Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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

Fechtner Syndrome ⁵⁷ ⁷⁶ ⁷⁵ ³⁷ ²⁹ ¹³ ⁵⁵ ⁶ ⁴⁰ ⁷³

Sebastian Syndrome ⁵⁷ ⁷⁵ ³⁷ ²⁹ ¹³ ⁵⁵ ⁶ ⁴⁰ ⁷³

May-Hegglin Anomaly ⁵⁷ ⁷⁵ ³⁷ ²⁹ ¹³ ⁵⁵ ⁶ ⁴⁰

Epstein Syndrome ⁵⁷ ⁷⁵ ³⁷ ²⁹ ¹³ ⁶ ⁴⁰ ⁷³

Macrothrombocytopenia and Progressive Sensorineural Deafness ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁴⁰

Macrothrombocytopenia with Leukocyte Inclusions ⁵⁷ ⁷⁶ ⁷⁵

Dohle Leukocyte Inclusions with Giant Platelets ⁵⁷ ⁷⁵

Bdplt6 ⁵⁷ ⁷⁵

Epstns ⁵⁷ ⁷⁵

Ftns ⁵⁷ ⁷⁵

Mha ⁵⁷ ⁷⁵

Sbs ⁵⁷ ⁷⁵

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

Giant Platelet Syndrome with Thrombocytopenia ⁵⁷

Bleeding Disorder, Platelet-Type, 6; Bdplt6 ⁵⁷

Macrothrombocytopathy-Nephritis-Deafness ⁷⁵

Bleeding Disorder, Platelet-Type, 6 ⁵⁷

Bleeding Disorder Platelet-Type 6 ⁷⁵

Sebastian Platelet Syndrome ⁵⁷

May-Hegglin Anomaly; Mha ⁵⁷

Epstein Syndrome; Epstns ⁵⁷

Sebastian Syndrome; Sbs ⁵⁷

Fechtner Syndrome; Ftns ⁵⁷

Epsteins Syndrome ⁵⁵

Apsm, Formerly ⁵⁷

Matins ⁵⁷

Mpsd ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
most common inherited giant platelet disorder

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Ear diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 155100

MedGen ⁴² C0340978 C0398641 CN226018 more

MeSH ⁴⁴ D001791 D009394 D003638 more

KEGG ³⁷ H02051 H02052 H02053 more

UMLS ⁷³ C1854520 C0398641 C0403445

Sources

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

OMIM : ⁵⁷ Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to be comprised of 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)

MalaCards based summary : Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss, also known as fechtner syndrome, is related to sick building syndrome and myh9 related thrombocytopenia. 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 eye, kidney and neutrophil, and related phenotypes are bruising susceptibility and thrombocytopenia

UniProtKB/Swiss-Prot : ⁷⁵ Epstein syndrome: An autosomal dominant disorder characterized by the association of macrothrombocytopathy, sensorineural hearing loss and nephritis. Fechtner syndrome: Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are small and poorly organized. Additionally, FTNS is distinguished by Alport-like clinical features of sensorineural deafness, cataracts and nephritis. Macrothrombocytopenia and progressive sensorineural deafness: An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. May-Hegglin anomaly: A disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes. appearing as highly parallel paracrystalline bodies. Sebastian syndrome: Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and less organized than in May-Hegglin anomaly.

Wikipedia : ⁷⁶ Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions,... more...

Sources

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 all 29)

#	Related Disease	Score
1	sick building syndrome	11.4
2	myh9 related thrombocytopenia	11.4
3	alport syndrome, autosomal dominant	11.3
4	short bowel syndrome	11.3
5	macrothrombocytopenia progressive deafness	11.3
6	neural tube defects	11.3
7	brooke-spiegler syndrome	11.2
8	bernard-soulier syndrome	11.0
9	congenital short bowel syndrome	10.9
10	autosomal dominant macrothrombocytopenia	10.2
11	thrombocytopenia	10.1
12	myh-9 related disease	10.1
13	thrombocytopenic purpura, autoimmune	10.0
14	stroke, ischemic	10.0
15	thrombosis	10.0
16	coronary thrombosis	10.0
17	glossitis	10.0
18	pharyngitis	10.0
19	purpura	10.0
20	cerebritis	10.0
21	hypotonia	10.0
22	asthma	9.9
23	shaken baby syndrome	9.9
24	breast cancer	9.7
25	anxiety	9.7
26	acute lymphocytic leukemia	9.7
27	leukemia	9.7
28	venous insufficiency	9.7
29	allergic asthma	9.7

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

Sources

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

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

Genitourinary Kidneys:
no kidney disease

Clinical features from OMIM:

155100

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

³² (show all 22)

#	Description	HPO Frequency	HPO Source Accession
1	bruising susceptibility ³²		HP:0000978
2	thrombocytopenia ³²		HP:0001873
3	giant platelets ³²		HP:0001902
4	gastrointestinal hemorrhage ³²		HP:0002239
5	prolonged bleeding after dental extraction ³²		HP:0006298
6	proteinuria ³²		HP:0000093
7	nephritis ³²		HP:0000123
8	menorrhagia ³²		HP:0000132
9	congenital cataract ³²		HP:0000519
10	hematuria ³²		HP:0000790
11	high-frequency sensorineural hearing impairment ³²	very rare (1%)	HP:0001757
12	prolonged bleeding time ³²		HP:0003010
13	stage 5 chronic kidney disease ³²		HP:0003774
14	neutrophil inclusion bodies ³²		HP:0008264
15	leukocyte inclusion bodies ³²		HP:0040235
16	epistaxis ³²		HP:0000421
17	cataract ³²		HP:0000518
18	hypertension ³²		HP:0000822
19	microscopic hematuria ³²		HP:0002907
20	bilateral sensorineural hearing impairment ³²	very rare (1%)	HP:0008619
21	myocardial infarction ³²		HP:0001658
22	abnormal thrombosis ³²		HP:0001977

Sources

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

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease	Completed	NCT01133860	Phase 2	eltrombopag
2	Eltrombopag for Inherited Thrombocytopenias	Active, not recruiting	NCT02422394	Phase 2	Eltrombopag
3	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

Sources

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	May-Hegglin Anomaly ²⁹	MYH9
2	Fechtner Syndrome ²⁹	MYH9
3	Epstein Syndrome ²⁹	MYH9
4	Sebastian Syndrome ²⁹
5	Macrothrombocytopenia and Progressive Sensorineural Deafness ²⁹

Sources

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:

⁴¹

Eye, Kidney, Neutrophil

Sources

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 all 24)

#	Title	Authors	Year
1	A patient with Fechtner syndrome successfully treated with romiplostim. ( 22273764 )	GrAPpper S....Giagounidis A.	2012
2	[Fechtner syndrome, a nonmuscle myosin heavy chain 9 gene mutation related disease: a case report and literature review]. ( 21429376 )	Hu R....Niu Z.Y.	2011
3	Fechtner syndrome--a myosin heavy chain 9 disorder--and pregnancy. ( 20178880 )	Pelzer U....Riess H.	2010
4	Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. ( 20200500 )	Sekine T....Kunishima S.	2010
5	[Expression and function of non-muscle myosin-IIA in Fechtner syndrome]. ( 18718080 )	Yang H.Y....Ruan C.G.	2008
6	Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome). ( 17655694 )	Selleng K....Warkentin T.E.	2007
7	Overexpressed platelet integrin alphaIIbbeta3 in a Fechtner syndrome patient uneventfully undergoing adenotomy. ( 17205288 )	Sturm A....Grossmann R.	2007
8	[Clinical and molecular study on Fechtner syndrome--case report and literature review]. ( 17649707 )	Yang H.Y....Ruan C.G.	2007
9	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. ( 12792306 )	Seri M....Savoia A.	2003
10	Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. ( 12649151 )	Deutsch S....Beris P.	2003
11	Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). ( 12500226 )	Ghiggeri G.M....Balduini C.L.	2003
12	Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. ( 11752022 )	Arrondel C....Heidet L.	2002
13	Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. ( 12237319 )	Hu A....Sellers J.R.	2002
14	Perioperative management of a patient with Fechtner syndrome. ( 11529472 )	Matzdorff A.C....Greinacher A.	2001
15	Localisation of the gene responsible for fechtner syndrome in a region &lt;600 Kb on 22q11-q13. ( 11093280 )	Cusano R....Seri M.	2000
16	A pregnancy complicated with Fechtner syndrome: a case report. ( 10997559 )	Fukada Y....Hoshi K.	2000
17	Fechtner syndrome: physiologic analysis of macrothrombocytopenia. ( 10870804 )	McBane R.D....Nichols W.L.	2000
18	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. ( 11071640 )	Toren A....Greinacher A.	2000
19	End-stage renal disease in two pediatric patients with Fechtner syndrome. ( 10603121 )	Moxey-Mims M.M....Kher K.K.	1999
20	Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. ( 10577925 )	Toren A....Rechavi G.	1999
21	Fechtner syndrome variant: a new family with mild Alport's manifestations. ( 8043458 )	Pujol-Moix N....Puig J.	1994
22	Fechtner syndrome: report of a third family and literature review. ( 8280620 )	Rocca B....Landolfi R.	1993
23	Fechtner syndrome: clinical and genetic aspects. ( 3232700 )	Gershoni-Baruch R....Lichtig C.	1988
24	Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. ( 2981587 )	Peterson L.C....White J.G.	1985

Sources

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

Genes related to Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYH9	Myosin Heavy Chain 9	Protein Coding	1556.9	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	10739770 10973259 10973260 (more) 11590545 20301740 8280620 11093280 12792306 15667538 11935325 5011389 11159552 12649151 1449176 12621333 11752022 16969870 12533692 19450438 15613099 10603121 11752022 17655694 18718080 19408192 11943476 11935325 17975807 11590545 12533692 18781340 19728970 10973259 11159552 12930685 19954613 19110523 18192507 16978745 10973260 16044442 16642488 19489439 19557653

Sources

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

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

⁷⁵

#	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.Asp1424His	VAR_010796	rs80338831
5	MYH9	p.Glu1841Lys	VAR_010797	rs80338834
6	MYH9	p.Ala95Thr	VAR_018308
7	MYH9	p.Lys373Asn	VAR_018310
8	MYH9	p.Arg1165Leu	VAR_018313	rs80338830
9	MYH9	p.Asp1424Asn	VAR_018316	rs80338831
10	MYH9	p.Asp1424Tyr	VAR_018317	rs80338831

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

⁶

(show all 35)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MYH9	NM_002473.5(MYH9): c.5797C> T (p.Arg1933Ter)	single nucleotide variant	Pathogenic	rs80338835	GRCh37	Chromosome 22, 36678800: 36678800
2	MYH9	NM_002473.5(MYH9): c.5797C> T (p.Arg1933Ter)	single nucleotide variant	Pathogenic	rs80338835	GRCh38	Chromosome 22, 36282754: 36282754
3	MYH9	NM_002473.5(MYH9): c.5521G> A (p.Glu1841Lys)	single nucleotide variant	Pathogenic	rs80338834	GRCh37	Chromosome 22, 36680520: 36680520
4	MYH9	NM_002473.5(MYH9): c.5521G> A (p.Glu1841Lys)	single nucleotide variant	Pathogenic	rs80338834	GRCh38	Chromosome 22, 36284474: 36284474
5	MYH9	NM_002473.5(MYH9): c.3493C> T (p.Arg1165Cys)	single nucleotide variant	Pathogenic	rs80338829	GRCh37	Chromosome 22, 36691115: 36691115
6	MYH9	NM_002473.5(MYH9): c.3493C> T (p.Arg1165Cys)	single nucleotide variant	Pathogenic	rs80338829	GRCh38	Chromosome 22, 36295069: 36295069
7	MYH9	NM_002473.5(MYH9): c.279C> G (p.Asn93Lys)	single nucleotide variant	Pathogenic	rs121913655	GRCh37	Chromosome 22, 36745003: 36745003
8	MYH9	NM_002473.5(MYH9): c.279C> G (p.Asn93Lys)	single nucleotide variant	Pathogenic	rs121913655	GRCh38	Chromosome 22, 36348958: 36348958
9	MYH9	NM_002473.5(MYH9): c.4270G> C (p.Asp1424His)	single nucleotide variant	Pathogenic	rs80338831	GRCh37	Chromosome 22, 36688106: 36688106
10	MYH9	NM_002473.5(MYH9): c.4270G> C (p.Asp1424His)	single nucleotide variant	Pathogenic	rs80338831	GRCh38	Chromosome 22, 36292060: 36292060
11	MYH9	NM_002473.5(MYH9): c.3464C> T (p.Thr1155Ile)	single nucleotide variant	Pathogenic	rs121913656	GRCh37	Chromosome 22, 36691572: 36691572
12	MYH9	NM_002473.5(MYH9): c.3464C> T (p.Thr1155Ile)	single nucleotide variant	Pathogenic	rs121913656	GRCh38	Chromosome 22, 36295526: 36295526
13	MYH9	NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys)	single nucleotide variant	Pathogenic	rs80338826	GRCh37	Chromosome 22, 36702031: 36702031
14	MYH9	NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys)	single nucleotide variant	Pathogenic	rs80338826	GRCh38	Chromosome 22, 36305985: 36305985
15	MYH9	NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs)	deletion	Pathogenic	rs587776808	GRCh37	Chromosome 22, 36678776: 36678776
16	MYH9	NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs)	deletion	Pathogenic	rs587776808	GRCh38	Chromosome 22, 36282730: 36282730
17	MYH9	NM_002473.5(MYH9): c.2105G> A (p.Arg702His)	single nucleotide variant	Pathogenic	rs80338827	GRCh37	Chromosome 22, 36702030: 36702030
18	MYH9	NM_002473.5(MYH9): c.2105G> A (p.Arg702His)	single nucleotide variant	Pathogenic	rs80338827	GRCh38	Chromosome 22, 36305984: 36305984
19	MYH9	NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn)	single nucleotide variant	Pathogenic	rs80338831	GRCh37	Chromosome 22, 36688106: 36688106
20	MYH9	NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn)	single nucleotide variant	Pathogenic	rs80338831	GRCh38	Chromosome 22, 36292060: 36292060
21	MYH9	NM_002473.5(MYH9): c.287C> T (p.Ser96Leu)	single nucleotide variant	Pathogenic	rs121913657	GRCh37	Chromosome 22, 36744995: 36744995
22	MYH9	NM_002473.5(MYH9): c.287C> T (p.Ser96Leu)	single nucleotide variant	Pathogenic	rs121913657	GRCh38	Chromosome 22, 36348950: 36348950
23	MYH9	NM_002473.5(MYH9): c.3195_3215del21 (p.Gln1068_Leu1074del)	deletion	Pathogenic	rs876661302	GRCh37	Chromosome 22, 36692946: 36692966
24	MYH9	NM_002473.5(MYH9): c.3195_3215del21 (p.Gln1068_Leu1074del)	deletion	Pathogenic	rs876661302	GRCh38	Chromosome 22, 36296900: 36296920
25	MYH9	NM_002473.5(MYH9)	duplication	Pathogenic	rs876661303	GRCh37	Chromosome 22, 36692946: 36692966
26	MYH9	NM_002473.5(MYH9)	duplication	Pathogenic	rs876661303	GRCh38	Chromosome 22, 36296900: 36296920
27	MYH9	MYH9, 18-BP DEL, NT228	deletion	Pathogenic
28	MYH9	NM_002473.5(MYH9): c.136C> T (p.Leu46Phe)	single nucleotide variant	Benign/Likely benign	rs147122501	GRCh37	Chromosome 22, 36745146: 36745146
29	MYH9	NM_002473.5(MYH9): c.136C> T (p.Leu46Phe)	single nucleotide variant	Benign/Likely benign	rs147122501	GRCh38	Chromosome 22, 36349101: 36349101
30	MYH9	NM_002473.5(MYH9): c.5275-7_5275-5delTCT	deletion	Uncertain significance	rs780656298	GRCh37	Chromosome 22, 36681380: 36681382
31	MYH9	NM_002473.5(MYH9): c.5275-7_5275-5delTCT	deletion	Uncertain significance	rs780656298	GRCh38	Chromosome 22, 36285334: 36285336
32	MYH9	NM_002473.5(MYH9): c.5563C> T (p.Arg1855Trp)	single nucleotide variant	not provided		GRCh38	Chromosome 22, 36284432: 36284432
33	MYH9	NM_002473.5(MYH9): c.5563C> T (p.Arg1855Trp)	single nucleotide variant	not provided		GRCh37	Chromosome 22, 36680478: 36680478
34	MYH9	NM_002473.5(MYH9): c.658G> A (p.Ala220Thr)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 22, 36322476: 36322476
35	MYH9	NM_002473.5(MYH9): c.658G> A (p.Ala220Thr)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 22, 36718521: 36718521

Sources

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.

Sources

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:

³⁷

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

Sources

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

Sources

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia