MATINS
MCID: MCR359
MIFTS: 41

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

Categories: Blood diseases, Ear diseases, Genetic 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 75 29 6
Fechtner Syndrome 57 76 75 37 13 55 40 73
Sebastian Syndrome 57 75 37 13 55 40 73
May-Hegglin Anomaly 57 75 37 13 55 40
Epstein Syndrome 57 75 37 13 40 73
Macrothrombocytopenia and Progressive Sensorineural Deafness 57 75 13 40
Macrothrombocytopenia with Leukocyte Inclusions 57 76 75
Dohle Leukocyte Inclusions with Giant Platelets 57 75
Giant Platelet Syndrome with Thrombocytopenia 57 75
Sebastian Platelet Syndrome 57 75
Matins 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
Macrothrombocytopathy, Nephritis, and Deafness 75
Bleeding Disorder, Platelet-Type, 6; Bdplt6 57
Alport Syndrome, with Macrothrombocytopenia 75
Macrothrombocytopathy-Nephritis-Deafness 75
Bleeding Disorder, Platelet-Type, 6 57
Bleeding Disorder Platelet-Type 6 75
May-Hegglin Anomaly; Mha 57
Epstein Syndrome; Epstns 57
Sebastian Syndrome; Sbs 57
Fechtner Syndrome; Ftns 57
Mayhegglin Anomaly 76
Epsteins Syndrome 55
Apsm, Formerly 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:



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 myh9 related thrombocytopenia and sick building 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 eye, kidney and neutrophil, and related phenotypes are hypertension and cataract

UniProtKB/Swiss-Prot : 75 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 : 76 Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions,... 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 71)
# Related Disease Score Top Affiliating Genes
1 myh9 related thrombocytopenia 11.8
2 sick building syndrome 11.6
3 alport syndrome, autosomal dominant 11.4
4 macrothrombocytopenia progressive deafness 11.4
5 short bowel syndrome 11.4
6 brooke-spiegler syndrome 11.4
7 neural tube defects 11.4
8 shaken baby syndrome 11.4
9 bernard-soulier syndrome 11.2
10 congenital short bowel syndrome 11.0
11 thrombocytopenia 10.3
12 autosomal dominant macrothrombocytopenia 10.3
13 japanese encephalitis 10.1
14 intestinal schistosomiasis 10.1
15 schistosomiasis 10.1
16 thrombocytopenic purpura, autoimmune 10.1
17 stroke, ischemic 10.1
18 end stage renal failure 10.1
19 myh-9 related disease 10.1
20 thrombosis 10.1
21 coronary thrombosis 10.1
22 glossitis 10.1
23 pharyngitis 10.1
24 purpura 10.1
25 viral infectious disease 10.1
26 hypotonia 10.1
27 spondylocarpotarsal synostosis syndrome 10.1
28 aging 10.1
29 myopathy, myosin storage, autosomal dominant 10.1
30 retinoblastoma 10.1
31 glomerulonephritis 10.0
32 asthma 10.0
33 pemphigus foliaceus 10.0
34 melanoma 10.0
35 isolated optic neuritis 10.0
36 adamantinoma of long bones 9.8
37 breast cancer 9.8
38 hepatocellular carcinoma 9.8
39 rheumatoid arthritis 9.8
40 scoliosis, isolated 1 9.8
41 disorganization, mouse, homolog of 9.8
42 osteogenic sarcoma 9.8
43 sudden infant death syndrome 9.8
44 anxiety 9.8
45 acute lymphocytic leukemia 9.8
46 brain injury 9.8
47 cutaneous leishmaniasis 9.8
48 liver disease 9.8
49 traumatic brain injury 9.8
50 chronic venous insufficiency 9.8

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...

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

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

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

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

Search Clinical Trials , 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

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, Lung, Brain, Liver

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 22)
# Title Authors Year
1
A patient with Fechtner syndrome successfully treated with romiplostim. ( 22273764 )
2012
2
[Fechtner syndrome, a nonmuscle myosin heavy chain 9 gene mutation related disease: a case report and literature review]. ( 21429376 )
2011
3
Fechtner syndrome--a myosin heavy chain 9 disorder--and pregnancy. ( 20178880 )
2010
4
[Expression and function of non-muscle myosin-IIA in Fechtner syndrome]. ( 18718080 )
2008
5
Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome). ( 17655694 )
2007
6
Overexpressed platelet integrin alphaIIbbeta3 in a Fechtner syndrome patient uneventfully undergoing adenotomy. ( 17205288 )
2007
7
[Clinical and molecular study on Fechtner syndrome--case report and literature review]. ( 17649707 )
2007
8
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 )
2003
9
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. ( 12649151 )
2003
10
Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). ( 12500226 )
2003
11
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. ( 12237319 )
2002
12
Perioperative management of a patient with Fechtner syndrome. ( 11529472 )
2001
13
Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13. ( 11093280 )
2000
14
A pregnancy complicated with Fechtner syndrome: a case report. ( 10997559 )
2000
15
Fechtner syndrome: physiologic analysis of macrothrombocytopenia. ( 10870804 )
2000
16
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 )
2000
17
End-stage renal disease in two pediatric patients with Fechtner syndrome. ( 10603121 )
1999
18
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. ( 10577925 )
1999
19
Fechtner syndrome variant: a new family with mild Alport's manifestations. ( 8043458 )
1994
20
Fechtner syndrome: report of a third family and literature review. ( 8280620 )
1993
21
Fechtner syndrome: clinical and genetic aspects. ( 3232700 )
1988
22
Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. ( 2981587 )
1985

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 (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

