MCID: FCH003
MIFTS: 36

Fechtner Syndrome malady

Genetic diseases (common), Ear diseases, Blood diseases categories

Aliases & Classifications for Fechtner Syndrome

About this section

Aliases & Descriptions for Fechtner Syndrome:

Name: Fechtner Syndrome 49 11 22 47 24 65 67
Macrothrombocytopathy, Nephritis, Deafness, and Leukocyte Inclusions 22
Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia 22
 
Sebastian Syndrome 65
Ftns 67


Classifications:



External Ids:

OMIM49 153640
MedGen34 C0403445

Summaries for Fechtner Syndrome

About this section
OMIM:49 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 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 Actin Nucleation by ARP-WASP Complex. Affiliated tissues include eye, kidney and neutrophil.

UniProtKB/Swiss-Prot:67 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.

Related Diseases for Fechtner Syndrome

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1sebastian syndrome30.3MYH9, MYL7
2may-hegglin anomaly10.4
3epstein syndrome10.4
4myh9 related thrombocytopenia10.3
5alport syndrome, autosomal dominant10.1
6alport syndrome10.1
7glomerulonephritis10.1

Graphical network of diseases related to Fechtner Syndrome:



Diseases related to fechtner syndrome

Symptoms for Fechtner Syndrome

About this section

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

About this section

Interventional clinical trials:

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

Search NIH Clinical Center for Fechtner Syndrome

Genetic Tests for Fechtner Syndrome

About this section

Genetic tests related to Fechtner Syndrome:

id Genetic test Affiliating Genes
1 Fechtner Syndrome22 24 MYH9

Anatomical Context for Fechtner Syndrome

About this section

MalaCards organs/tissues related to Fechtner Syndrome:

33
Eye, Kidney, Neutrophil

Animal Models for Fechtner Syndrome or affiliated genes

About this section

Publications for Fechtner Syndrome

About this section

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
Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). (12500226)
2003
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)
2003
10
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. (12649151)
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

About this section

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

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.5(MYH9): c.5797C> T (p.Arg1933Ter)single nucleotide variantPathogenicrs80338835GRCh37Chr 22, 36678800: 36678800
2MYH9NM_002473.5(MYH9): c.5521G> A (p.Glu1841Lys)single nucleotide variantPathogenicrs80338834GRCh37Chr 22, 36680520: 36680520
3MYH9NM_002473.5(MYH9): c.3493C> T (p.Arg1165Cys)single nucleotide variantPathogenicrs80338829GRCh37Chr 22, 36691115: 36691115
4MYH9NM_002473.5(MYH9): c.4270G> C (p.Asp1424His)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
5MYH9NM_002473.5(MYH9): c.3464C> T (p.Thr1155Ile)single nucleotide variantPathogenicrs121913656GRCh37Chr 22, 36691572: 36691572
6MYH9NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
7MYH9NM_002473.5(MYH9): c.2105G> A (p.Arg702His)single nucleotide variantPathogenicrs80338827GRCh37Chr 22, 36702030: 36702030
8MYH9NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
9MYH9MYH9, 21-BP DELdeletionPathogenic

Expression for genes affiliated with Fechtner Syndrome

About this section
Search GEO for disease gene expression data for Fechtner Syndrome.

Pathways for genes affiliated with Fechtner Syndrome

About this section

GO Terms for genes affiliated with Fechtner Syndrome

About this section

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

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet