MCID: FCH003
MIFTS: 37

Fechtner Syndrome malady

Categories: Genetic diseases (common), Ear diseases, Blood diseases

Aliases & Classifications for Fechtner Syndrome

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Aliases & Descriptions for Fechtner Syndrome:

Name: Fechtner Syndrome 52 24 70 27 12 50 68
Macrothrombocytopathy, Nephritis, Deafness, and Leukocyte Inclusions 24
Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia 24
 
Sebastian Syndrome 68
Ftns 70

Characteristics:

HPO:

64
fechtner syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 153640
MedGen37 C0403445

Summaries for Fechtner Syndrome

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OMIM:52 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 macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions, is related to sebastian syndrome and epstein syndrome, and has symptoms including high-frequency sensorineural hearing impairment, proteinuria and nephritis. An important gene associated with Fechtner Syndrome is MYH9 (Myosin Heavy Chain 9), and among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include eye, kidney and neutrophil.

UniProtKB/Swiss-Prot:70 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.

Wikipedia:71 Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions,... 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:

idRelated DiseaseScoreTop Affiliating Genes
1sebastian syndrome11.3
2epstein syndrome11.3
3may-hegglin anomaly11.2
4myh9 related thrombocytopenia11.0
5alport syndrome, autosomal dominant10.8
6alport syndrome9.8
7glomerulonephritis9.8
8deafness, autosomal dominant 179.5MYH9, MYL7

Graphical network of diseases related to Fechtner Syndrome:



Diseases related to fechtner syndrome

Symptoms & Phenotypes for Fechtner Syndrome

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Symptoms by clinical synopsis from OMIM:

153640

Clinical features from OMIM:

153640

Human phenotypes related to Fechtner Syndrome:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 high-frequency sensorineural hearing impairment64 67% HP:0001757
2 proteinuria64 HP:0000093
3 nephritis64 HP:0000123
4 menorrhagia64 HP:0000132
5 congenital cataract64 HP:0000519
6 hematuria64 HP:0000790
7 bruising susceptibility64 HP:0000978
8 thrombocytopenia64 HP:0001873
9 abnormal bleeding64 HP:0001892
10 giant platelets64 HP:0001902
11 prolonged bleeding time64 HP:0003010
12 stage 5 chronic kidney disease64 HP:0003774
13 neutrophil inclusion bodies64 HP:0008264

Drugs & Therapeutics for Fechtner Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related DiseaseCompletedNCT01133860Phase 2
2Eltrombopag for Inherited ThrombocytopeniasRecruitingNCT02422394Phase 2
3Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional ThrombocytopeniaCompletedNCT00925236

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 Syndrome27 24 MYH9

Anatomical Context for Fechtner Syndrome

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MalaCards organs/tissues related to Fechtner Syndrome:

36
Eye, Kidney, Neutrophil

Publications for Fechtner Syndrome

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Articles related to Fechtner Syndrome:

(show all 23)
idTitleAuthorsYear
1
A patient with Fechtner syndrome successfully treated with romiplostim. (22273764)
2012
2
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. (20200500)
2010
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
Clinical and molecular study on Fechtner syndrome--case report and literature review]. (17649707)
2007
7
Overexpressed platelet integrin alphaIIbbeta3 in a Fechtner syndrome patient uneventfully undergoing adenotomy. (17205288)
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
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. (11752022)
2002
13
Perioperative management of a patient with Fechtner syndrome. (11529472)
2001
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
Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13. (11093280)
2000
18
End-stage renal disease in two pediatric patients with Fechtner syndrome. (10603121)
1999
19
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. (10577925)
1999
20
Fechtner syndrome variant: a new family with mild Alport's manifestations. (8043458)
1994
21
Fechtner syndrome: report of a third family and literature review. (8280620)
1993
22
Fechtner syndrome: clinical and genetic aspects. (3232700)
1988
23
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:

70
id Symbol AA change Variation ID SNP ID
1MYH9p.Arg702CysVAR_010792rs80338826
2MYH9p.Thr1155IleVAR_010794rs121913656
3MYH9p.Arg1165CysVAR_010795rs80338829
4MYH9p.Asp1424HisVAR_010796rs80338831
5MYH9p.Glu1841LysVAR_010797rs80338834
6MYH9p.Arg1165LeuVAR_018313rs80338830
7MYH9p.Asp1424AsnVAR_018316rs80338831
8MYH9p.Lys910GlnVAR_044226rs554332083

Clinvar genetic disease variations for Fechtner Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.5(MYH9): c.5797C> T (p.Arg1933Ter)SNVPathogenicrs80338835GRCh37Chr 22, 36678800: 36678800
2MYH9NM_002473.5(MYH9): c.5521G> A (p.Glu1841Lys)SNVPathogenicrs80338834GRCh37Chr 22, 36680520: 36680520
3MYH9NM_002473.5(MYH9): c.3493C> T (p.Arg1165Cys)SNVPathogenicrs80338829GRCh37Chr 22, 36691115: 36691115
4MYH9NM_002473.5(MYH9): c.4270G> C (p.Asp1424His)SNVPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
5MYH9NM_002473.5(MYH9): c.3464C> T (p.Thr1155Ile)SNVPathogenicrs121913656GRCh37Chr 22, 36691572: 36691572
6MYH9NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys)SNVPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
7MYH9NM_002473.5(MYH9): c.2105G> A (p.Arg702His)SNVPathogenicrs80338827GRCh37Chr 22, 36702030: 36702030
8MYH9NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn)SNVPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
9MYH9NM_002473.5(MYH9): c.3195_3215del21 (p.Gln1068_Leu1074del)deletionPathogenicrs876661302GRCh37Chr 22, 36692946: 36692966

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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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
1myosin complexGO:00164599.1MYH9, MYL7

Sources for Fechtner Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet