Microphthalmia, Lenz type
Synonyms: Lenz microphthalmia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microphthalmia, Lenz type | Lenz microphthalmia |
| fr | Microphtalmie type Lenz | Microphtalmie de Lenz |
| de | Mikrophthalmie Typ Lenz | Lenz-Mikrophthalmie |
| es | Microftalmia tipo Lenz | Microftalmia de Lenz |
| it | Microftalmia, tipo Lenz | Microftalmia di Lenz |
| nl | Microftalmie, Lenz-type | Lenz microftalmie · Syndromale microftalmie type 1 |
| pt | Microftalmia, tipo Lenz | Microftalmia de Lenz |
| pl | Mikroftalmia typu Lenza | Mikroftalmia Lenza |
| cs | Mikroftalmie, Lenzův typ | Lenzova mikroftalmie |
| uk | Мікрофтальмія, тип Ленца | Мікрофтальмія Ленца |
| zh | 小眼畸形，Lenz型 | Lenz小眼畸形 |
| tr | Mikroftalmi, Lenz tipi | Lenz mikroftalmisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300166 | NTBT | validated | |
| OMIM | 309800 | BTNT | validated | |
| ICD-10 | Q11.2 | NTBT | attributed | validated |
| ICD-11 | LD21.0 | NTBT | index | validated |
| MONDO | 0018924 | E | validated | |
| MeSH | C537464 | E | validated | |
| UMLS | C0796016 | E | validated | |
| GARD | 87 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:98655Lens shape anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCOR | Disease-causing germline mutation(s) in | Assessed | HGNC:20893 | ENSG00000183337 | 300485 | Xp11.4 | BCL6 corepressor | 20301694[PMID]_15004558[PMID] |
| NAA10 | Disease-causing germline mutation(s) in | Assessed | HGNC:18704 | ENSG00000102030 | 300013 | Xq28 | N-alpha-acetyltransferase 10, NatA catalytic subunit | 24431331[PMID] |
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.
HPO phenotypes
42 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000568 | Microphthalmia | |
| Frequent (79-30%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0009943 | Complete duplication of thumb phalanx | |
| HP:0000028 | Cryptorchidism | |
| HP:0006101 | Finger syndactyly | |
| HP:0000501 | Glaucoma | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0000612 | Iris coloboma | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0000588 | Optic disc coloboma | |
| HP:0000202 | Orofacial cleft | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0009755 | Ankyloblepharon | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000518 | Cataract | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000365 | Hearing impairment | |
| HP:0003307 | Hyperlordosis | |
| HP:0002808 | Kyphosis | |
| HP:0100818 | Long thorax | |
| HP:0000639 | Nystagmus | |
| HP:0000384 | Preauricular skin tag | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000505 | Visual impairment | |
| HP:0000465 | Webbed neck | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/568
- This record as JSON: /data/d/568.json