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

6 (show all 47)
# 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.2114G> A (p.Arg705His) single nucleotide variant Pathogenic rs80338828 GRCh37 Chromosome 22, 36702021: 36702021
16 MYH9 NM_002473.5(MYH9): c.2114G> A (p.Arg705His) single nucleotide variant Pathogenic rs80338828 GRCh38 Chromosome 22, 36305975: 36305975
17 MYH9 NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs) deletion Pathogenic rs587776808 GRCh37 Chromosome 22, 36678776: 36678776
18 MYH9 NM_002473.5(MYH9): c.5821delG (p.Asp1941Metfs) deletion Pathogenic rs587776808 GRCh38 Chromosome 22, 36282730: 36282730
19 MYH9 NM_002473.5(MYH9): c.2105G> A (p.Arg702His) single nucleotide variant Pathogenic rs80338827 GRCh37 Chromosome 22, 36702030: 36702030
20 MYH9 NM_002473.5(MYH9): c.2105G> A (p.Arg702His) single nucleotide variant Pathogenic rs80338827 GRCh38 Chromosome 22, 36305984: 36305984
21 MYH9 NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
22 MYH9 NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn) single nucleotide variant Pathogenic rs80338831 GRCh38 Chromosome 22, 36292060: 36292060
23 MYH9 NM_002473.5(MYH9): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs121913657 GRCh37 Chromosome 22, 36744995: 36744995
24 MYH9 NM_002473.5(MYH9): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs121913657 GRCh38 Chromosome 22, 36348950: 36348950
25 MYH9 NM_002473.5(MYH9): c.3195_3215del21 (p.Gln1068_Leu1074del) deletion Pathogenic rs876661302 GRCh37 Chromosome 22, 36692946: 36692966
26 MYH9 NM_002473.5(MYH9): c.3195_3215del21 (p.Gln1068_Leu1074del) deletion Pathogenic rs876661302 GRCh38 Chromosome 22, 36296900: 36296920
27 MYH9 NM_002473.5(MYH9) duplication Pathogenic rs876661303 GRCh37 Chromosome 22, 36692946: 36692966
28 MYH9 NM_002473.5(MYH9) duplication Pathogenic rs876661303 GRCh38 Chromosome 22, 36296900: 36296920
29 MYH9 MYH9, 18-BP DEL, NT228 deletion Pathogenic
30 MYH9 NM_002473.5(MYH9): c.2900T> A (p.Val967Glu) single nucleotide variant Benign rs16996652 GRCh37 Chromosome 22, 36696249: 36696249
31 MYH9 NM_002473.5(MYH9): c.2900T> A (p.Val967Glu) single nucleotide variant Benign rs16996652 GRCh38 Chromosome 22, 36300203: 36300203
32 MYH9 NM_002473.5(MYH9): c.3494G> T (p.Arg1165Leu) single nucleotide variant Pathogenic rs80338830 GRCh37 Chromosome 22, 36691114: 36691114
33 MYH9 NM_002473.5(MYH9): c.3494G> T (p.Arg1165Leu) single nucleotide variant Pathogenic rs80338830 GRCh38 Chromosome 22, 36295068: 36295068
34 MYH9 NM_002473.5(MYH9): c.4270G> T (p.Asp1424Tyr) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
35 MYH9 NM_002473.5(MYH9): c.4270G> T (p.Asp1424Tyr) single nucleotide variant Pathogenic rs80338831 GRCh38 Chromosome 22, 36292060: 36292060
36 MYH9 NM_002473.5(MYH9): c.4876A> G (p.Ile1626Val) single nucleotide variant Benign rs2269529 GRCh37 Chromosome 22, 36684354: 36684354
37 MYH9 NM_002473.5(MYH9): c.4876A> G (p.Ile1626Val) single nucleotide variant Benign rs2269529 GRCh38 Chromosome 22, 36288308: 36288308
38 MYH9 NM_002473.5(MYH9): c.136C> T (p.Leu46Phe) single nucleotide variant Benign/Likely benign rs147122501 GRCh38 Chromosome 22, 36349101: 36349101
39 MYH9 NM_002473.5(MYH9): c.136C> T (p.Leu46Phe) single nucleotide variant Benign/Likely benign rs147122501 GRCh37 Chromosome 22, 36745146: 36745146
40 MYH9 NM_002473.5(MYH9): c.4340A> T (p.Asp1447Val) single nucleotide variant Pathogenic rs797044804 GRCh37 Chromosome 22, 36688036: 36688036
41 MYH9 NM_002473.5(MYH9): c.4340A> T (p.Asp1447Val) single nucleotide variant Pathogenic rs797044804 GRCh38 Chromosome 22, 36291990: 36291990
42 MYH9 NM_002473.5(MYH9): c.5275-7_5275-5delTCT deletion Uncertain significance rs780656298 GRCh37 Chromosome 22, 36681380: 36681382
43 MYH9 NM_002473.5(MYH9): c.5275-7_5275-5delTCT deletion Uncertain significance rs780656298 GRCh38 Chromosome 22, 36285334: 36285336
44 MYH9 NM_002473.5(MYH9): c.5563C> T (p.Arg1855Trp) single nucleotide variant not provided GRCh38 Chromosome 22, 36284432: 36284432
45 MYH9 NM_002473.5(MYH9): c.5563C> T (p.Arg1855Trp) single nucleotide variant not provided GRCh37 Chromosome 22, 36680478: 36680478
46 MYH9 NM_002473.5(MYH9): c.658G> A (p.Ala220Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 36322476: 36322476
47 MYH9 NM_002473.5(MYH9): c.658G> A (p.Ala220Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 36718521: 36718521

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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