ORPHA:98938
Isolated colobomatous microphthalmia
Synonyms: Isolated microphthalmia with colobomatous cyst
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated colobomatous microphthalmia | Isolated microphthalmia with colobomatous cyst |
| fr | Microphtalmie colobomateuse isolée | Microphtalmie isolée avec kyste colobomateux |
| de | Isolierte kolobomatöse Mikrophthalmie | Isolierte Mikrophthalmie mit kolobomatöser Zyste |
| es | Microftalmia colobomatosa aislada | Microftalmia aislada con quistes colobomatosos |
| it | Microftalmia colobomatosa isolata | Microftalmia isolata con cisti colobomatosa |
| nl | Geïsoleerde colobomateuze microftalmie | Geïsoleerde microftalmie met colobomateuze cyste |
| pt | Microftalmia colobomatosa | |
| pl | Małoocze szczelinowate | MAC · Małoocze - bezocze - coloboma · Małoocze z torbielą szczelinową |
| cs | Kolobomatózní mikroftalmie | MAC · Mikroftalmie s kolobomatózní cystou · Syndrom zahrnující mikroftalmii, anoftalmii a kolobom |
| uk | Колобоматозна мікрофтальмія | MAC · Мікрофтальмія з колобоматозною кістою · Синдром мікрофтальмії-анофтальмії-колобоми |
| zh | 缺损性小眼 | 小眼-无眼-眼球缺损综合征 |
| tr | Kolobomatöz mikroftalmi | MAC · Kolobomatöz kistli mikroftalmi · Mikroftalmi-anoftalmi-kolobom sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251505 | BTNT | validated | |
| OMIM | 300345 | E | validated | |
| OMIM | 601186 | NTBT | validated | |
| OMIM | 605738 | BTNT | validated | |
| OMIM | 610092 | BTNT | validated | |
| OMIM | 611638 | BTNT | validated | |
| OMIM | 613703 | BTNT | validated | |
| OMIM | 614497 | BTNT | validated | |
| OMIM | 615145 | BTNT | validated | |
| OMIM | 616428 | BTNT | validated | |
| ICD-10 | Q11.2 | NTBT | attributed | validated |
| ICD-11 | LA10.0 | NTBT | index | validated |
| MONDO | 0000170 | E | validated | |
| MONDO | 170 | E | validated | |
| UMLS | C4255043 | E | validated | |
| GARD | 3644 | 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 (1):
- ORPHA:2542Isolated microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
4
Genes
13 direct · 11 via subtypes| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GDF6 | Candidate gene tested in | Not yet assessed | HGNC:4221 | ENSG00000156466 | 601147 | 8q22.1 | growth differentiation factor 6 | 19864492[PMID] |
| SIX6 | Candidate gene tested in | Not yet assessed | HGNC:10892 | ENSG00000184302 | 606326 | 14q23.1 | SIX homeobox 6 | |
| ABCB6 | Disease-causing germline mutation(s) in | Assessed | HGNC:47 | ENSG00000115657 | 605452 | 2q35 | ATP binding cassette subfamily B member 6 (LAN blood group) | 22226084[PMID] |
| ALDH1A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:409 | ENSG00000184254 | 600463 | 15q26.3 | aldehyde dehydrogenase 1 family member A3 | 23312594[PMID] |
| GDF3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4218 | ENSG00000184344 | 606522 | 12p13.31 | growth differentiation factor 3 | 19864492[PMID] |
| OTX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8522 | ENSG00000165588 | 600037 | 14q22.3 | orthodenticle homeobox 2 | 24033328[PMID] |
| PORCN | Disease-causing germline mutation(s) in | Assessed | HGNC:17652 | ENSG00000102312 | 300651 | Xp11.23 | porcupine O-acyltransferase | 33111437[PMID] |
| RAX | Disease-causing germline mutation(s) in | Assessed | HGNC:18662 | ENSG00000134438 | 601881 | 18q21.32 | retina and anterior neural fold homeobox | 24033328[PMID] |
| RBP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:9922 | ENSG00000138207 | 180250 | 10q23.33 | retinol binding protein 4 | 25910211[PMID] |
