FTNS
MCID: FCH003
MIFTS: 37

Fechtner Syndrome (FTNS) malady

Categories: Genetic diseases, Ear diseases, Blood diseases

Aliases & Classifications for Fechtner Syndrome

Aliases & Descriptions for Fechtner Syndrome:

Name: Fechtner Syndrome 54 24 66 29 13 52 69
Macrothrombocytopathy, Nephritis, Deafness, and Leukocyte Inclusions 24
Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia 24
Sebastian Syndrome 69
Ftns 66

Characteristics:

HPO:

32
fechtner syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 153640
MedGen 40 C0403445

Summaries for Fechtner Syndrome

OMIM : 54 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 proteinuria, thrombocytopenia and hematuria. An important gene associated with Fechtner Syndrome is MYH9 (Myosin Heavy Chain 9), and among its related pathways/superpathways are PAK Pathway and Sweet Taste Signaling. Affiliated tissues include eye, kidney and neutrophil.

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 sebastian syndrome 11.3
2 epstein syndrome 11.3
3 may-hegglin anomaly 11.2
4 myh9 related thrombocytopenia 11.0
5 alport syndrome, autosomal dominant 10.8
6 deafness, autosomal dominant 17 9.8 MYH9 MYL7
7 alport syndrome 9.8
8 glomerulonephritis 9.8

Graphical network of the top 20 diseases related to Fechtner Syndrome:



Diseases related to Fechtner Syndrome

Symptoms & Phenotypes for Fechtner Syndrome

Symptoms by clinical synopsis from OMIM:

153640

Clinical features from OMIM:

153640

Human phenotypes related to Fechtner Syndrome:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 thrombocytopenia 32 HP:0001873
3 hematuria 32 HP:0000790
4 bruising susceptibility 32 HP:0000978
5 prolonged bleeding time 32 HP:0003010
6 menorrhagia 32 HP:0000132
7 stage 5 chronic kidney disease 32 HP:0003774
8 congenital cataract 32 HP:0000519
9 giant platelets 32 HP:0001902
10 nephritis 32 HP:0000123
11 high-frequency sensorineural hearing impairment 32 HP:0001757
12 neutrophil inclusion bodies 32 HP:0008264

Drugs & Therapeutics for Fechtner Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease Completed NCT01133860 Phase 2
2 Eltrombopag for Inherited Thrombocytopenias Active, not recruiting NCT02422394 Phase 2
3 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236

Search NIH Clinical Center for Fechtner Syndrome

Genetic Tests for Fechtner Syndrome

Genetic tests related to Fechtner Syndrome:

id Genetic test Affiliating Genes
1 Fechtner Syndrome 29 24 MYH9

Anatomical Context for Fechtner Syndrome

MalaCards organs/tissues related to Fechtner Syndrome:

39
Eye, Kidney, Neutrophil

Publications for Fechtner Syndrome

Articles related to Fechtner Syndrome:

(show all 23)
id Title Authors Year
1
A patient with Fechtner syndrome successfully treated with romiplostim. ( 22273764 )
2012
2
Fechtner syndrome--a myosin heavy chain 9 disorder--and pregnancy. ( 20178880 )
2010
3
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. ( 20200500 )
2010
4
[Expression and function of non-muscle myosin-IIA in Fechtner syndrome]. ( 18718080 )
2008
5
[Clinical and molecular study on Fechtner syndrome--case report and literature review]. ( 17649707 )
2007
6
Overexpressed platelet integrin alphaIIbbeta3 in a Fechtner syndrome patient uneventfully undergoing adenotomy. ( 17205288 )
2007
7
Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome). ( 17655694 )
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
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. ( 11752022 )
2002
12
Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. ( 12237319 )
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

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

66
id Symbol AA change Variation ID SNP ID
1 MYH9 p.Arg702Cys VAR_010792 rs80338826
2 MYH9 p.Thr1155Ile VAR_010794 rs121913656
3 MYH9 p.Arg1165Cys VAR_010795 rs80338829
4 MYH9 p.Asp1424His VAR_010796 rs80338831
5 MYH9 p.Glu1841Lys VAR_010797 rs80338834
6 MYH9 p.Arg1165Leu VAR_018313 rs80338830
7 MYH9 p.Asp1424Asn VAR_018316 rs80338831
8 MYH9 p.Lys910Gln VAR_044226 rs554332083

ClinVar genetic disease variations for Fechtner Syndrome:

6
id 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.5521G> A (p.Glu1841Lys) single nucleotide variant Pathogenic rs80338834 GRCh37 Chromosome 22, 36680520: 36680520
3 MYH9 NM_002473.5(MYH9): c.4270G> C (p.Asp1424His) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106
4 MYH9 NM_002473.5(MYH9): c.3464C> T (p.Thr1155Ile) single nucleotide variant Pathogenic rs121913656 GRCh37 Chromosome 22, 36691572: 36691572
5 MYH9 NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys) single nucleotide variant Pathogenic rs80338826 GRCh37 Chromosome 22, 36702031: 36702031
6 MYH9 NM_002473.5(MYH9): c.2105G> A (p.Arg702His) single nucleotide variant Pathogenic rs80338827 GRCh37 Chromosome 22, 36702030: 36702030
7 MYH9 NM_002473.5(MYH9): c.4270G> A (p.Asp1424Asn) single nucleotide variant Pathogenic rs80338831 GRCh37 Chromosome 22, 36688106: 36688106

Expression for Fechtner Syndrome

Search GEO for disease gene expression data for Fechtner Syndrome.

Pathways for Fechtner Syndrome

GO Terms for Fechtner Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 8.62 MYH9 MYL7

Sources for Fechtner Syndrome

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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