Fowler vasculopathy
Synonyms: Cerebral proliferative glomeruloid vasculopathy · Encephaloclastic proliferative vasculopathy · Hydrocephaly/hydranencephaly due to cerebral vasculopathy · Proliferative vasculopathy and hydranencephaly/hydrocephaly
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina, polyhydramnios and fetal akinesia with arthrogryposis. The disorder is usually prenatally lethal. In rare reported cases that survived beyond infancy, severe intellectual and neurologic disability with seizures, microcephaly and absence of functional movements were reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fowler vasculopathy | Cerebral proliferative glomeruloid vasculopathy · Encephaloclastic proliferative vasculopathy · Hydrocephaly/hydranencephaly due to cerebral vasculopathy · Proliferative vasculopathy and hydranencephaly/hydrocephaly |
| fr | Vasculopathie de Fowler | Hydrocéphalie/hydranencéphalie due à une vasculopathie cérébrale · Vasculopathie gloméruloïde proliférative cérébrale · Vasculopathie proliférative et hydranencéphalie/hydrocéphalie |
| de | Fowler-Vaskulopathie | Fowler-Syndrom · Hydrozephalie/Hydranenzephalie durch zerebrale Vaskulopathie · Proliferative Vaskulopathie und Hydranenzephalie/Hydrozephalie · Vaskulopathie, enzephaloklastische proliferative · Zerebrale Vaskulopathie, glomeruloide proliferative |
| es | Vasculopatía de Fowler | Hidrocefalia/hidranencefalia por vasculopatía cerebral · Síndrome de Fowler · Vasculopatía cerebral glomeruloide proliferativa · Vasculopatía encefaloclástica proliferativa · Vasculopatía proliferativa e hidrocefalia/hidranencefalia |
| it | Sindrome di Fowler | Vasculopatia encefaloclastica proliferativa · Vasculopatia glomeruloide proliferativa cerebrale · Vasculopatia proliferativa e idranencefalia/idrocefalo · Idrocefalo/idranencefalia da vasculopatia cerebrale |
| nl | Vasculopathie van Fowler | Cerebrale proliferatieve glomeruloïde vasculopathie · Encefaloclastische proliferatieve vasculopathie · Hydrocefalie/hydranencefalie als gevolg van cerebrale vasculopathie · Proliferatieve vasculopathie en hydranencefalie/hydrocefalie |
| pt | Síndrome de Fowler | |
| pl | Zespół Fowlera | Encefaloklastyczna waskulopatia proliferacyjna · Proliferacyjna waskulopatia kłębuszkowa mózgu · Waskulopatia proliferacyjna i hydrocefalia/hydranencefalia · Wodogłowie/hydranencefalia z powodu waskulopatii mózgowej |
| cs | Fowlerův syndrom | Cerebrální proliferativní glomeruloidní vaskulopatie · Encefaloklastická proliferativní vaskulopatie · Proliferativní vaskulopatie a hydrocefalus/hydroanencefalie · Hydrocefalus/hydranencefalie způsobená mozkovou vaskulopatií |
| uk | Васкулопатія Фаулера | Церебральна проліферативна гломерулоїдна васкулопатія · Енцефалокластична проліферативна васкулопатія · Гідроцефалія/гідранцефалія внаслідок церебральної васкулопатії · Проліферативна васкулопатія та гідраненцефалія/гідроцефалія |
| zh | Fowler血管病 | 增生性血管病和脑积水/脑发育不全性脑积水 |
| tr | Fowler vaskülopati | Ensefaloklastik proliferatif vaskülopati · Serebral proliferatif glomeruloid vaskülopati · Serebral vaskülopatiye bağlı hidrosefali / hidranensefali · Proliferatif vaskülopati ve hidranensefali / hidrosefali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 225790 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| UMLS | C1856972 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLVCR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:20105 | ENSG00000119686 | 610865 | 14q24.3 | FLVCR choline and putative heme transporter 2 | 20206334[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 44 cases | Worldwide | Case(s) | Validated | 25677735[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25677735[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/221126
- This record as JSON: /data/d/221126.json