MCID: FWL003
MIFTS: 16

Fowler Urethral Sphincter Dysfunction Syndrome

Categories: Rare diseases

Aliases & Classifications for Fowler Urethral Sphincter Dysfunction Syndrome

MalaCards integrated aliases for Fowler Urethral Sphincter Dysfunction Syndrome:

Name: Fowler Urethral Sphincter Dysfunction Syndrome 58
Fowler-Christmas-Chapple Syndrome 58
Fowler Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
fowler urethral sphincter dysfunction syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

UMLS via Orphanet 72 C2931462
Orphanet 58 ORPHA2795

Summaries for Fowler Urethral Sphincter Dysfunction Syndrome

MalaCards based summary : Fowler Urethral Sphincter Dysfunction Syndrome, also known as fowler-christmas-chapple syndrome, is related to proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome and hydranencephaly. Affiliated tissues include ovary, and related phenotypes are emg abnormality and acne

Related Diseases for Fowler Urethral Sphincter Dysfunction Syndrome

Diseases related to Fowler Urethral Sphincter Dysfunction Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 12.3
2 hydranencephaly 10.5
3 hydrocephalus 10.2
4 cystic lymphangioma 10.2
5 hydrocephalus, congenital, 1 10.1
6 alkuraya-kucinskas syndrome 10.1
7 autosomal recessive disease 10.1
8 congenital amyoplasia 10.1
9 cleft palate, isolated 10.0
10 hypertelorism 10.0
11 dandy-walker syndrome 10.0
12 multiple pterygium syndrome, escobar variant 10.0

Graphical network of the top 20 diseases related to Fowler Urethral Sphincter Dysfunction Syndrome:



Diseases related to Fowler Urethral Sphincter Dysfunction Syndrome

Symptoms & Phenotypes for Fowler Urethral Sphincter Dysfunction Syndrome

Human phenotypes related to Fowler Urethral Sphincter Dysfunction Syndrome:

58 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg abnormality 58 Frequent (79-30%)
2 acne 58 Occasional (29-5%)
3 abnormality of the ovary 58 Very rare (<4-1%)
4 polycystic ovaries 58 Frequent (79-30%)
5 abnormality of the urethra 58 Frequent (79-30%)
6 menorrhagia 58 Very rare (<4-1%)
7 urinary incontinence 58 Very rare (<4-1%)
8 dysuria 58 Frequent (79-30%)
9 amenorrhea 58 Very rare (<4-1%)
10 urinary retention 58 Occasional (29-5%)
11 oligomenorrhea 58 Occasional (29-5%)
12 hirsutism 58 Occasional (29-5%)

Drugs & Therapeutics for Fowler Urethral Sphincter Dysfunction Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Characterization of Cerebral Proliferative Vasculopathy Completed NCT03293134

Search NIH Clinical Center for Fowler Urethral Sphincter Dysfunction Syndrome

Genetic Tests for Fowler Urethral Sphincter Dysfunction Syndrome

Anatomical Context for Fowler Urethral Sphincter Dysfunction Syndrome

MalaCards organs/tissues related to Fowler Urethral Sphincter Dysfunction Syndrome:

40
Ovary

Publications for Fowler Urethral Sphincter Dysfunction Syndrome

Articles related to Fowler Urethral Sphincter Dysfunction Syndrome:

(show all 19)
# Title Authors PMID Year
1
Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus. 61
29541808 2018
2
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism. 61
29500860 2018
3
Urogenital Symptoms in Neurologic Patients. 61
28375917 2017
4
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy. 61
25677735 2016
5
Heme and FLVCR-related transporter families SLC48 and SLC49. 61
23506900 2013
6
Sacral neuromodulation with an implantable pulse generator in children with lower urinary tract symptoms: 15-year experience. 61
22902022 2012
7
Revisiting Mendelian disorders through exome sequencing. 61
21331778 2011
8
The Fowler syndrome-associated protein FLVCR2 is an importer of heme. 61
20823265 2010
9
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. 61
20690116 2010
10
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. 61
20518025 2010
11
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). 61
20206334 2010
12
Fowler syndrome-a clinical, radiological, and pathological study of 14 cases. 61
20014121 2010
13
Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases. 61
19635601 2009
14
Fowler syndrome presenting as a Dandy-Walker malformation: a second case report. 61
18702566 2009
15
A case of recurrent first-trimester Fowler syndrome. 61
17454483 2007
16
Early ultrasonographic changes in Fowler syndrome features and review of the literature. 61
16231307 2005
17
Re: First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). 61
12704756 2003
18
Urinary retention after hysterectomy for benign disease: extended diagnostic evaluation and treatment with sacral nerve stimulation. 61
12656902 2003
19
First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy). 61
12493052 2002

Variations for Fowler Urethral Sphincter Dysfunction Syndrome

Expression for Fowler Urethral Sphincter Dysfunction Syndrome

Search GEO for disease gene expression data for Fowler Urethral Sphincter Dysfunction Syndrome.

Pathways for Fowler Urethral Sphincter Dysfunction Syndrome

GO Terms for Fowler Urethral Sphincter Dysfunction Syndrome

Sources for Fowler Urethral Sphincter Dysfunction Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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