrombocytopenia progressive deafness 11.4
2 brooke-spiegler syndrome 11.3
3 myh-9 related disease 11.3
4 sick building syndrome 11.3
5 short bowel syndrome 11.2
6 bernard-soulier syndrome 11.2
7 shaken baby syndrome 11.0
8 congenital short bowel syndrome 10.9
9 thrombocytopenia 10.8
10 purpura 10.6
11 blood platelet disease 10.5
12 thrombocytopenic purpura, autoimmune 10.5
13 branchiootic syndrome 1 10.5
14 alport syndrome 10.5
15 cataract 10.5
16 autosomal dominant macrothrombocytopenia 10.4
17 proteinuria, chronic benign 10.3
18 sensorineural hearing loss 10.3
19 ige responsiveness, atopic 10.3
20 hemolytic anemia 10.3
21 leukemia, acute myeloid 10.2
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
23 coronary thrombosis 10.2
24 leiomyoma 10.2
25 thrombocytopenia due to platelet alloimmunization 10.2
26 myofibroma 10.2
27 kidney disease 10.2
28 aging 10.2
29 deafness, autosomal dominant nonsyndromic sensorineural 17 10.2
30 autosomal dominant non-syndromic sensorineural deafness type dfna 10.2
31 rare genetic deafness 10.2
32 syphilis 10.2
33 chediak-higashi syndrome 10.1
34 interstitial nephritis 10.1
35 rhinitis 10.1
36 immune deficiency disease 10.1
37 yemenite deaf-blind hypopigmentation syndrome 10.1
38 deafness, autosomal dominant 17 10.1
39 angina pectoris 10.1
40 aphasia 10.1
41 pre-eclampsia 10.1
42 thrombotic thrombocytopenic purpura 10.1
43 placenta praevia 10.1
44 splenic sequestration 10.1
45 secondary hyperparathyroidism 10.1
46 focal segmental glomerulosclerosis 10.1
47 hellp syndrome 10.1
48 hyperparathyroidism 10.1
49 glossitis 10.1
50 optic nerve disease 10.1

Graphical network of the top 20 diseases related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:



Diseases related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss

Symptoms & Phenotypes for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

Human phenotypes related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 very rare (1%) HP:0000407
2 high-frequency sensorineural hearing impairment 31 very rare (1%) HP:0001757
3 proteinuria 31 HP:0000093
4 myocardial infarction 31 HP:0001658
5 thrombocytopenia 31 HP:0001873
6 hematuria 31 HP:0000790
7 gastrointestinal hemorrhage 31 HP:0002239
8 epistaxis 31 HP:0000421
9 bruising susceptibility 31 HP:0000978
10 prolonged bleeding time 31 HP:0003010
11 developmental cataract 31 HP:0000519
12 stage 5 chronic kidney disease 31 HP:0003774
13 menorrhagia 31 HP:0000132
14 abnormal thrombosis 31 HP:0001977
15 nephritis 31 HP:0000123
16 prolonged bleeding after dental extraction 31 HP:0006298
17 giant platelets 31 HP:0001902
18 neutrophil inclusion bodies 31 HP:0008264
19 leukocyte inclusion bodies 31 HP:0040235

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
thrombocytopenia
giant platelets
mild-significant bleeding episodes (epistaxis, easy bruisability, postoperative hemorrhage, menorrhagia)
sky-blue leukocyte inclusion bodies (dohle-like bodies) that contain clusters of ribosomes oriented along parallel microfilaments

Head And Neck Ears:
hearing loss, sensorineural (in some patients)

Genitourinary Kidneys:
no kidney disease

Laboratory Abnormalities:
prolonged bleeding time
thrombocytopenia, mild-moderate (60-100 x 10(9)/l)
median mean platelet volume (mpv) 12.5fl
normal platelet aggregation response to epinephrine, adp, collagen, and ristocetin

Cardiovascular Heart:
myocardial infarction (secondary to coronary artery thrombosis)

Clinical features from OMIM®:

155100 (Updated 05-Apr-2021)

Drugs & Therapeutics for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Exploratory Phase II Dose Escalation Study of Eltrombopag in MYH9 Related Disease Completed NCT01133860 Phase 2 eltrombopag

Search NIH Clinical Center for Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss

Genetic Tests for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

Genetic tests related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:

# Genetic test Affiliating Genes
1 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 29 MYH9
2 Myh9-Related Disorder 29

Anatomical Context for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

MalaCards organs/tissues related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:

40
Kidney, Eye, Neutrophil, Myeloid

Publications for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

Articles related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:

(show top 50) (show all 106)
# Title Authors PMID Year
1
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. 57 54 6 61
10973259 2000
2
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. 61 57 6
12792306 2003
3
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 54 57 6
11590545 2001
4
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 57 6 54
10973260 2000
5
Fechtner syndrome: report of a third family and literature review. 57 6 61
8280620 1993
6
Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia. 6 57
29090586 2018
7
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 6 57
16969870 2006
8
Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness. 6 57
15613099 2005
9
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. 6 57
12621333 2003
10
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. 57 6
10739770 2000
11
Macrothrombocytopenia and progressive deafness: a new genetic syndrome. 57 6
1449176 1992
12
Hereditary macrothrombocytopathia, nephritis and deafness. 6 57
5011389 1972
13
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. 61 54 6
12533692 2003
14
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. 6 54 61
11935325 2002
15
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 61 6
12649151 2003
16
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 54 6
11752022 2002
17
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). 54 6
11159552 2001
18
Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13. 61 6
11093280 2000
19
Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. 61 57
11071640 2000
20
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. 57 61
10577925 1999
21
End-stage renal disease in two pediatric patients with Fechtner syndrome. 6 61
10603121 1999
22
Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. 61 57
2176899 1990
23
Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes. 57 61
2154271 1990
24
Fechtner syndrome: clinical and genetic aspects. 61 57
3232700 1988
25
Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. 61 57
2981587 1985
26
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
27
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. 57
21542825 2011
28
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 57
20174760 2010
29
Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene. 6
19450438 2009
30
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. 57
18059020 2008
31
First description of somatic mosaicism in MYH9 disorders. 6
15667538 2005
32
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. 57
10914687 2000
33
Mapping of a gene for May-Hegglin anomaly to chromosome 22q. 57
10598801 1999
34
Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. 57
9116284 1997
35
Alport syndrome: a genetic study of 31 families. 57
1483700 1992
36
May-Hegglin anomaly: a rare cause of thrombocytopenia. 57
1396928 1992
37
Coincidental finding of May-Hegglin anomaly in a patient with end-stage renal failure. 57
1319112 1992
38
Familial case of May-Hegglin anomaly associated with familial spastic paraplegia. 57
2171328 1990
39
Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes. 57
2851314 1988
40
A new familial 'giant platelet syndrome' with structural, metabolic and functional abnormalities of platelets due to a primary megakaryocyte defect. 57
3580299 1987
41
Defective neutrophil mobility in the May-Hegglin anomaly. 57
7459275 1981
42
Megathrombocytopenia associated with glomerulonephritis, deafness and aortic cystic medianecrosis. 57
715372 1978
43
Thrombocytopenia, macrothrombocytopathia, nephritis and deafness. 57
945691 1976
44
Hereditary nephritis, deafness and abnormal thrombopoiesis. Study of a new kindred. 57
1020755 1976
45
Hereditary thrombocytopenia, deafness, and renal disease. 57
1137259 1975
46
May-Hegglin anomaly: a defect in megakaryocyte fragmentation? 57
4853110 1974
47
The May-Hegglin anomaly: ultrastructure of the granulocytic inclusion. 57
5100207 1971
48
ULTRASTRUCTURAL STUDIES OF THE MAY-HEGGLIN ANOMALY. 57
14294769 1965
49
Leukocytic inclusions--Dohle bodies--associated with platelet abnormality (the May-Hegglin anomaly). Report of a family and review of the literature. 57
13940543 1962
50
Simultaneous Constitutional Changes In Neutrophils and Platelets. 57
21009925 1945

Variations for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

ClinVar genetic disease variations for Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:

6 (show top 50) (show all 285)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH9 NM_002473.5(MYH9):c.283G>A (p.Ala95Thr) SNV Pathogenic 623106 rs1603484047 GRCh37: 22:36744999-36744999
GRCh38: 22:36348954-36348954
2 MYH9 NM_002473.5(MYH9):c.2152C>T (p.Arg718Trp) SNV Pathogenic 623108 rs1184544985 GRCh37: 22:36701983-36701983
GRCh38: 22:36305937-36305937
3 MYH9 NM_002473.5(MYH9):c.5770_5779del (p.Gly1924fs) Deletion Pathogenic 623110 rs1603482653 GRCh37: 22:36678818-36678827
GRCh38: 22:36282772-36282781
4 MYH9 NM_002473.5(MYH9):c.99G>C (p.Trp33Cys) SNV Pathogenic 627409 rs1603484059 GRCh37: 22:36745183-36745183
GRCh38: 22:36349138-36349138
5 MYH9 NM_002473.5(MYH9):c.279C>G (p.Asn93Lys) SNV Pathogenic 14075 rs121913655 GRCh37: 22:36745003-36745003
GRCh38: 22:36348958-36348958
6 MYH9 NM_002473.5(MYH9):c.3464C>T (p.Thr1155Ile) SNV Pathogenic 14077 rs121913656 GRCh37: 22:36691572-36691572
GRCh38: 22:36295526-36295526
7 MYH9 NM_002473.5(MYH9):c.5821del (p.Asp1941fs) Deletion Pathogenic 14080 rs587776808 GRCh37: 22:36678776-36678776
GRCh38: 22:36282730-36282730
8 MYH9 NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn) SNV Pathogenic 14082 rs80338831 GRCh37: 22:36688106-36688106
GRCh38: 22:36292060-36292060
9 MYH9 NM_002473.5(MYH9):c.3195_3215del (p.Gln1068_Leu1074del) Deletion Pathogenic 14084 rs876661302 GRCh37: 22:36692946-36692966
GRCh38: 22:36296900-36296920
10 MYH9 NM_002473.5(MYH9):c.3195_3215dup (p.Gln1068_Leu1074dup) Duplication Pathogenic 14085 rs876661302 GRCh37: 22:36692945-36692946
GRCh38: 22:36296899-36296900
11 MYH9 MYH9, 18-BP DEL, NT228 Deletion Pathogenic 14086 GRCh37:
GRCh38:
12 MYH9 NM_002473.5(MYH9):c.2114G>A (p.Arg705His) SNV Pathogenic 14079 rs80338828 GRCh37: 22:36702021-36702021
GRCh38: 22:36305975-36305975
13 MYH9 NM_002473.5(MYH9):c.3494G>T (p.Arg1165Leu) SNV Pathogenic 38965 rs80338830 GRCh37: 22:36691114-36691114
GRCh38: 22:36295068-36295068
14 MYH9 NM_002473.5(MYH9):c.4270G>C (p.Asp1424His) SNV Pathogenic 14076 rs80338831 GRCh37: 22:36688106-36688106
GRCh38: 22:36292060-36292060
15 MYH9 NM_002473.5(MYH9):c.4270G>T (p.Asp1424Tyr) SNV Pathogenic 38966 rs80338831 GRCh37: 22:36688106-36688106
GRCh38: 22:36292060-36292060
16 MYH9 NM_002473.5(MYH9):c.279C>G (p.Asn93Lys) SNV Pathogenic 14075 rs121913655 GRCh37: 22:36745003-36745003
GRCh38: 22:36348958-36348958
17 MYH9 NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn) SNV Pathogenic 14082 rs80338831 GRCh37: 22:36688106-36688106
GRCh38: 22:36292060-36292060
18 MYH9 NM_002473.5(MYH9):c.4270G>T (p.Asp1424Tyr) SNV Pathogenic 38966 rs80338831 GRCh37: 22:36688106-36688106
GRCh38: 22:36292060-36292060
19 MYH9 NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) SNV Pathogenic 14078 rs80338826 GRCh37: 22:36702031-36702031
GRCh38: 22:36305985-36305985
20 MYH9 NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) SNV Pathogenic 14078 rs80338826 GRCh37: 22:36702031-36702031
GRCh38: 22:36305985-36305985
21 MYH9 NM_002473.5(MYH9):c.5797C>T (p.Arg1933Ter) SNV Pathogenic 14072 rs80338835 GRCh37: 22:36678800-36678800
GRCh38: 22:36282754-36282754
22 MYH9 NM_002473.5(MYH9):c.3493C>T (p.Arg1165Cys) SNV Pathogenic 14074 rs80338829 GRCh37: 22:36691115-36691115
GRCh38: 22:36295069-36295069
23 MYH9 NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) SNV Pathogenic 14083 rs121913657 GRCh37: 22:36744995-36744995
GRCh38: 22:36348950-36348950
24 MYH9 NM_002473.5(MYH9):c.3493C>T (p.Arg1165Cys) SNV Pathogenic 14074 rs80338829 GRCh37: 22:36691115-36691115
GRCh38: 22:36295069-36295069
25 MYH9 NM_002473.5(MYH9):c.5797C>T (p.Arg1933Ter) SNV Pathogenic 14072 rs80338835 GRCh37: 22:36678800-36678800
GRCh38: 22:36282754-36282754
26 MYH9 NM_002473.5(MYH9):c.5521G>A (p.Glu1841Lys) SNV Pathogenic 14073 rs80338834 GRCh37: 22:36680520-36680520
GRCh38: 22:36284474-36284474
27 MYH9 NM_002473.5(MYH9):c.5521G>A (p.Glu1841Lys) SNV Pathogenic 14073 rs80338834 GRCh37: 22:36680520-36680520
GRCh38: 22:36284474-36284474
28 MYH9 NM_002473.5(MYH9):c.4340A>T (p.Asp1447Val) SNV Pathogenic 204783 rs797044804 GRCh37: 22:36688036-36688036
GRCh38: 22:36291990-36291990
29 MYH9 NM_002473.6(MYH9):c.97T>C (p.Trp33Arg) SNV Pathogenic 1028020 GRCh37: 22:36745185-36745185
GRCh38: 22:36349140-36349140
30 MYH9 NM_002473.5(MYH9):c.4340A>T (p.Asp1447Val) SNV Likely pathogenic 204783 rs797044804 GRCh37: 22:36688036-36688036
GRCh38: 22:36291990-36291990
31 MYH9 NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) SNV Likely pathogenic 14083 rs121913657 GRCh37: 22:36744995-36744995
GRCh38: 22:36348950-36348950
32 MYH9 NM_002473.5(MYH9):c.4271A>G (p.Asp1424Gly) SNV Likely pathogenic 523453 rs867593888 GRCh37: 22:36688105-36688105
GRCh38: 22:36292059-36292059
33 MYH9 NM_002473.5(MYH9):c.2105G>A (p.Arg702His) SNV Likely pathogenic 14081 rs80338827 GRCh37: 22:36702030-36702030
GRCh38: 22:36305984-36305984
34 MYH9 NM_002473.5(MYH9):c.2105G>A (p.Arg702His) SNV Likely pathogenic 14081 rs80338827 GRCh37: 22:36702030-36702030
GRCh38: 22:36305984-36305984
35 MYH9 NM_002473.6(MYH9):c.5800del (p.Met1934fs) Deletion Likely pathogenic 623111 rs1603482652 GRCh37: 22:36678797-36678797
GRCh38: 22:36282751-36282751
36 MYH9 NM_002473.5(MYH9):c.2104C>A (p.Arg702Ser) SNV Likely pathogenic 627035 rs80338826 GRCh37: 22:36702031-36702031
GRCh38: 22:36305985-36305985
37 MYH9 NM_002473.5(MYH9):c.4340A>G (p.Asp1447Gly) SNV Likely pathogenic 627067 rs797044804 GRCh37: 22:36688036-36688036
GRCh38: 22:36291990-36291990
38 MYH9 NM_002473.5(MYH9):c.2507C>T (p.Pro836Leu) SNV Likely pathogenic 623109 rs1603483077 GRCh37: 22:36697704-36697704
GRCh38: 22:36301658-36301658
39 MYH9 NM_002473.5(MYH9):c.1119G>C (p.Lys373Asn) SNV Likely pathogenic 623107 rs1603483388 GRCh37: 22:36714360-36714360
GRCh38: 22:36318315-36318315
40 MYH9 NM_002473.6(MYH9):c.101T>A (p.Val34Glu) SNV Likely pathogenic 917528 GRCh37: 22:36745181-36745181
GRCh38: 22:36349136-36349136
41 MYH9 NM_002473.5(MYH9):c.97T>G (p.Trp33Gly) SNV Likely pathogenic 623094 rs1603484060 GRCh37: 22:36745185-36745185
GRCh38: 22:36349140-36349140
42 MYH9 NM_002473.6(MYH9):c.5808del (p.Gly1938fs) Deletion Likely pathogenic 623104 rs1603482650 GRCh37: 22:36678789-36678789
GRCh38: 22:36282743-36282743
43 MYH9 NM_002473.5(MYH9):c.220A>G (p.Lys74Glu) SNV Likely pathogenic 623105 rs1603484048 GRCh37: 22:36745062-36745062
GRCh38: 22:36349017-36349017
44 MYH9 NM_002473.6(MYH9):c.2668del (p.Gln890fs) Deletion Likely pathogenic 623096 rs1603483058 GRCh37: 22:36697067-36697067
GRCh38: 22:36301021-36301021
45 MYH9 NM_002473.5(MYH9):c.3202_3222dup (p.Gln1068_Leu1074dup) Duplication Uncertain significance 623098 rs1603482974 GRCh37: 22:36692938-36692939
GRCh38: 22:36296892-36296893
46 MYH9 NM_002473.5(MYH9):c.3584C>T (p.Ser1195Leu) SNV Uncertain significance 623099 rs1603482935 GRCh37: 22:36691024-36691024
GRCh38: 22:36294978-36294978
47 MYH9 NM_002473.5(MYH9):c.4262A>C (p.Glu1421Ala) SNV Uncertain significance 623100 rs1603482879 GRCh37: 22:36688114-36688114
GRCh38: 22:36292068-36292068
48 MYH9 NM_002473.5(MYH9):c.4302G>C (p.Gln1434His) SNV Uncertain significance 623101 rs143979758 GRCh37: 22:36688074-36688074
GRCh38: 22:36292028-36292028
49 MYH9 NM_002473.5(MYH9):c.5032A>G (p.Met1678Val) SNV Uncertain significance 623103 rs901232499 GRCh37: 22:36682793-36682793
GRCh38: 22:36286747-36286747
50 MYH9 NM_002473.5(MYH9):c.5050C>T (p.Gln1684Ter) SNV Uncertain significance 631893 rs1569534723 GRCh37: 22:36682775-36682775
GRCh38: 22:36286729-36286729

UniProtKB/Swiss-Prot genetic disease variations for Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss:

72 (show all 16)
# Symbol AA change Variation ID SNP ID
1 MYH9 p.Asn93Lys VAR_010791 rs121913655
2 MYH9 p.Arg702Cys VAR_010792 rs80338826
3 MYH9 p.Thr1155Ile VAR_010794 rs121913656
4 MYH9 p.Arg1165Cys VAR_010795 rs80338829
5 MYH9 p.Asp1424His VAR_010796 rs80338831
6 MYH9 p.Glu1841Lys VAR_010797 rs80338834
7 MYH9 p.Ala95Thr VAR_018308
8 MYH9 p.Ser96Leu VAR_018309 rs121913657
9 MYH9 p.Lys373Asn VAR_018310
10 MYH9 p.Arg702His VAR_018311 rs80338827
11 MYH9 p.Ser1114Pro VAR_018312 rs200901330
12 MYH9 p.Arg1165Leu VAR_018313 rs80338830
13 MYH9 p.Asp1424Asn VAR_018316 rs80338831
14 MYH9 p.Asp1424Tyr VAR_018317 rs80338831
15 MYH9 p.Ile1816Val VAR_030385 rs762773112
16 MYH9 p.Lys910Gln VAR_044226 rs554332083

Expression for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

Search GEO for disease gene expression data for Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss.

Pathways for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

Pathways related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss according to KEGG:

36
# Name Kegg Source Accession
1 Tight junction hsa04530
2 Regulation of actin cytoskeleton hsa04810

GO Terms for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

Sources for Macrothrombocytopenia and Granulocyte Inclusions with or Without...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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