| SOX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11195 | ENSG00000181449 | 184429 | 3q26.33 | SRY-box transcription factor 2 | 24033328[PMID] |
| STRA6 | Disease-causing germline mutation(s) in | Assessed | HGNC:30650 | ENSG00000137868 | 610745 | 15q24.1 | signaling receptor and transporter of retinol STRA6 | 21901792[PMID] |
| TENM3 | Disease-causing germline mutation(s) in | Assessed | HGNC:29944 | ENSG00000218336 | 610083 | 4q34.3-q35.1 | teneurin transmembrane protein 3 | 22766609[PMID] |
| VSX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1975 | ENSG00000119614 | 142993 | 14q24.3 | visual system homeobox 2 | 15257456[PMID] |
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SIX6 | ORPHA:35612Isolated complete colobomatous microphthalmia | Candidate gene tested in | Not yet assessed | HGNC:10892 | ENSG00000184302 | 606326 | 14q23.1 | SIX homeobox 6 | |
| ALDH1A3 | ORPHA:35612Isolated complete colobomatous microphthalmia | Disease-causing germline mutation(s) in | Assessed | HGNC:409 | ENSG00000184254 | 600463 | 15q26.3 | aldehyde dehydrogenase 1 family member A3 | 23312594[PMID] |
| BEST1 | ORPHA:35612Isolated complete colobomatous microphthalmia | Disease-causing germline mutation(s) in | Assessed | HGNC:12703 | ENSG00000167995 | 607854 | 11q12.3 | bestrophin 1 | 19375515[PMID] |
| CRB1 | ORPHA:35612Isolated complete colobomatous microphthalmia | Disease-causing germline mutation(s) in | Assessed | HGNC:2343 | ENSG00000134376 | 604210 | 1q31.3 | crumbs cell polarity complex component 1 | 19375515[PMID] |
| MFRP | ORPHA:35612Isolated complete colobomatous microphthalmia | Disease-causing germline mutation(s) in | Assessed | HGNC:18121 | ENSG00000235718 | 606227 | 11q23.3 | membrane frizzled-related protein | 15976030[PMID] |
| OTX2 | ORPHA:35612Isolated complete colobomatous microphthalmia | Disease-causing germline mutation(s) in | Assessed | HGNC:8522 | ENSG00000165588 | 600037 | 14q22.3 | orthodenticle homeobox 2 | 24033328[PMID] |
| PRSS56 | ORPHA:35612Isolated complete colobomatous microphthalmia | Disease-causing germline mutation(s) in | Assessed | HGNC:39433 | ENSG00000237412 | 613858 | 2q37.1 | serine protease 56 | 21850159[PMID] |
| RAX | ORPHA:35612Isolated complete colobomatous microphthalmia | Disease-causing germline mutation(s) in | Assessed | HGNC:18662 | ENSG00000134438 | 601881 | 18q21.32 | retina and anterior neural fold homeobox | 24033328[PMID] |
| SHH | ORPHA:730721Isolated partial colobomatous microphthalmia | Disease-causing germline mutation(s) in | Assessed | HGNC:10848 | ENSG00000164690 | 600725 | 7q36.3 | sonic hedgehog signaling molecule | 12503095[PMID] |
| SOX2 | ORPHA:35612Isolated complete colobomatous microphthalmia | Disease-causing germline mutation(s) in | Assessed | HGNC:11195 | ENSG00000181449 | 184429 | 3q26.33 | SRY-box transcription factor 2 | 24033328[PMID] |
| TMEM98 | ORPHA:35612Isolated complete colobomatous microphthalmia | Disease-causing germline mutation(s) in | Assessed | HGNC:24529 | ENSG00000006042 | 615949 | 17q11.2 | transmembrane protein 98 | 24852644[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 19 / 100 000 | United Kingdom | Value and class | Validated | 11826019[PMID] |
| Point prevalence | 1-5 / 10 000 | 19 / 100 000 | United Kingdom | Value and class | Validated | 11826019[PMID]_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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98938
- This record as JSON: /data/d/98938.json