ORPHA:35612
Isolated complete colobomatous microphthalmia
Synonyms: Nanophthalmos · Nanophthalmia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated complete colobomatous microphthalmia | Nanophthalmos · Nanophthalmia |
| fr | Microphtalmie colobomateuse isolée complète | Nanophtalmie |
| de | Isolierte vollständige kolobomatöse Mikrophthalmie | Nanophthalmie · Nanophthalmus |
| es | Microftalmia colobomatosa completa aislada | Nanoftalmia · Nanoftalmos |
| it | Microftalmia colobomatosa completa isolata | Nanoftalmia · Nanoftalmo |
| nl | Geïsoleerde complete colobomateuze microftalmie | Nanoftalmie · Nanophthalmos |
| pt | Nanoftalmia | |
| pl | Nanoftalmia | = en |
| cs | Nanoftalmie | = en |
| uk | Нанофтальмос | Наноофтальмія |
| zh | 真性小眼球 | 小眼症 |
| tr | Nanoftalmus | Nanoftalmi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600165 | BTNT | validated | |
| OMIM | 609549 | BTNT | validated | |
| OMIM | 611897 | BTNT | validated | |
| OMIM | 613517 | BTNT | validated | |
| OMIM | 615972 | BTNT | validated | |
| ICD-10 | Q11.2 | E | specific | validated |
| ICD-11 | LA10.0 | NTBT | index | validated |
| MONDO | 0005514 | E | validated | |
| UMLS | C4274282 | 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 (2):
- ORPHA:98631Congenital malformation of the eye with glaucoma as a major feature
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:98938Isolated colobomatous microphthalmia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SIX6 | Candidate gene tested in | Not yet assessed | HGNC:10892 | ENSG00000184302 | 606326 | 14q23.1 | SIX homeobox 6 | |
| ALDH1A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:409 | ENSG00000184254 | 600463 | 15q26.3 | aldehyde dehydrogenase 1 family member A3 | 23312594[PMID] |
| BEST1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12703 | ENSG00000167995 | 607854 | 11q12.3 | bestrophin 1 | 19375515[PMID] |
| CRB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2343 | ENSG00000134376 | 604210 | 1q31.3 | crumbs cell polarity complex component 1 | 19375515[PMID] |
| MFRP | Disease-causing germline mutation(s) in | Assessed | HGNC:18121 | ENSG00000235718 | 606227 | 11q23.3 | membrane frizzled-related protein | 15976030[PMID] |
| OTX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8522 | ENSG00000165588 | 600037 | 14q22.3 | orthodenticle homeobox 2 | 24033328[PMID] |
| PRSS56 | Disease-causing germline mutation(s) in | Assessed | HGNC:39433 | ENSG00000237412 | 613858 | 2q37.1 | serine protease 56 | 21850159[PMID] |
| RAX | Disease-causing germline mutation(s) in | Assessed | HGNC:18662 | ENSG00000134438 | 601881 | 18q21.32 | retina and anterior neural fold homeobox | 24033328[PMID] |
| SOX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11195 | ENSG00000181449 | 184429 | 3q26.33 | SRY-box transcription factor 2 | 24033328[PMID] |
| TMEM98 | Disease-causing germline mutation(s) in | Assessed | HGNC:24529 | ENSG00000006042 | 615949 | 17q11.2 | transmembrane protein 98 | 24852644[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
6
HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000610 | Abnormal choroid morphology | |
| HP:0000501 | Glaucoma | |
| HP:0008499 | High hypermetropia | |
| HP:0000568 | Microphthalmia | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
Run the differential on the 5 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35612
- This record as JSON: /data/d/35612.json