MCID: FCH003
MIFTS: 38

Fechtner Syndrome malady

Genetic diseases (common) category

Aliases & Classifications for Fechtner Syndrome

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 43Novoseek, 22GTR, 60UMLS
See all sources

Fechtner Syndrome, Aliases & Descriptions:

Name: Fechtner Syndrome 45 10 20 43 22 60
 
Sebastian Syndrome 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 153640

Summaries for Fechtner Syndrome

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OMIM:45 Fechtner syndrome is an autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets,... (153640) more...

MalaCards based summary: Fechtner Syndrome, also known as sebastian syndrome, is related to glomerulonephritis and may-hegglin anomaly, and has symptoms including high-frequency sensorineural hearing impairment, autosomal dominant inheritance and proteinuria. An important gene associated with Fechtner Syndrome is MYH9 (myosin, heavy chain 9, non-muscle), and among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Integrin Pathway. The compounds (+-)-blebbistatin and (r)-(+)-blebbistatin have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and neutrophil, and related mouse phenotypes are cardiovascular system and mortality/aging.

Wikipedia:63 Fechtner syndrome is a variant of Alport syndrome with leukocyte inclusions and macrothrombocytopenia. more...

Related Diseases for Fechtner Syndrome

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Diseases related to Fechtner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1glomerulonephritis30.2MYH9, NPHS2
2may-hegglin anomaly10.4
3sebastian syndrome10.4
4epstein syndrome10.4
5myh9 related thrombocytopenia10.3
6alport syndrome, autosomal dominant10.1
7alport syndrome10.1
8nephritis10.0MYH9, NPHS2
9proteinuria10.0NPHS2, MYH9
10primary hyperoxaluria10.0MYH9, NPHS2
11chronic kidney failure9.8MYH9, NPHS2

Graphical network of diseases related to Fechtner Syndrome:



Diseases related to fechtner syndrome

Symptoms for Fechtner Syndrome

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Symptoms by clinical synopsis from OMIM:

153640

Clinical features from OMIM:

153640

HPO human phenotypes related to Fechtner Syndrome:

(show all 15)
id Description Frequency HPO Source Accession
1 high-frequency sensorineural hearing impairment 67% HP:0001757
2 autosomal dominant inheritance HP:0000006
3 proteinuria HP:0000093
4 nephritis HP:0000123
5 menorrhagia HP:0000132
6 congenital cataract HP:0000519
7 hematuria HP:0000790
8 bruising susceptibility HP:0000978
9 high-frequency sensorineural hearing impairment HP:0001757
10 thrombocytopenia HP:0001873
11 abnormal bleeding HP:0001892
12 giant platelets HP:0001902
13 prolonged bleeding time HP:0003010
14 stage 5 chronic kidney disease HP:0003774
15 neutrophil inclusion bodies HP:0008264

Drugs & Therapeutics for Fechtner Syndrome

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Drug clinical trials:

Search ClinicalTrials for Fechtner Syndrome

Search NIH Clinical Center for Fechtner Syndrome

Genetic Tests for Fechtner Syndrome

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Genetic tests related to Fechtner Syndrome:

id Genetic test Affiliating Genes
1 Fechtner Syndrome20 22 MYH9

Anatomical Context for Fechtner Syndrome

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MalaCards organs/tissues related to Fechtner Syndrome:

31
Eye, Kidney, Neutrophil

Animal Models for Fechtner Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fechtner Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5NPHS2, MYL7, MYH9
2MP:00107688.5NPHS2, MYL7, MYH9
3MP:00053788.4NPHS2, MYL7, MYH9
4MP:00053768.2MYH9, MYL7, NPHS2

Publications for Fechtner Syndrome

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Articles related to Fechtner Syndrome:

(show all 14)
idTitleAuthorsYear
1
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. (20200500)
2010
2
Expression and function of non-muscle myosin-IIA in Fechtner syndrome]. (18718080)
2008
3
Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome). (17655694)
2007
4
Clinical and molecular study on Fechtner syndrome--case report and literature review]. (17649707)
2007
5
Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). (12500226)
2003
6
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
7
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. (12649151)
2003
8
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. (12237319)
2002
9
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. (11752022)
2002
10
Fechtner syndrome: physiologic analysis of macrothrombocytopenia. (10870804)
2000
11
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
12
Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13. (11093280)
2000
13
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. (10577925)
1999
14
Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. (2981587)
1985

Variations for Fechtner Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Fechtner Syndrome:

62
id Symbol AA change Variation ID SNP ID
1MYH9p.Arg702CysVAR_010792
2MYH9p.Thr1155IleVAR_010794
3MYH9p.Arg1165CysVAR_010795
4MYH9p.Asp1424HisVAR_010796
5MYH9p.Glu1841LysVAR_010797
6MYH9p.Arg1165LeuVAR_018313
7MYH9p.Asp1424AsnVAR_018316
8MYH9p.Lys910GlnVAR_044226

Clinvar genetic disease variations for Fechtner Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.4(MYH9): c.5797C> T (p.Arg1933Ter)single nucleotide variantPathogenicrs80338835GRCh37Chr 22, 36678800: 36678800
2MYH9NM_002473.4(MYH9): c.5521G> A (p.Glu1841Lys)single nucleotide variantPathogenicrs80338834GRCh37Chr 22, 36680520: 36680520
3MYH9NM_002473.4(MYH9): c.3493C> T (p.Arg1165Cys)single nucleotide variantPathogenicrs80338829GRCh37Chr 22, 36691115: 36691115
4MYH9NM_002473.4(MYH9): c.4270G> C (p.Asp1424His)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
5MYH9NM_002473.4(MYH9): c.3464C> T (p.Thr1155Ile)single nucleotide variantPathogenicrs121913656GRCh37Chr 22, 36691572: 36691572
6MYH9NM_002473.4(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
7MYH9NM_002473.4(MYH9): c.2105G> A (p.Arg702His)single nucleotide variantPathogenicrs80338827GRCh37Chr 22, 36702030: 36702030
8MYH9NM_002473.4(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106

Expression for genes affiliated with Fechtner Syndrome

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Search GEO for disease gene expression data for Fechtner Syndrome.

Pathways for genes affiliated with Fechtner Syndrome

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Pathways related to Fechtner Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3MYL7, MYH9
2
Show member pathways
9.3MYL7, MYH9
3
Show member pathways
9.3MYL7, MYH9
4
Show member pathways
9.3MYL7, MYH9
5
Show member pathways
9.3MYL7, MYH9
6
Show member pathways
9.3MYL7, MYH9
7
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.3MYL7, MYH9
89.3MYL7, MYH9
9
Show member pathways
9.3MYH9, MYL7
10
Show member pathways
9.3MYH9, MYL7

Compounds for genes affiliated with Fechtner Syndrome

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Compounds related to Fechtner Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1(+-)-blebbistatin599.4MYL7, MYH9
2(r)-(+)-blebbistatin599.3MYH9, MYL7
3bts599.2MYH9, MYL7
4(s)-(-)-blebbistatin599.0MYH9, MYL7
5calcium43 49 24 1211.5NPHS2, MYL7, MYH9

GO Terms for genes affiliated with Fechtner Syndrome

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Cellular components related to Fechtner Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:00432349.0NPHS2, MYH9

Biological processes related to Fechtner Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin cytoskeleton reorganizationGO:00315329.0NPHS2, MYH9

Products for genes affiliated with Fechtner Syndrome

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  • Antibodies
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  • Kits and Assays

Sources for Fechtner Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet