Deutsch
IllnessCorneal disorders, except for dystrophies; differentialdiagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Corneal disorders (except for dystrophies) comprising 14 or 22 curated genes according to the clinical signs
ID
HP5536
Number of loci
| Loci type | Count |
|---|---|
| Gen | 19 |
Examined sequence length
31,6 kb (Core-/Core-canditate-Genes)
48,0 kb (Extended panel: incl. additional genes)
48,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[[Sanger]]
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| ADAMTS18 | 3666 | NM_199355.4 | AR | |
| B3GLCT | 1497 | NM_194318.4 | AR | |
| CHRDL1 | 1377 | NM_001143981.2 | XLR | |
| GJA1 | 1149 | NM_000165.5 | AD, AR | |
| HMX1 | 1047 | NM_018942.3 | AR | |
| KERA | 1059 | NM_007035.4 | AR | |
| LTBP2 | 5466 | NM_000428.3 | AR | |
| PITX2 | 816 | NM_153427.2 | AD | |
| RAB18 | 621 | NM_021252.5 | AR | |
| RAB3GAP1 | 2946 | NM_012233.3 | AR | |
| ZNF469 | 11862 | NM_001367624.2 | AR | |
| ALDH18A1 | 2388 | NM_002860.4 | AD, AR | |
| GSN | 2349 | NM_000177.5 | AD | |
| MAF | 1212 | NM_005360.5 | AD | |
| PIK3R1 | 2175 | NM_181523.3 | AD | |
| PRDM5 | 1893 | NM_018699.4 | AR | |
| RAB3GAP2 | 4182 | NM_012414.4 | AR | |
| SLC16A12 | 1551 | NM_213606.4 | AD | |
| VSX1 | 711 | NM_001256271.2 | AD |
Informations about the disease
Clinical Comment
Group of heterogenous genetic diseases
Synonyms
- Alias: Rare genetic corneal disorders, except for dystrophies
- Allelic: Ectodermal dysplasia 15, hypohidrotic/hair type (CST6)
- Allelic: Glaucoma 3, primary congenital, D (LTBP2)
- Allelic: Immunodeficiency 36 (PIK3R1)
- Allelic: Martsolf syndrome (RAB3GAP2)
- Allelic: Weill-Marchesani syndrome 3, AR (LTBP2)
- Amyloidosis, Finnish type (GSN)
- Anterior segment dysgenesis 4 (PITX2)
- Anterior segment dysgenesis 5, multiple subtypes (PAX6)
- Axenfeld-Rieger syndrome, type 1 (PITX2)
- Brittle cornea syndrome 1 (ZNF469)
- Brittle cornea syndrome 2 (PRDM5)
- Cataract 47, juvenile, with microcornea (SLC16A12)
- Cornea plana 2, AR (KERA)
- Keratitis (PAX6)
- Macular corneal dystrophy (CST6)
- Megalocornea 1, X-linked (CHRDL1)
- Microcornea, myopic chorioretinal atrophy, telecanthus (ADAMTS18)
- Microspherophakia and/or megalocornea, with ectopia lentis + with/-out secondary glaucoma (LTBP2)
- Oculoauricular syndrome (HMX1)
- Peters-plus syndrome (B3GLCT)
- Ring dermoid of cornea (PITX2)
- SHORT syndrome (PIK3R1)
- Warburg micro syndrome 1 (RAB3GAP1)
- Warburg micro syndrome 2 (RAB3GAP2)
- Warburg micro syndrome 3 (RAB18)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined