- 同
- FEVR
- 同
- FEVR
WordNet
- relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
- occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
PrepTutorEJDIC
- 家族の,家族特有の / 違伝的な,血統にあらわれる
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/04/05 11:14:41」(JST)
[Wiki en表示]
Familial exudative vitreoretinopathy (FEVR) ( FEE-vər) is a genetic disorder affecting the growth and development of blood vessels in the retina of the eye.[1] This disease can lead to visual impairment and sometimes complete blindness in one or both eyes. FEVR is characterized by exudative leakage and hemorrhage of the blood vessels in the retina, along with incomplete vascularization of the peripheral retina. The disease process can lead to retinal folds, tears, and detachments.
Causes
Genetic types include:
| Type |
OMIM |
Gene |
Locus |
| EVR1 |
133780 |
FZD4 |
11q14-q21 |
| EVR2 |
305390 |
NDP |
Xp11.4 |
| EVR3 |
605750 |
? |
11p13-p12 |
| EVR4 |
601813 |
LRP5 |
11q13.4 |
| EVR5 |
613310 |
TSPAN12 |
7q31 |
References
- ^ Shastry BS (2010). "Genetic susceptibility to advanced retinopathy of prematurity (ROP)". J. Biomed. Sci. 17: 69. doi:10.1186/1423-0127-17-69. PMC 2933676. PMID 20738858.
External links
- FEVR.NET website
- GeneReviews/NCBI/NIH/UW entry on Familial Exudative Vitreoretinopathy, Autosomal Dominant
|
Congenital malformations and deformations of eyes (Q10–Q15, 743)
|
|
| Adnexa |
| Eyelid |
- Ptosis
- Ectropion
- Entropion
- Distichia
- Blepharophimosis
- Ablepharon
- Marcus Gunn phenomenon
|
|
| Lacrimal apparatus |
- Congenital lacrimal duct obstruction
|
|
|
| Globe |
| Entire eye |
- Anophthalmia (Cystic eyeball, Cryptophthalmos)
- Microphthalmia
|
|
| Lens |
|
|
| Iris |
|
|
| Anterior segment |
|
|
| Cornea |
- Keratoglobus
- Megalocornea
|
|
| Other |
- Buphthalmos
- Coloboma (Coloboma of optic nerve)
- Hydrophthalmos
- Norrie disease
|
|
|
Cell surface receptor deficiencies
|
|
G protein-coupled receptor
(including hormone) |
| Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty)
- FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis)
- GnRHR (Gonadotropin-releasing hormone insensitivity)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
|
|
| Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
|
|
| Class C |
- CASR (Familial hypocalciuric hypercalcemia)
|
|
| Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
|
|
|
Enzyme-linked receptor
(including
growth factor) |
| RTK |
- ROR2 (Robinow syndrome)
- FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
- FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
- FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
- INSR (Donohue syndrome
- Rabson–Mendenhall syndrome)
- NTRK1 (Congenital insensitivity to pain with anhidrosis)
- KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
|
|
| STPK |
- AMHR2 (Persistent Müllerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
- TGFBR1/TGFBR2 (Loeys–Dietz syndrome)
|
|
| GC |
- GUCY2D (Leber's congenital amaurosis 1)
|
|
|
| JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
|
|
| TNF receptor |
- TNFRSF1A (TNF receptor associated periodic syndrome)
- TNFRSF13B (Selective immunoglobulin A deficiency 2)
- TNFRSF5 (Hyper-IgM syndrome type 3)
- TNFRSF13C (CVID4)
- TNFRSF13B (CVID2)
- TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
|
|
| Lipid receptor |
- LRP: LRP2 (Donnai–Barrow syndrome)
- LRP4 (Cenani–Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
|
|
| Other/ungrouped |
- Immunoglobulin superfamily: AGM3, 6
