MCID: PRL023
MIFTS: 32

Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Reproductive diseases, Fetal diseases, Cardiovascular diseases

Aliases & Classifications for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

MalaCards integrated aliases for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

Name: Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 57 75 37 29 6
Encephaloclastic Proliferative Vasculopathy 57 59 75 73
Fowler Syndrome 57 59 75 73
Hydrocephaly/hydranencephaly Due to Cerebral Vasculopathy 57 59 75
Cerebral Proliferative Glomeruloid Vasculopathy 59 75
Fowler Christmas Chapple Syndrome 53 73
Pvhh 57 75
Epv 57 75
Proliferative Vasculopathy and Hydranencephaly/hydrocephaly 59
Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome 59
Polycystic Ovaries Urethral Sphincter Dysfunction 53
Encephaloclastic Proliferative Vasculopathy; Epv 57
Voiding Dysfunction and Polycystic Ovaries 53
Fowler-Christmas-Chapple Syndrome 59
Hydranencephaly, Fowler Type 57
Hydranencephaly Fowler Type 75
Fowler's Syndrome 53
Pgv 75

Characteristics:

Orphanet epidemiological data:

59
fowler syndrome
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
stillborn or neonatal death
diagnosis occurs between 23 and 33 weeks' gestation
variable clinical presentation
affected individuals may rarely survive


HPO:

32
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

OMIM : 57 The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016). (225790)

MalaCards based summary : Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome, also known as encephaloclastic proliferative vasculopathy, is related to hydranencephaly and fetal akinesia deformation sequence. An important gene associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome is FLVCR2 (Feline Leukemia Virus Subgroup C Cellular Receptor Family Member 2). Affiliated tissues include ovary, spinal cord and retina, and related phenotypes are polycystic ovaries and abnormality of the urethra

UniProtKB/Swiss-Prot : 75 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome: A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue.

NIH Rare Diseases : 53 Fowler’s syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. Some women with this syndrome have polycystic ovaries as well.

Related Diseases for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Diseases related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hydranencephaly 10.4
2 fetal akinesia deformation sequence 10.1
3 urethritis 10.0

Symptoms & Phenotypes for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ventriculomegaly
cerebellar hypoplasia
dandy-walker malformation
hydranencephaly
more
Head And Neck Face:
micrognathia

Prenatal Manifestations Delivery:
premature delivery

Prenatal Manifestations:
prenatal diagnosis by ultrasound

Head And Neck Eyes:
glomeruloid vascular proliferation in the retina central visual impairment

Head And Neck Head:
microcephaly

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal:
joint contractures
fetal akinesia deformation sequence
limb deformities

Growth Other:
intrauterine growth retardation (iugr)

Muscle Soft Tissue:
muscular atrophy, neurogenic


Clinical features from OMIM:

225790

Human phenotypes related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polycystic ovaries 59 32 frequent (33%) Frequent (79-30%) HP:0000147
2 abnormality of the urethra 59 32 frequent (33%) Frequent (79-30%) HP:0000795
3 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
4 dysuria 59 32 frequent (33%) Frequent (79-30%) HP:0100518
5 urinary retention 59 32 occasional (7.5%) Occasional (29-5%) HP:0000016
6 oligomenorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000876
7 hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001007
8 acne 59 32 occasional (7.5%) Occasional (29-5%) HP:0001061
9 urinary incontinence 59 32 very rare (1%) Very rare (<4-1%) HP:0000020
10 menorrhagia 59 32 very rare (1%) Very rare (<4-1%) HP:0000132
11 amenorrhea 59 32 very rare (1%) Very rare (<4-1%) HP:0000141
12 abnormality of the ovary 59 Very rare (<4-1%)
13 hydrocephalus 32 HP:0000238
14 micrognathia 32 HP:0000347
15 agenesis of corpus callosum 32 HP:0001274
16 dandy-walker malformation 32 HP:0001305
17 cerebellar hypoplasia 32 HP:0001321
18 flexion contracture 32 HP:0001371
19 intrauterine growth retardation 32 HP:0001511
20 polyhydramnios 32 HP:0001561
21 premature birth 32 HP:0001622
22 abnormality of metabolism/homeostasis 32 HP:0001939
23 hydranencephaly 32 HP:0002324
24 hypoplasia of the brainstem 32 HP:0002365

Drugs & Therapeutics for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Search Clinical Trials , NIH Clinical Center for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome

Genetic Tests for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Genetic tests related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

# Genetic test Affiliating Genes
1 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 29 FLVCR2

Anatomical Context for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

MalaCards organs/tissues related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

41
Ovary, Spinal Cord, Retina, Brain, Endothelial, Cerebellum

Publications for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Articles related to Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

# Title Authors Year
1
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism. ( 29500860 )
2018
2
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). ( 20206334 )
2010

Variations for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

UniProtKB/Swiss-Prot genetic disease variations for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 FLVCR2 p.Pro280Arg VAR_064043 rs267606823
2 FLVCR2 p.Leu398Val VAR_064044 rs267606822
3 FLVCR2 p.Thr430Arg VAR_064045 rs267606825
4 FLVCR2 p.Arg84His VAR_064410
5 FLVCR2 p.Ala326Val VAR_064412 rs267606824
6 FLVCR2 p.Thr352Arg VAR_064413
7 FLVCR2 p.Gly412Arg VAR_064414
8 FLVCR2 p.Thr430Met VAR_064415 rs267606825

ClinVar genetic disease variations for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome:

6
(show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLVCR2 NM_017791.2(FLVCR2): c.1289C> G (p.Thr430Arg) single nucleotide variant Pathogenic rs267606825 GRCh37 Chromosome 14, 76107351: 76107351
2 FLVCR2 NM_017791.2(FLVCR2): c.1289C> G (p.Thr430Arg) single nucleotide variant Pathogenic rs267606825 GRCh38 Chromosome 14, 75641008: 75641008
3 FLVCR2 NM_017791.2(FLVCR2): c.329_334del (p.Asn110_Phe112delinsIle) deletion Pathogenic GRCh37 Chromosome 14, 76045644: 76045649
4 FLVCR2 NM_017791.2(FLVCR2): c.329_334del (p.Asn110_Phe112delinsIle) deletion Pathogenic GRCh38 Chromosome 14, 75579301: 75579306
5 FLVCR2 NM_017791.2(FLVCR2): c.1192C> G (p.Leu398Val) single nucleotide variant Pathogenic rs267606822 GRCh37 Chromosome 14, 76105762: 76105762
6 FLVCR2 NM_017791.2(FLVCR2): c.1192C> G (p.Leu398Val) single nucleotide variant Pathogenic rs267606822 GRCh38 Chromosome 14, 75639419: 75639419
7 FLVCR2 NM_017791.2(FLVCR2): c.473C> A (p.Ser158Ter) single nucleotide variant Pathogenic rs138495705 GRCh37 Chromosome 14, 76045788: 76045788
8 FLVCR2 NM_017791.2(FLVCR2): c.473C> A (p.Ser158Ter) single nucleotide variant Pathogenic rs138495705 GRCh38 Chromosome 14, 75579445: 75579445
9 FLVCR2 NM_017791.2(FLVCR2): c.977C> T (p.Ala326Val) single nucleotide variant Pathogenic rs267606824 GRCh37 Chromosome 14, 76099996: 76099996
10 FLVCR2 NM_017791.2(FLVCR2): c.977C> T (p.Ala326Val) single nucleotide variant Pathogenic rs267606824 GRCh38 Chromosome 14, 75633653: 75633653
11 FLVCR2 NM_017791.2(FLVCR2): c.1341+2T> C single nucleotide variant Pathogenic rs780523767 GRCh38 Chromosome 14, 75641062: 75641062
12 FLVCR2 NM_017791.2(FLVCR2): c.1341+2T> C single nucleotide variant Pathogenic rs780523767 GRCh37 Chromosome 14, 76107405: 76107405
13 FLVCR2 NM_017791.2(FLVCR2): c.402C> G (p.Tyr134Ter) single nucleotide variant Pathogenic rs759296326 GRCh38 Chromosome 14, 75579374: 75579374
14 FLVCR2 NM_017791.2(FLVCR2): c.402C> G (p.Tyr134Ter) single nucleotide variant Pathogenic rs759296326 GRCh37 Chromosome 14, 76045717: 76045717
15 FLVCR2 NM_017791.2(FLVCR2): c.421G> A (p.Val141Met) single nucleotide variant Uncertain significance rs193042691 GRCh38 Chromosome 14, 75579393: 75579393
16 FLVCR2 NM_017791.2(FLVCR2): c.421G> A (p.Val141Met) single nucleotide variant Uncertain significance rs193042691 GRCh37 Chromosome 14, 76045736: 76045736
17 FLVCR2 NM_017791.2(FLVCR2): c.953-15C> T single nucleotide variant Uncertain significance rs188707531 GRCh38 Chromosome 14, 75633614: 75633614
18 FLVCR2 NM_017791.2(FLVCR2): c.953-15C> T single nucleotide variant Uncertain significance rs188707531 GRCh37 Chromosome 14, 76099957: 76099957
19 FLVCR2 NM_017791.2(FLVCR2): c.*18C> T single nucleotide variant Uncertain significance rs369026585 GRCh38 Chromosome 14, 75646490: 75646490
20 FLVCR2 NM_017791.2(FLVCR2): c.*18C> T single nucleotide variant Uncertain significance rs369026585 GRCh37 Chromosome 14, 76112833: 76112833
21 FLVCR2 NM_017791.2(FLVCR2): c.*573C> T single nucleotide variant Uncertain significance rs116699854 GRCh38 Chromosome 14, 75647045: 75647045
22 FLVCR2 NM_017791.2(FLVCR2): c.*573C> T single nucleotide variant Uncertain significance rs116699854 GRCh37 Chromosome 14, 76113388: 76113388
23 FLVCR2 NM_017791.2(FLVCR2): c.*1085T> G single nucleotide variant Uncertain significance rs886050790 GRCh38 Chromosome 14, 75647557: 75647557
24 FLVCR2 NM_017791.2(FLVCR2): c.*1085T> G single nucleotide variant Uncertain significance rs886050790 GRCh37 Chromosome 14, 76113900: 76113900
25 FLVCR2 NM_017791.2(FLVCR2): c.*1427_*1428dupGT duplication Uncertain significance rs886050791 GRCh38 Chromosome 14, 75647899: 75647900
26 FLVCR2 NM_017791.2(FLVCR2): c.*1427_*1428dupGT duplication Uncertain significance rs886050791 GRCh37 Chromosome 14, 76114242: 76114243
27 FLVCR2 NM_017791.2(FLVCR2): c.905C> A (p.Ala302Asp) single nucleotide variant Uncertain significance rs183200579 GRCh38 Chromosome 14, 75624705: 75624705
28 FLVCR2 NM_017791.2(FLVCR2): c.905C> A (p.Ala302Asp) single nucleotide variant Uncertain significance rs183200579 GRCh37 Chromosome 14, 76091048: 76091048
29 FLVCR2 NM_017791.2(FLVCR2): c.947C> G (p.Thr316Ser) single nucleotide variant Uncertain significance rs779117746 GRCh38 Chromosome 14, 75624747: 75624747
30 FLVCR2 NM_017791.2(FLVCR2): c.947C> G (p.Thr316Ser) single nucleotide variant Uncertain significance rs779117746 GRCh37 Chromosome 14, 76091090: 76091090
31 FLVCR2 NM_017791.2(FLVCR2): c.1326C> T (p.Leu442=) single nucleotide variant Uncertain significance rs886050787 GRCh38 Chromosome 14, 75641045: 75641045
32 FLVCR2 NM_017791.2(FLVCR2): c.1326C> T (p.Leu442=) single nucleotide variant Uncertain significance rs886050787 GRCh37 Chromosome 14, 76107388: 76107388
33 FLVCR2 NM_017791.2(FLVCR2): c.*756A> G single nucleotide variant Uncertain significance rs78654241 GRCh38 Chromosome 14, 75647228: 75647228
34 FLVCR2 NM_017791.2(FLVCR2): c.*756A> G single nucleotide variant Uncertain significance rs78654241 GRCh37 Chromosome 14, 76113571: 76113571
35 FLVCR2 NM_017791.2(FLVCR2): c.*1633A> C single nucleotide variant Uncertain significance rs552943781 GRCh38 Chromosome 14, 75648105: 75648105
36 FLVCR2 NM_017791.2(FLVCR2): c.*1633A> C single nucleotide variant Uncertain significance rs552943781 GRCh37 Chromosome 14, 76114448: 76114448
37 FLVCR2 NM_017791.2(FLVCR2): c.-356G> C single nucleotide variant Benign rs3813550 GRCh38 Chromosome 14, 75578617: 75578617
38 FLVCR2 NM_017791.2(FLVCR2): c.-356G> C single nucleotide variant Benign rs3813550 GRCh37 Chromosome 14, 76044960: 76044960
39 FLVCR2 NM_017791.2(FLVCR2): c.329_334delACATCT (p.Asn110_Phe112delinsIle) deletion Uncertain significance rs746459536 GRCh38 Chromosome 14, 75579301: 75579306
40 FLVCR2 NM_017791.2(FLVCR2): c.329_334delACATCT (p.Asn110_Phe112delinsIle) deletion Uncertain significance rs746459536 GRCh37 Chromosome 14, 76045644: 76045649
41 FLVCR2 NM_017791.2(FLVCR2): c.1441G> A (p.Ala481Thr) single nucleotide variant Likely benign rs35126362 GRCh38 Chromosome 14, 75641281: 75641281
42 FLVCR2 NM_017791.2(FLVCR2): c.1441G> A (p.Ala481Thr) single nucleotide variant Likely benign rs35126362 GRCh37 Chromosome 14, 76107624: 76107624
43 FLVCR2 NM_017791.2(FLVCR2): c.1474C> T (p.Arg492Trp) single nucleotide variant Uncertain significance rs139495418 GRCh38 Chromosome 14, 75641863: 75641863
44 FLVCR2 NM_017791.2(FLVCR2): c.1474C> T (p.Arg492Trp) single nucleotide variant Uncertain significance rs139495418 GRCh37 Chromosome 14, 76108206: 76108206
45 FLVCR2 NM_017791.2(FLVCR2): c.*517C> T single nucleotide variant Uncertain significance rs188459017 GRCh38 Chromosome 14, 75646989: 75646989
46 FLVCR2 NM_017791.2(FLVCR2): c.*517C> T single nucleotide variant Uncertain significance rs188459017 GRCh37 Chromosome 14, 76113332: 76113332
47 FLVCR2 NM_017791.2(FLVCR2): c.*1098C> A single nucleotide variant Likely benign rs8017287 GRCh38 Chromosome 14, 75647570: 75647570
48 FLVCR2 NM_017791.2(FLVCR2): c.*1098C> A single nucleotide variant Likely benign rs8017287 GRCh37 Chromosome 14, 76113913: 76113913
49 FLVCR2 NM_017791.2(FLVCR2): c.*1588A> C single nucleotide variant Uncertain significance rs764448107 GRCh38 Chromosome 14, 75648060: 75648060
50 FLVCR2 NM_017791.2(FLVCR2): c.*1588A> C single nucleotide variant Uncertain significance rs764448107 GRCh37 Chromosome 14, 76114403: 76114403

Expression for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Search GEO for disease gene expression data for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome.

Pathways for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

GO Terms for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

Sources for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly...

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