FLVCR2, FLVCR heme transporter 2, 55640

N. diseases: 23; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 GeneticVariation disease BEFREE Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790), also known as Fowler syndrome, is a rare autosomal recessive disorder, caused by mutations in FLVCR2. 25677735 2016
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 GeneticVariation disease UNIPROT Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). 20206334 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 GeneticVariation disease UNIPROT High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. 20690116 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 GermlineCausalMutation disease ORPHANET Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). 20206334 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 GeneticVariation disease BEFREE Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). 20206334 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 GeneticVariation disease UNIPROT Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. 20518025 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). 20206334 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). 20206334 2010
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 CausalMutation disease CLINVAR
CUI: C1856972
Disease: Encephaloclastic Proliferative Vasculopathy
Encephaloclastic Proliferative Vasculopathy 		0.720 Biomarker disease CTD_human
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 GeneticVariation disease BEFREE The present report confirms the genetic homogeneity of Fowler syndrome and describes a new FLVCR2 mutation affecting the protein function. 29500860 2018
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 GeneticVariation disease BEFREE Investigation with whole-exome sequencing (WES) revealed, in both patients, a homozygous pathogenic mutation in FLVCR2, c.1289C>T, compatible with a diagnosis of Fowler syndrome. 25677735 2016
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 GeneticVariation disease BEFREE Mutations of SLC49A2 encoding FLVCR2 are observed in Fowler syndrome, a rare proliferative vascular disorder of the brain. 23506900 2013
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 GermlineCausalMutation disease ORPHANET Direct sequencing of candidate genes within the target interval revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome. 20206334 2010
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 Biomarker disease BEFREE The Fowler syndrome-associated protein FLVCR2 is an importer of heme. 20823265 2010
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 GeneticVariation disease BEFREE We report novel germline mutations in feline leukemia virus subgroup C cellular-receptor-family member 2, FLVCR2, which has recently been shown to cause FS. 20518025 2010
CUI: C3203738
Disease: Fowler syndrome
Fowler syndrome 		0.360 GeneticVariation disease BEFREE Direct sequencing of candidate genes within the target interval revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome. 20206334 2010
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		0.110 GeneticVariation disease BEFREE Current literature on FLVCR2 is relatively sparse; identifying additional patients with similar mutations will aid in defining the clinical significance of a gene mutation and the contribution to the etiology of hydranencephaly. 25131804 2015
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		0.110 Biomarker disease HPO
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 Biomarker phenotype HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO