MATINS
MCID: MCR359
MIFTS: 49

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

Categories: Genetic diseases, Rare diseases
Data Licensing
For inquiries, contact:

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 19 73 28 5 16
Fechtner Syndrome 57 19 75 73 53 38 71
May-Hegglin Anomaly 57 19 75 73 12 53
Sebastian Syndrome 57 19 73 53 38 71
Epstein Syndrome 57 19 75 73 38 71
Myh9-Related Disorder 19 42 28 5
Macrothrombocytopenia and Progressive Sensorineural Deafness 57 73 38
Macrothrombocytopenia with Leukocyte Inclusions 57 75 73
Dohle Leukocyte Inclusions with Giant Platelets 57 73
Giant Platelet Syndrome with Thrombocytopenia 57 73
Sebastian Platelet Syndrome 57 73
Matins 57 73
Bdplt6 57 73
Epstns 57 73
Ftns 57 73
Mha 57 73
Sbs 57 73
Macrothrombocytopenia, Granulocyte Inclusions with/without Nephritis or Sensorineural Hearing Loss 38
Macrothrombocytopenia, Nephritis, Deafness, and Leukocyte Inclusions 57
Macrothrombocytopenia with Dispersed Leukocytic Inclusions 57
Alport Syndrome with Macrothrombocytopenia, Formerly 57
Macrothrombocytopenia, Nephritis, and Deafness 57
Macrothrombocytopathy, Nephritis, and Deafness 73
Alport Syndrome, with Macrothrombocytopenia 73
Autosomal Dominant Myh9 Spectrum Disorders 42
Macrothrombocytopathy-Nephritis-Deafness 73
Myh9-Related Syndromic Thrombocytopenia 19
Bleeding Disorder, Platelet-Type, 6 57
Myh9-Related Macrothrombocytopenias 42
Bleeding Disorder Platelet-Type 6 73
Myh9 Related Thrombocytopenia 19
Myh9 Related Disorders 19
Myh9-Related Syndrome 19
Myh9-Related Disease 19
May-Hegglin Disorder 5
Epsteins Syndrome 53
Apsm, Formerly 57
Myh9-Rd 19
Myh9rd 42
Mpsd 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
macrothrombocytopenia and leukocyte inclusion bodies present at birth
35% sporadic cases vs. 65% familial cases
severe abnormal bleeding are rare
historically, the following eponyms were used to describe the myh9 macrothrombocytopenias -
may-hegglin anomaly - thrombocytopenia, large platelets, and leukocyte inclusions (clustered ribosomes and parallel filaments) sebastian syndrome - thrombocytopenia, large platelets, and leukocyte inclusions (random ribosomes and dispersed filaments) fechtner syndrome - thrombocytopenia, large platelets, and leukocyte inclusions plus sensorineural hearing loss, cataracts, and nephritis epstein syndrome - thrombocytopenia, large platelets, and absence of leukocyte inclusions plus sensorineural hearing loss, and nephritis alport syndrome with macrothrombocytopenia: thrombocytopenia, large platelets, and absence of leukocyte inclusions plus sensorineural hearing loss, cataracts, and nephritis


Classifications:



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

MedlinePlus Genetics: 42 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 myh-9 related disease and bernard-soulier 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 PAK Pathway and ADORA2B mediated anti-inflammatory cytokines production. Affiliated tissues include kidney, eye and skin, and related phenotypes are sensorineural hearing impairment and macrothrombocytopenia

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 08-Dec-2022)

GARD: 19 MYH9-related thrombocytopenia (MYH9RD) is a genetic condition caused by genetic changes 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

UniProtKB/Swiss-Prot: 73 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 75 Epstein syndrome: Epstein syndrome is a rare genetic disease characterized by a mutation in the MYH9 gene in nonmuscle... more...

Fechtner syndrome: Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions,... more...

Macrothrombocytopenia with leukocyte inclusions: May-Hegglin anomaly (MHA), is a rare genetic disorder of the blood platelets that causes them to be... 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 140)
# Related Disease Score Top Affiliating Genes
1 myh-9 related disease 31.4 TUBB1 MYH9
2 bernard-soulier syndrome 31.1 TUBB1 MYH9
3 thrombocytopenia 30.8 TUBB1 MYH9
4 macrothrombocytopenia progressive deafness 11.4
5 brooke-spiegler syndrome 11.3
6 shaken baby syndrome 11.1
7 sick building syndrome 11.1
8 short bowel syndrome 11.1
9 congenital short bowel syndrome 11.0
10 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.7
11 thrombocytopenia due to platelet alloimmunization 10.6
12 blood platelet disease 10.6
13 qualitative platelet defect 10.6
14 purpura 10.6
15 thrombocytopenic purpura, autoimmune 10.6
16 alport syndrome 10.5
17 cataract 10.5
18 sensorineural hearing loss 10.4
19 autosomal dominant macrothrombocytopenia 10.4
20 ige responsiveness, atopic 10.3
21 thrombotic thrombocytopenic purpura, hereditary 10.3
22 hemolytic anemia 10.3
23 aging 10.2
24 leiomyoma, uterine 10.2
25 pre-eclampsia 10.2
26 coronary thrombosis 10.2
27 hemorrhagic disease 10.2
28 kidney disease 10.2
29 rare genetic deafness 10.2
30 syphilis 10.2
31 chediak-higashi syndrome 10.1
32 interstitial nephritis 10.1
33 ataxia with vitamin e deficiency 10.1
34 turner syndrome 10.1
35 rhinitis 10.1
36 chronic rhinitis 10.1
37 immune deficiency disease 10.1
38 moyamoya disease 1 10.1
39 stroke, ischemic 10.1
40 platelet disorder, familial, with associated myeloid malignancy 10.1
41 leukemia, acute myeloid 10.1
42 deafness, autosomal dominant 17 10.1
43 myelodysplastic syndrome 10.1
44 angina pectoris 10.1
45 aphasia 10.1
46 thrombosis 10.1
47 thrombotic thrombocytopenic purpura 10.1
48 arteriovenous malformation 10.1
49 splenic sequestration 10.1
50 secondary hyperparathyroidism 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:

30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 30 Very rare (1%) HP:0000407
2 macrothrombocytopenia 30 Very rare (1%) HP:0040185
3 giant platelets 30 Very rare (1%) HP:0001902
4 high-frequency sensorineural hearing impairment 30 Very rare (1%) HP:0001757
5 impaired adp-induced platelet aggregation 30 Very rare (1%) HP:0004866
6 impaired epinephrine-induced platelet aggregation 30 Very rare (1%) HP:0008148
7 megakaryocyte dysplasia 30 Very rare (1%) HP:0031689
8 leukocyte inclusion bodies 30 Very rare (1%) HP:0040235
9 proteinuria 30 HP:0000093
10 myocardial infarction 30 HP:0001658
11 thrombocytopenia 30 HP:0001873
12 hematuria 30 HP:0000790
13 gastrointestinal hemorrhage 30 HP:0002239
14 epistaxis 30 HP:0000421
15 bruising susceptibility 30 HP:0000978
16 prolonged bleeding time 30 HP:0003010
17 stage 5 chronic kidney disease 30 HP:0003774
18 developmental cataract 30 HP:0000519
19 menorrhagia 30 HP:0000132
20 nephritis 30 HP:0000123
21 prolonged bleeding after dental extraction 30 HP:0006298
22 abnormal thrombosis 30 HP:0001977
23 neutrophil inclusion bodies 30 HP:0008264

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Laboratory Abnormalities:
proteinuria
hematuria

Genitourinary Kidneys:
nephrotic syndrome
end-stage renal failure
proteinuric nephropathy

Genitourinary Internal Genitalia Female:
menorrhagia

Head And Neck Ears:
sensorineural hearing loss

Head And Neck Mouth:
gum bleeding

Hematology:
thrombocytopenia
giant platelets
leukocyte inclusion bodies (dohle-like bodies)
abnormal bleeding, mild (in most cases)
presence of myosin-9 aggregates in neutrophils via immunofluorescence assay

Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruising

Head And Neck Eyes:
congenital cataracts
cataracts, pre-senile

Prenatal Manifestations Delivery:
postpartum hemorrhage (rare)

Clinical features from OMIM®:

155100 (Updated 08-Dec-2022)

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
2 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236

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 28 MYH9
2 Myh9-Related Disorder 28

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

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

MalaCards : Kidney, Eye, Skin, Neutrophil, Bone Marrow, Bone, Brain
ODiseA: Blood And Bone Marrow

