Gelatinous drop-like corneal dystrophy
Synonyms: GDCD · Primary familial amyloidosis of the cornea · Subepithelial amyloidosis of the cornea
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gelatinous drop-like corneal dystrophy | GDCD · Primary familial amyloidosis of the cornea · Subepithelial amyloidosis of the cornea |
| fr | Dystrophie cornéenne gélatineuse en goutte | Amylose primitive familiale de la cornée · Amylose sous-épithéliale de la cornée · Dystrophie amyloîde gélatineuse · GDCD |
| de | Hornhautdystrophie, gelatinöse tropfenförmige | Amyloidose der Hornhaut, familiäre primäre · Amyloidose der Hornhaut, subepitheliale · GDLD |
| es | Distrofia corneal gelatinosa en gotas | Amiloidosis familiar primaria de la córnea · Amiloidosis subepitelial de la córnea · GDCD |
| it | Distrofia corneale gelatinosa a goccia | Amiloidosi familiare primitiva della cornea · Amiloidosi subepiteliale della cornea · GDCD |
| nl | Gelatineuze druppelachtige corneadystrofie | GDCD · Gelatineuze druppelachtige hoornvliesdystrofie · Primaire familiale amyloïdose van het hoornvlies · Subepitheliale amyloïdose van het hoornvlies |
| pt | Distrofia corneana, gelatinosa em gota | |
| pl | Dystrofia rogówki przypominająca kroplę żelatyny | GDCD · Pierwotna rodzinna amyloidoza rogówki · Podnabłonkowa amyloidoza rogówki |
| cs | Želatinózní kapkovitá korneální dystrofie | GDCD · Primární familiární amyloidóza rohovky · Subepiteliální amyloidóza rohovky |
| uk | Желатинозна краплеподібна дистрофія рогівки | GDCD · Первинний сімейний амілоїдоз рогівки · Субепітеліальний амілоїдоз рогівки |
| zh | 凝胶状滴状角膜变性 | 原发性家族性角膜淀粉样变性 |
| tr | Jelatinöz damla benzeri kornea distrofisi | GDCD · Korneanın subepitelyal amiloidozu · Korneanın primer ailesel amiloidozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 204870 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0008777 | E | validated | |
| MeSH | C535480 | E | validated | |
| UMLS | C0339273 | E | validated | |
| GARD | 9647 | 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:522562Genetic superficial corneal dystrophy
rare genetic diseases - ORPHA:98625Superficial corneal dystrophy
rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TACSTD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11530 | ENSG00000184292 | 137290 | 1p32.1 | tumor associated calcium signal transducer 2 | 20454699[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.33 / 100 000 | Japan | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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.
HPO phenotypes
11 annotations · validated 2023-03-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000622 | Blurred vision | |
| HP:0000613 | Photophobia | |
| Frequent (79-30%) | ||
| HP:0000643 | Blepharospasm | |
| HP:0010637 | Conjunctival amyloidosis | |
| HP:0034804 | Corneal foreign body sensation | |
| HP:0011496 | Corneal neovascularization | |
| HP:0009926 | Epiphora | |
| HP:0200026 | Ocular pain | |
| HP:0007663 | Reduced visual acuity | |
| HP:0008039 | Subepithelial corneal opacities | |
| Occasional (29-5%) | ||
| HP:0011493 | Central opacification of the cornea | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 27227392[PMID]_27913443[PMID]_32659838[PMID]_19236704[PMID]_25455555[PMID]_15183793[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98957
- This record as JSON: /data/d/98957.json