ORPHA:65
Leber congenital amaurosis
Synonyms: Amaurosis congenita of Leber
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leber congenital amaurosis | Amaurosis congenita of Leber |
| fr | Amaurose congénitale de Leber | |
| de | Amaurosis congenita Leber | Lebersche kongenitale Amaurose |
| es | Amaurosis congénita de Leber | |
| it | Amaurosi congenita di Leber | |
| nl | Congenitale amaurose van Leber | Amaurosis congenita van Leber |
| pt | Amaurose congénita Leber | |
| pl | Wrodzona ślepota Lebera | Wrodzone zaniewidzenie Lebera |
| cs | Leberova vrozená amauróza | = en |
| uk | Вроджений амавроз Лебера | Вроджений амавроз Лебера |
| zh | Leber先天性黑矇 | Leber先天性黒矇 |
| tr | Leber doğumsal amorozu | Amaurosis, Leber'in konjeniti |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 179900 | BTNT | validated | |
| OMIM | 204000 | E | validated | |
| OMIM | 204100 | BTNT | validated | |
| OMIM | 604232 | BTNT | validated | |
| OMIM | 604393 | BTNT | validated | |
| OMIM | 604537 | BTNT | validated | |
| OMIM | 608133 | NTBT | validated | |
| OMIM | 608553 | BTNT | validated | |
| OMIM | 610125 | NTBT | validated | |
| OMIM | 610612 | BTNT | validated | |
| OMIM | 611755 | BTNT | validated | |
| OMIM | 612712 | BTNT | validated | |
| OMIM | 613341 | BTNT | validated | |
| OMIM | 613826 | BTNT | validated | |
| OMIM | 613829 | BTNT | validated | |
| OMIM | 613835 | BTNT | validated | |
| OMIM | 613837 | BTNT | validated | |
| OMIM | 613843 | BTNT | validated | |
| OMIM | 614186 | NTBT | validated | |
| OMIM | 615360 | BTNT | validated | |
| OMIM | 617879 | BTNT | validated | |
| OMIM | 618513 | BTNT | validated | |
| ICD-10 | H35.5 | NTBT | index | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0018998 | E | validated | |
| MeSH | D057130 | E | validated | |
| UMLS | C0339527 | E | validated | |
| GARD | 634 | E | validated | |
| MedDRA | 10070667 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:717324Rare genetic isolated progressive generalized retinal disorder
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:156174Retinal ciliopathy due to mutation in the RPGRIP gene
rare genetic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:98622Syndromic hyperopia
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
26 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GUCY2D | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4689 | ENSG00000132518 | 600179 | 17p13.1 | guanylate cyclase 2D, retinal | 25685757[PMID]_20301475[PMID] |
| IQCB1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28949 | ENSG00000173226 | 609237 | 3q13.33 | IQ motif containing B1 | 20881296[PMID]_21901789[PMID] |
| PCYT1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8754 | ENSG00000161217 | 123695 | 3q29 | phosphate cytidylyltransferase 1A, choline | 28272537[PMID] |
| RDH12 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19977 | ENSG00000139988 | 608830 | 14q24.1 | retinol dehydrogenase 12 | 15322982[PMID]_25685757[PMID]_20301475[PMID] |
| RPGRIP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13436 | ENSG00000092200 | 605446 | 14q11.2 | RPGR interacting protein 1 | 11528500[PMID]_25685757[PMID]_20301475[PMID] |
| AIPL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:359 | ENSG00000129221 | 604392 | 17p13.2 | AIP like 1 HSP90 co-chaperone | 25685757[PMID]_20301475[PMID] |
| ALMS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:428 | ENSG00000116127 | 606844 | 2p13.1 | ALMS1 centrosome and basal body associated protein | 26061163[PMID] |
| CABP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:1386 | ENSG00000175544 | 608965 | 11q13.2 | calcium binding protein 4 | 26061163[PMID] |
| CEP290 | Disease-causing germline mutation(s) in | Assessed | HGNC:29021 | ENSG00000198707 | 610142 | 12q21.32 | centrosomal protein 290 | 25685757[PMID]_20301475[PMID] |
| CRB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2343 | ENSG00000134376 | 604210 | 1q31.3 | crumbs cell polarity complex component 1 | 25685757[PMID]_20301475[PMID] |
| CRX | Disease-causing germline mutation(s) in | Assessed | HGNC:2383 | ENSG00000105392 | 602225 | 19q13.33 | cone-rod homeobox | 9931337[PMID]_25685757[PMID]_20301475[PMID] |
| GDF6 | Disease-causing germline mutation(s) in | Assessed | HGNC:4221 | ENSG00000156466 | 601147 | 8q22.1 | growth differentiation factor 6 | 23307924[PMID]_25685757[PMID] |
| IFT140 | Disease-causing germline mutation(s) in | Assessed | HGNC:29077 | ENSG00000187535 | 614620 | 16p13.3 | intraflagellar transport 140 | 26216056[PMID] |
| IMPDH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6052 | ENSG00000106348 | 146690 | 7q32.1 | inosine monophosphate dehydrogenase 1 | 16384941[PMID]_25685757[PMID]_20301475[PMID] |
| KCNJ13 | Disease-causing germline mutation(s) in | Assessed | HGNC:6259 | ENSG00000115474 | 603208 | 2q37.1 | potassium inwardly rectifying channel subfamily J member 13 | 21763485[PMID]_25685757[PMID]_20301475[PMID] |
| LCA5 | Disease-causing germline mutation(s) in | Assessed | HGNC:31923 | ENSG00000135338 | 611408 | 6q14.1 | lebercilin LCA5 | 17546029[PMID]_25685757[PMID]_20301475[PMID] |
| LRAT | Disease-causing germline mutation(s) in | Assessed | HGNC:6685 | ENSG00000121207 | 604863 | 4q32.1 | lecithin retinol acyltransferase | 17011878[PMID]_25685757[PMID]_20301475[PMID] |
| NMNAT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17877 | ENSG00000173614 | 608700 | 1p36.22 | nicotinamide nucleotide adenylyltransferase 1 | 22842227[PMID]_25685757[PMID]_20301475[PMID] |
| OTX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8522 | ENSG00000165588 | 600037 | 14q22.3 | orthodenticle homeobox 2 | 40294858[PMID] |
| PRPH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9942 | ENSG00000112619 | 179605 | 6p21.1 | peripherin 2 | 23847139[PMID] |
| RD3 | Disease-causing germline mutation(s) in | Assessed | HGNC:19689 | ENSG00000198570 | 180040 | 1q32.3 | RD3 regulator of GUCY2D | 17186464[PMID]_25685757[PMID]_20301475[PMID] |
| RPE65 | Disease-causing germline mutation(s) in | Assessed | HGNC:10294 | ENSG00000116745 | 180069 | 1p31.3 | retinoid isomerohydrolase RPE65 | 25495949[PMID]_25685757[PMID]_20301475[PMID] |
| SPATA7 | Disease-causing germline mutation(s) in | Assessed | HGNC:20423 | ENSG00000042317 | 609868 | 14q31.3 | spermatogenesis associated 7 | 19268277[PMID]_25685757[PMID]_20301475[PMID] |
| TUBB4B | Disease-causing germline mutation(s) in | Assessed | HGNC:20771 | ENSG00000188229 | 602660 | 9q34.3 | tubulin beta 4B class IVb | 35240325[PMID] |
| TULP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12423 | ENSG00000112041 | 602280 | 6p21.31 | TUB like protein 1 | 17962469[PMID]_25685757[PMID]_20301475[PMID] |
| USP45 | Disease-causing germline mutation(s) in | Assessed | HGNC:20080 | ENSG00000123552 | 618439 | 6q16.2 | ubiquitin specific peptidase 45 | 30573563[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | European Medicines Agency 2015[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 2.5 / 100 000 | Worldwide | Value and class | Not yet validated | 20301475[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.23 / 100 000 | United States | Value and class | Validated | 17964524[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | Worldwide | Value and class | Validated | ORPHANET_[EXPERT]_20301475[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
25 annotations · validated 2024-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0012795 | Abnormality of the optic disc | |
| HP:0001141 | Severely reduced visual acuity | |
| Frequent (79-30%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0030466 | Abnormal full-field electroretinogram | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | |
| HP:0000518 | Cataract | |
| HP:0002084 | Encephalocele | |
| HP:0001483 | Eye poking | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0000540 | Hypermetropia | |
| HP:0001252 | Hypotonia | |
| HP:0000563 | Keratoconus | |
| HP:0000639 | Nystagmus | |
| HP:0000613 | Photophobia | |
| HP:0001250 | Seizure | |
| HP:0030211 | Slow pupillary light response | |
| Occasional (29-5%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| HP:0012426 | Optic disc drusen | |
| HP:0000543 | Optic disc pallor | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30285347[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65
- This record as JSON: /data/d/65.json