- Integrin: LAD1
- Glanzmann's thrombasthenia
- Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR hypohidrotic ectodermal dysplasia)
- PTCH1 (Nevoid basal-cell carcinoma syndrome)
- BMPR1A (BMPR1A juvenile polyposis syndrome)
- IL2RG (X-linked severe combined immunodeficiency)
- See also
- cell surface receptors
|
|
Cell membrane protein disorders (other than Cell surface receptor, enzymes, and cytoskeleton)
|
|
| Arrestin |
|
|
| Myelin |
- Pelizaeus–Merzbacher disease
- Dejerine–Sottas disease
- Charcot–Marie–Tooth disease 1B, 2J
|
|
| Pulmonary surfactant |
- Surfactant metabolism dysfunction 1, 2
|
|
| Cell adhesion molecule |
|
IgSF CAM:
|
|
|
|
Cadherin:
|
- DSG1
- Striate palmoplantar keratoderma 1
|
|
- DSG2
- Arrhythmogenic right ventricular dysplasia 10
- DSG4
- DSC2
- Arrhythmogenic right ventricular dysplasia 11
|
|
|
|
Integrin:
|
- cell surface receptor deficiencies
|
|
|
| Tetraspanin |
- TSPAN7
- X-Linked mental retardation 58
- TSPAN12
- Familial exudative vitreoretinopathy 5
|
|
| Other |
- KIND1
- HFE
- HFE hereditary haemochromatosis
- DYSF
- Distal muscular dystrophy
- Limb-girdle muscular dystrophy 2B
|
|
|
See also other cell membrane proteins
|
UpToDate Contents
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English Journal
- Familial Exudative Vitreoretinopathy: Presentation in the First Week of Life.
- Chawla R, Bypareddy R, Chandra P, Vohra R.
- Journal of pediatric ophthalmology and strabismus.J Pediatr Ophthalmol Strabismus.2015 Sep 1;52(5):317-8. doi: 10.3928/01913913-20150819-05.
- PMID 26431558
- Frizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation: A Potential Marker for Prematurity and Retinopathy.
- Dailey WA1, Gryc W2, Garg PG1, Drenser KA3.
- Ophthalmology.Ophthalmology.2015 Sep;122(9):1917-23. doi: 10.1016/j.ophtha.2015.05.036. Epub 2015 Jun 26.
- PURPOSE: To present the association between mutations affecting the Wnt-signaling receptor protein (FZD4), inherited vitreoretinopathies, and retinopathy of prematurity (ROP).DESIGN: Retrospective analysis of prospective samples at a tertiary referral center.PARTICIPANTS: Patients referred to our pr
- PMID 26119001
- Familial Exudative Vitreoretinopathy: Spectral-Domain Optical Coherence Tomography of the Vitreoretinal Interface, Retina, and Choroid.
- Yonekawa Y1, Thomas BJ1, Drenser KA1, Trese MT1, Capone A Jr2.
- Ophthalmology.Ophthalmology.2015 Aug 20. pii: S0161-6420(15)00762-9. doi: 10.1016/j.ophtha.2015.07.024. [Epub ahead of print]
- PURPOSE: The in vivo microstructural features of familial exudative vitreoretinopathy (FEVR) have not been well described. We present new anatomic features of FEVR with functional and genetic correlations.DESIGN: Consecutive, retrospective, observational case series.PARTICIPANTS: Patients with FEVR
- PMID 26299697
Japanese Journal
- 19年後に黄斑浮腫を生じた家族性滲出性硝子体網膜症の1例 (特集 第68回日本臨床眼科学会講演集(4))
- 臨床報告 家族性滲出性硝子体網膜症に続発した網膜上膜に対し硝子体手術を施行した1例
- Kabuki Make-up 症候群に合併した家族性滲出性硝子体網膜症(FEVR)の1例
Related Links
- Summary Disease characteristics. Autosomal dominant familial exudative vitreoretinopathy (adFEVR) is characterized by failure of peripheral retinal vascularization. The visual problems and variable phenotype associated with adFEVR ...
- Information about Familial Exudative Vitreoretinopathy, its treatment and research.
Related Pictures
★リンクテーブル★
[★]
家族性滲出性硝子体網膜症 familial exudative vitreoretinopathy
[★]
- 英
- familial exudative vitreoretinopathy、FEVR
[★]
- 関
- family、family member、household、kindred
[★]