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 541)
# Title Authors PMID Year
1
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. 53 62 57 5
11590545 2001
2
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. 53 62 57 5
10973259 2000
3
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 53 62 57 5
10973260 2000
4
Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia. 62 57 5
29090586 2018
5
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. 62 57 5
21542825 2011
6
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. 62 57 5
18059020 2008
7
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. 62 57 5
12792306 2003
8
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. 62 57 5
10739770 2000
9
Fechtner syndrome: report of a third family and literature review. 62 57 5
8280620 1993
10
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? 57 5
16969870 2006
11
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. 57 5
15613099 2005
12
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. 57 5
12621333 2003
13
Macrothrombocytopenia and progressive deafness: a new genetic syndrome. 57 5
1449176 1992
14
Hereditary macrothrombocytopathia, nephritis and deafness. 57 5
5011389 1972
15
Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome). 53 62 5
17655694 2007
16
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. 53 62 5
12533692 2003
17
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. 53 62 5
11935325 2002
18
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. 53 62 5
11752022 2002
19
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). 53 62 5
11159552 2001
20
Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells. 62 5
32545517 2020
21
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease. 62 5
29679756 2018
22
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. 62 5
26226608 2016
23
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders. 62 5
25077172 2014
24
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. 62 5
24186861 2014
25
MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation. 62 5
22627578 2012
26
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. 62 5
20002731 2010
27
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 62 57
20174760 2010
28
Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene. 62 5
19450438 2009
29
MYH9-Related Disease 62 5
20301740 2008
30
Genotype-phenotype correlation in MYH9-related thrombocytopenia. 62 5
16098078 2005
31
First description of somatic mosaicism in MYH9 disorders. 62 5
15667538 2005
32
Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. 62 5
15339844 2005
33
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. 62 5
12649151 2003
34
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. 62 5
12237319 2002
35
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. 62 5
11776386 2001
36
Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13. 62 5
11093280 2000
37
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. 62 57
11071640 2000
38
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. 62 57
10914687 2000
39
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. 62 57
10577925 1999
40
Mapping of a gene for May-Hegglin anomaly to chromosome 22q. 62 57
10598801 1999
41
End-stage renal disease in two pediatric patients with Fechtner syndrome. 62 5
10603121 1999
42
May-Hegglin anomaly: a rare cause of thrombocytopenia. 62 57
1396928 1992
43
Coincidental finding of May-Hegglin anomaly in a patient with end-stage renal failure. 62 57
1319112 1992
44
Familial case of May-Hegglin anomaly associated with familial spastic paraplegia. 62 57
2171328 1990
45
Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. 62 57
2176899 1990
46
Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes. 62 57
2154271 1990
47
Fechtner syndrome: clinical and genetic aspects. 62 57
3232700 1988
48
Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. 62 57
2981587 1985
49
Defective neutrophil mobility in the May-Hegglin anomaly. 62 57
7459275 1981
50
May-Hegglin anomaly: a defect in megakaryocyte fragmentation? 62 57
4853110 1974

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:

5 (show top 50) (show all 302)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH9 NM_002473.6(MYH9):c.3464C>T (p.Thr1155Ile) SNV Pathogenic
14077 rs121913656 GRCh37: 22:36691572-36691572
GRCh38: 22:36295526-36295526
2 MYH9 NM_002473.6(MYH9):c.3195_3215del (p.Gln1068_Leu1074del) DEL Pathogenic
14084 rs876661302 GRCh37: 22:36692946-36692966
GRCh38: 22:36296900-36296920
3 MYH9 NM_002473.6(MYH9):c.3195_3215dup (p.Gln1068_Leu1074dup) DUP Pathogenic
14085 rs876661302 GRCh37: 22:36692945-36692946
GRCh38: 22:36296899-36296900
4 MYH9 NM_002473.6(MYH9):c.228_245del (p.Asn76_Ser81del) DEL Pathogenic
14086 GRCh37: 22:36745037-36745054
GRCh38: 22:36348992-36349009
5 MYH9 NM_002473.6(MYH9):c.283G>A (p.Ala95Thr) SNV Pathogenic
Likely Pathogenic
623106 rs1603484047 GRCh37: 22:36744999-36744999
GRCh38: 22:36348954-36348954
6 MYH9 NM_002473.6(MYH9):c.5770_5779del (p.Gly1924fs) DEL Pathogenic
623110 rs1603482653 GRCh37: 22:36678818-36678827
GRCh38: 22:36282772-36282781
7 MYH9 NM_002473.6(MYH9):c.99G>C (p.Trp33Cys) SNV Pathogenic
627409 rs1603484059 GRCh37: 22:36745183-36745183
GRCh38: 22:36349138-36349138
8 MYH9 NM_002473.6(MYH9):c.97T>C (p.Trp33Arg) SNV Pathogenic
1028020 rs1603484060 GRCh37: 22:36745185-36745185
GRCh38: 22:36349140-36349140
9 MYH9 NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) SNV Pathogenic
Pathogenic
623108 rs1184544985 GRCh37: 22:36701983-36701983
GRCh38: 22:36305937-36305937
10 TUBB1 NM_030773.4(TUBB1):c.624T>A (p.Tyr208Ter) SNV Pathogenic
1698773 GRCh37: 20:57599106-57599106
GRCh38: 20:59024051-59024051
11 MYH9 NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu) SNV Pathogenic
Likely Pathogenic
623109 rs1603483077 GRCh37: 22:36697704-36697704
GRCh38: 22:36301658-36301658
12 MYH9 NM_002473.6(MYH9):c.5765+2T>C SNV Pathogenic
1703779 GRCh37: 22:36680137-36680137
GRCh38: 22:36284091-36284091
13 MYH9 NM_002473.6(MYH9):c.277A>G (p.Asn93Asp) SNV Pathogenic
1703781 GRCh37: 22:36745005-36745005
GRCh38: 22:36348960-36348960
14 MYH9 NM_002473.6(MYH9):c.5773del (p.Asp1925fs) DEL Pathogenic
1684410 GRCh37: 22:36678824-36678824
GRCh38: 22:36282778-36282778
15 MYH9 NM_002473.6(MYH9):c.279C>G (p.Asn93Lys) SNV Pathogenic
Pathogenic
14075 rs121913655 GRCh37: 22:36745003-36745003
GRCh38: 22:36348958-36348958
16 MYH9 NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) SNV Pathogenic
Pathogenic
14078 rs80338826 GRCh37: 22:36702031-36702031
GRCh38: 22:36305985-36305985
17 MYH9 NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) SNV Pathogenic
Pathogenic
14082 rs80338831 GRCh37: 22:36688106-36688106
GRCh38: 22:36292060-36292060
18 MYH9 NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) SNV Pathogenic
Pathogenic/Likely Pathogenic
14083 rs121913657 GRCh37: 22:36744995-36744995
GRCh38: 22:36348950-36348950
19 MYH9 NM_002473.6(MYH9):c.5821del (p.Asp1941fs) DEL Pathogenic
14080 rs587776808 GRCh37: 22:36678776-36678776
GRCh38: 22:36282730-36282730
20 MYH9 NM_002473.6(MYH9):c.4270G>C (p.Asp1424His) SNV Pathogenic
14076 rs80338831 GRCh37: 22:36688106-36688106
GRCh38: 22:36292060-36292060
21 MYH9 NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr) SNV Pathogenic
Pathogenic
38966 rs80338831 GRCh37: 22:36688106-36688106
GRCh38: 22:36292060-36292060
22 MYH9 NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) SNV Pathogenic
Pathogenic
14073 rs80338834 GRCh37: 22:36680520-36680520
GRCh38: 22:36284474-36284474
23 MYH9 NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) SNV Pathogenic
Pathogenic
14072 rs80338835 GRCh37: 22:36678800-36678800
GRCh38: 22:36282754-36282754
24 MYH9 NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) SNV Pathogenic
Pathogenic
14074 rs80338829 GRCh37: 22:36691115-36691115
GRCh38: 22:36295069-36295069
25 MYH9 NM_002473.6(MYH9):c.2105G>A (p.Arg702His) SNV Pathogenic/Likely Pathogenic
Likely Pathogenic
14081 rs80338827 GRCh37: 22:36702030-36702030
GRCh38: 22:36305984-36305984
26 MYH9 NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly) SNV Likely Pathogenic
523453 rs867593888 GRCh37: 22:36688105-36688105
GRCh38: 22:36292059-36292059
27 MYH9 NM_002473.6(MYH9):c.3486G>T (p.Arg1162Ser) SNV Likely Pathogenic
1684415 GRCh37: 22:36691122-36691122
GRCh38: 22:36295076-36295076
28 MYH9 NM_002473.6(MYH9):c.220A>G (p.Lys74Glu) SNV Likely Pathogenic
Likely Pathogenic
623105 rs1603484048 GRCh37: 22:36745062-36745062
GRCh38: 22:36349017-36349017
29 MYH9 NM_002473.6(MYH9):c.4250G>A (p.Arg1417Gln) SNV Likely Pathogenic
1691245 GRCh37: 22:36688126-36688126
GRCh38: 22:36292080-36292080
30 MYH9 NM_002473.6(MYH9):c.4712G>A (p.Arg1571Gln) SNV Likely Pathogenic
1703780 GRCh37: 22:36684831-36684831
GRCh38: 22:36288785-36288785
31 MYH9 NM_002473.6(MYH9):c.4546G>A (p.Val1516Met) SNV Likely Pathogenic
1696214 GRCh37: 22:36685142-36685142
GRCh38: 22:36289096-36289096
32 MYH9 NM_002473.6(MYH9):c.2707C>G (p.Arg903Gly) SNV Likely Pathogenic
1703776 GRCh37: 22:36697028-36697028
GRCh38: 22:36300982-36300982
33 MYH9 NM_002473.6(MYH9):c.4249C>T (p.Arg1417Trp) SNV Likely Pathogenic
1703778 GRCh37: 22:36688127-36688127
GRCh38: 22:36292081-36292081
34 MYH9 NM_002473.6(MYH9):c.4340A>T (p.Asp1447Val) SNV Likely Pathogenic
Not Provided
204783 rs797044804 GRCh37: 22:36688036-36688036
GRCh38: 22:36291990-36291990
35 MYH9 NM_002473.6(MYH9):c.284C>T (p.Ala95Val) SNV Likely Pathogenic
1684327 GRCh37: 22:36744998-36744998
GRCh38: 22:36348953-36348953
36 MYH9 NM_002473.6(MYH9):c.4272C>A (p.Asp1424Glu) SNV Likely Pathogenic
1684413 GRCh37: 22:36688104-36688104
GRCh38: 22:36292058-36292058
37 MYH9 NM_002473.6(MYH9):c.2129A>C (p.Asn710Thr) SNV Likely Pathogenic
1685380 GRCh37: 22:36702006-36702006
GRCh38: 22:36305960-36305960
38 MYH9 NM_002473.6(MYH9):c.2482T>C (p.Trp828Arg) SNV Likely Pathogenic
1679093 GRCh37: 22:36698631-36698631
GRCh38: 22:36302585-36302585
39 MYH9 NM_002473.6(MYH9):c.167_169del (p.Val56del) DEL Likely Pathogenic
1693576 GRCh37: 22:36745113-36745115
GRCh38: 22:36349068-36349070
40 MYH9 NM_002473.6(MYH9):c.101T>A (p.Val34Glu) SNV Likely Pathogenic
917528 rs2017727647 GRCh37: 22:36745181-36745181
GRCh38: 22:36349136-36349136
41 MYH9 NM_002473.6(MYH9):c.5808del (p.Gly1938fs) DEL Likely Pathogenic
623104 rs1603482650 GRCh37: 22:36678789-36678789
GRCh38: 22:36282743-36282743
42 MYH9 NM_002473.6(MYH9):c.5800del (p.Met1934fs) DEL Likely Pathogenic
623111 rs1603482652 GRCh37: 22:36678797-36678797
GRCh38: 22:36282751-36282751
43 MYH9 NM_002473.6(MYH9):c.2104C>A (p.Arg702Ser) SNV Likely Pathogenic
627035 rs80338826 GRCh37: 22:36702031-36702031
GRCh38: 22:36305985-36305985
44 MYH9 NM_002473.6(MYH9):c.4340A>G (p.Asp1447Gly) SNV Likely Pathogenic
627067 rs797044804 GRCh37: 22:36688036-36688036
GRCh38: 22:36291990-36291990
45 MYH9 NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn) SNV Likely Pathogenic
623107 rs1603483388 GRCh37: 22:36714360-36714360
GRCh38: 22:36318315-36318315
46 MYH9 NM_002473.6(MYH9):c.97T>G (p.Trp33Gly) SNV Likely Pathogenic
623094 rs1603484060 GRCh37: 22:36745185-36745185
GRCh38: 22:36349140-36349140
47 MYH9 NM_002473.6(MYH9):c.2668del (p.Gln890fs) DEL Likely Pathogenic
623096 rs1603483058 GRCh37: 22:36697067-36697067
GRCh38: 22:36301021-36301021
48 MYH9 NM_002473.6(MYH9):c.2114G>A (p.Arg705His) SNV Likely Pathogenic
14079 rs80338828 GRCh37: 22:36702021-36702021
GRCh38: 22:36305975-36305975
49 MYH9 NM_002473.6(MYH9):c.122T>C (p.Phe41Ser) SNV Uncertain Significance
377017 rs1057520107 GRCh37: 22:36745160-36745160
GRCh38: 22:36349115-36349115
50 MYH9 NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) SNV Uncertain Significance
Likely Benign
341494 rs368440234 GRCh37: 22:36681194-36681194
GRCh38: 22:36285148-36285148

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

73 (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 rs1603484047
8 MYH9 p.Ser96Leu VAR_018309 rs121913657
9 MYH9 p.Lys373Asn VAR_018310 rs1603483388
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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 TUBB1 MYH9
2
Show member pathways
12.19 TUBB1 MYH9
3
Show member pathways
11.74 TUBB1 MYH9
4
Show member pathways
10.75 TUBB1 MYH9

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

Biological processes related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet aggregation GO:0070527 9.13 TUBB1 MYH9
2 platelet formation GO:0030220 8.8 TUBB1 MYH9

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....