MCID: FCH003
MIFTS: 39

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

Characteristics:

HPO:

61
fechtner syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 153640
MedGen34 C0403445
UMLS65 C0403445

Summaries for Fechtner Syndrome

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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 myh9 related thrombocytopenia, and has symptoms including high-frequency sensorineural hearing impairment, neutrophil inclusion bodies and stage 5 chronic kidney disease. 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.

Wikipedia:68 Fechtner syndrome is a variant of Alport syndrome with leukocyte inclusions and macrothrombocytopenia. more...

Related Diseases for Fechtner Syndrome

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Graphical network of the top 20 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 14)
id Description Frequency HPO Source Accession
1 high-frequency sensorineural hearing impairment 67% HP:0001757
2 neutrophil inclusion bodies HP:0008264
3 stage 5 chronic kidney disease HP:0003774
4 prolonged bleeding time HP:0003010
5 giant platelets HP:0001902
6 abnormal bleeding HP:0001892
7 thrombocytopenia HP:0001873
8 high-frequency sensorineural hearing impairment HP:0001757
9 bruising susceptibility HP:0000978
10 hematuria HP:0000790
11 congenital cataract HP:0000519
12 menorrhagia HP:0000132
13 nephritis HP:0000123
14 proteinuria HP:0000093

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
2Phenotypic 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 Syndrome22 MYH9

Anatomical Context for Fechtner Syndrome

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MalaCards organs/tissues related to Fechtner Syndrome:

33
Eye, Kidney, Neutrophil, Breast, Prostate, Monocytes, Adipocyte

Animal Models for Fechtner Syndrome or affiliated genes

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Publications for Fechtner Syndrome

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Articles related to Fechtner Syndrome:

(show all 23)
idTitleAuthorsYear
1
Cidec promotes the differentiation of human adipocytes by degradation of AMPKI+ through ubiquitin-proteasome pathway. (26367078)
2015
2
Induced pluripotent stem cells from polycystic kidney disease patients: a novel tool to model the pathogenesis of cystic kidney disease. (24009236)
2013
3
Risk factors for cholangiocarcinoma in the lower part of Northeast Thailand: a hospital-based case-control study. (24289607)
2013
4
The bovine pericardial patch in breast reconstruction: a case report. (23140923)
2012
5
Intramural gallstones mimicking typical lithiasic cholecystitis. (21079538)
2011
6
Delivery and therapeutic potential of human granzyme B. (20536562)
2010
7
Role of PKC-delta on substance P-induced chemokine synthesis in pancreatic acinar cells. (18160487)
2008
8
Atrophin recruits HDAC1/2 and G9a to modify histone H3K9 and to determine cell fates. (18451879)
2008
9
Reversible autoimmune thyroidiitis and oophoritis in a patient with Addison's disease. (17535393)
2007
10
Leptin, insulin, insulin-like growth factors and their binding proteins in cord serum: insight into fetal growth and discordancy. (17054458)
2006
11
Expression of 5-oxoETE receptor in prostate cancer cells: critical role in survival. (16289380)
2006
12
Chemokine expression is dysregulated in the endometrium of women using progestin-only contraceptives and correlates to elevated recruitment of distinct leukocyte populations. (15979999)
2005
13
Cytoplasmic/nuclear shuttling and tumor progression. (16382038)
2005
14
Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity. (15294915)
2004
15
International collaboration on childhood leukemia. (14704030)
2003
16
Downregulation of gelsolin correlates with the progression to breast carcinoma. (11245335)
2001
17
Peripheral-type benzodiazepine receptors in the regulation of proliferation of MCF-7 human breast carcinoma cell line. (10423168)
1999
18
Association between HLA and islet cell antibodies in diabetic patients with a mitochondrial DNA mutation at base pair 3243. (8897007)
1996
19
Growth hormone insensitivity syndrome (Laron syndrome): main characteristics and effects of IGF1 treatment. (8767171)
1996
20
Progesterone blocks intracellular translocation of free cholesterol derived from cholesteryl ester in macrophages. (7775866)
1995
21
Comparison of retinoic acid and phorbol myristate acetate as inducers of monocytic differentiation. (7512079)
1994
22
Autoimmune oophoritis in thymectomized mice: detection of circulating antibodies against oocytes. (6998618)
1980
23
Desquamative interstitial pneumonia. (6035951)
1967

Variations for Fechtner Syndrome

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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.4270G> C (p.Asp1424His)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
4MYH9NM_002473.5(MYH9): c.3464C> T (p.Thr1155Ile)single nucleotide variantPathogenicrs121913656GRCh37Chr 22, 36691572: 36691572
5MYH9NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
6MYH9NM_002473.5(MYH9): c.2105G> A (p.Arg702His)single nucleotide variantPathogenicrs80338827GRCh37Chr 22, 36702030: 36702030
7MYH9NM_002473.5(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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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
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