ORPHA:716405
Rare disorder with progressive generalized retinal disorder as a major feature
Synonyms: Rare syndromic progressive generalized retinal disorder · Syndromic inherited retinal dystrophy · Syndromic IRD
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare disorder with progressive generalized retinal disorder as a major feature | Rare syndromic progressive generalized retinal disorder · Syndromic inherited retinal dystrophy · Syndromic IRD |
| fr | Maladie rare avec atteinte progressive rétinienne généralisée comme manifestation majeure | Maladie rare avec atteinte progressive rétinienne généralisée syndromique · Dystrophie héréditaire de la rétine syndromique |
| de | Seltene Störung mit progredienter generalisierter retinaler Störung als Hauptmerkmal | Syndromale hereditäre Netzhautdystrophie · Seltene syndromale progrediente generalisierter Retinopathie |
| es | Trastorno raro con afectación retiniana generalizada progresiva como característica principal | Distrofia retiniana hereditaria sindrómica · DRH sindrómica · Trastorno retiniano generalizado progresivo sindrómico raro |
| it | Malattia rara con patologia retinica generalizzata progressiva come caratteristica principale | Malattia retinica generalizzata progressiva sindromica rara · Distrofia sindromica ereditaria della retina · IRD sindromica |
| nl | Zeldzame aandoening met progressieve gegeneraliseerde aandoening van retina als hoofdkenmerk | Syndromale erfelijke retinadystrofie · Syndromale IRD · Zeldzame syndromale progressieve gegeneraliseerde aandoening van retina |
| pt | Rare disorder with progressive generalized retinal disorder as a major feature | |
| pl | Rzadkie postępujące uogólnione zaburzenie z zajęciem siatkówki jako dominującą cechą | = en |
| cs | Rare disorder with progressive generalized retinal disorder as a major feature | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:717321Rare genetic progressive generalized retinal disorder
rare genetic diseases - ORPHA:716361Rare progressive generalized retinal disorder
rare ophthalmic disorders
Children (64):
- ORPHA:14Abetalipoproteinemia
- ORPHA:48818Aceruloplasminemia
- ORPHA:773Adult Refsum disease
- ORPHA:64Alström syndrome
- ORPHA:1021Amaurosis-hypertrichosis syndrome
- ORPHA:1117Aplasia cutis-myopia syndrome
- ORPHA:96Ataxia with vitamin E deficiency
- ORPHA:314572Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
- ORPHA:168549Axial spondylometaphyseal dysplasia
- ORPHA:110Bardet-Biedl syndrome
- ORPHA:171844Blindness-scoliosis-arachnodactyly syndrome
- ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome
- ORPHA:2246Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- ORPHA:191Cockayne syndrome
- ORPHA:193Cohen syndrome
- ORPHA:653709Cone rod dystrophy-short stature syndrome
- ORPHA:1515Cranioectodermal dysplasia
- ORPHA:488197Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
- ORPHA:333Farber disease
- ORPHA:79255GM1 gangliosidosis type 1
- ORPHA:77259Gaucher disease type 1
- ORPHA:313850Infantile cerebellar-retinal degeneration
- ORPHA:1873Jalili syndrome
- ORPHA:220493Joubert syndrome with ocular anomaly
- ORPHA:2318Joubert syndrome with oculorenal defect
- ORPHA:603684KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
- ORPHA:603694KLHL7-related Crisponi/cold-induced sweating-like syndrome
- ORPHA:480Kearns-Sayre syndrome
- ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- ORPHA:75858MORM syndrome
- ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblC
- ORPHA:251279Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
- ORPHA:578Mucolipidosis type IV
- ORPHA:2579Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
- ORPHA:644NARP syndrome
- ORPHA:216Neuronal ceroid lipofuscinosis
- ORPHA:141007Orofaciodigital syndrome type 9
- ORPHA:157850Pantothenate kinase-associated neurodegeneration
- ORPHA:79189Peroxisome biogenesis disorder
- ORPHA:171848Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
- ORPHA:247522Primary ciliary dyskinesia-retinitis pigmentosa syndrome
- ORPHA:416Primary hyperoxaluria
- ORPHA:2196Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- ORPHA:436274Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
- ORPHA:140976RHYNS syndrome
- ORPHA:313800ROSAH syndrome
- ORPHA:1051Ramos-Arroyo syndrome
- ORPHA:1574Retinal degeneration-nanophthalmos-glaucoma syndrome
- ORPHA:494439Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
- ORPHA:140969Saldino-Mainzer syndrome
- ORPHA:796Sandhoff disease
- ORPHA:3156Senior-Loken syndrome
- ORPHA:589442Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
- ORPHA:309294Sialidosis
- ORPHA:3011Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
- ORPHA:611207Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
- ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- ORPHA:845Tay-Sachs disease
- ORPHA:1264Tricho-retino-dento-digital syndrome
- ORPHA:886Usher syndrome
- ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
- ORPHA:85332X-linked intellectual disability-retinitis pigmentosa syndrome
- ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/716405
- This record as JSON: /data/d/716405.json