ORPHA:98973
Posterior polymorphous corneal dystrophy
Synonyms: PPCD · Posterior polymorphous dystrophy · Schlichting dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Posterior polymorphous corneal dystrophy | PPCD · Posterior polymorphous dystrophy · Schlichting dystrophy |
| fr | Dystrophie cornéenne postérieure polymorphe | Dystrophie de Schlichting · Dystrophie postérieure polymorphe · PPCD |
| de | Hornhautdystrophie, polymorphe posteriore | Hornhautdystrophie, hintere polymorphe · PPCD · Schlichting-Dystrophie |
| es | Distrofia corneal polimorfa posterior | |
| it | Distrofia corneale polimorfa posteriore | Distrofia di Schlichting · Distrofia polimorfa posteriore · PPCD |
| nl | Posterieure polymorfe corneadystrofie | Dystrofie van Schlichting · PPCD · Posterieure polymorfe dystrofie · Posterieure polymorfe hoornvliesdystrofie |
| pt | Distrofia corneana, polimorfa posterior | |
| pl | Polimorficzna tylna dystrofia rogówki | Dystrofia Schlichtinga · Polimorficzna tylna dystrofia · PPCD |
| cs | Zadní polymorfní dystrofie rohovky | PPCD · Zadní polymorfní dystrofie · Schlichtingova dystrofie |
| uk | Задня поліморфна дистрофія рогівки | Задня поліморфна дистрофія · PPCD · Дистрофія Шліхтінга |
| zh | 后部多形性角膜营养不良 | 后部多形性营养不良 |
| tr | Posterior polimorföz kornea distrofisi | PPCD · Schlichting distrofisi · Posterior polimorf distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122000 | BTNT | validated | |
| OMIM | 148300 | BTNT | validated | |
| OMIM | 609140 | BTNT | validated | |
| OMIM | 609141 | BTNT | validated | |
| OMIM | 618031 | BTNT | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | LA11.5 | NTBT | index | validated |
| MONDO | 0020364 | E | validated | |
| UMLS | C0339284 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98631Congenital malformation of the eye with glaucoma as a major feature
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:525677Genetic congenital malformation of the eye with glaucoma as a major feature
rare genetic diseases - ORPHA:98627Posterior corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:98975Congenital hereditary endothelial dystrophy type I moved to · inactive
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL8A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2216 | ENSG00000171812 | 120252 | 1p34.3 | collagen type VIII alpha 2 chain | 11689488[PMID] |
| GRHL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2799 | ENSG00000083307 | 608576 | 8q22.3 | grainyhead like transcription factor 2 | 29499165[PMID] |
| OVOL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15804 | ENSG00000125850 | 616441 | 20p11.23 | ovo like zinc finger 2 | 26749309[PMID] |
| VSX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12723 | ENSG00000100987 | 605020 | 20p11.21 | visual system homeobox 1 | 11978762[PMID] |
| ZEB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11642 | ENSG00000148516 | 189909 | 10p11.22 | zinc finger E-box binding homeobox 1 | 23807282[PMID]_25441224[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Czech Republic | Value and class | Validated | 23049806[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
20 annotations · validated 2020-02-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011490 | Abnormal Descemet membrane morphology | |
| HP:0011491 | Reduced number of corneal endothelial cells | |
| Occasional (29-5%) | ||
| HP:0000646 | Amblyopia | |
| HP:0011483 | Anterior synechiae of the anterior chamber | |
| HP:0000483 | Astigmatism | |
| HP:0012040 | Corneal stromal edema | |
| HP:0100692 | Increased corneal curvature | |
| HP:0007663 | Reduced visual acuity | |
| HP:0025358 | Uveal ectropion | |
| HP:0032122 | Very low visual acuity | |
| Very rare (<4-1%) | ||
| HP:0000622 | Blurred vision | |
| HP:0200065 | Chorioretinal degeneration | |
| HP:0007957 | Corneal opacity | |
| HP:0009918 | Ectopia pupillae | |
| HP:0000565 | Esotropia | |
| HP:0000501 | Glaucoma | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0007906 | Ocular hypertension | |
| HP:0200026 | Ocular pain | |
| HP:0000613 | Photophobia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28009792[PMID]_28613630[PMID]_27658681[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98973
- This record as JSON: /data/d/98973.json