ORPHA:2510
Micro syndrome
Synonyms: WARBM · Warburg micro syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare neurodevelopmental disorder characterized by severe intellectual disability, progressive spasticity, postnatal microcephaly, and ocular abnormalities, including congenital cataracts, microphthalmia, and optic atrophy. Other frequent findings are hypothalamic hypogonadism and brain malformations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Micro syndrome | WARBM · Warburg micro syndrome |
| fr | Syndrome micro | Syndrome micro-Warburg · WARBM |
| de | Mikro-Syndrom | WARBM · Warburg-Mikro-Syndrom |
| es | Síndrome Micro | |
| it | Sindrome Micro | Sindrome di Warburg-Sjo-Fledelius |
| nl | Microsyndroom | WARBM1 · Warburg-microsyndroom |
| pt | Síndrome Micro | Síndrome Warburg-Sjo-Fledelius |
| pl | Zespół micro | WARBM1 · Zespół Warburg Micro |
| cs | Mikro syndrom | WARBM · Warburgův mikro syndrom |
| uk | Мікро синдром | WARBM · Мікросиндром Варбурга |
| zh | Micro综合征 | Warburg micro综合征 |
| tr | Mikro sendrom | WARBM · Warburg mikro sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600118 | E | validated | |
| OMIM | 614222 | BTNT | validated | |
| OMIM | 614225 | BTNT | validated | |
| OMIM | 615663 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0016649 | E | validated | |
| UMLS | C5442005 | E | validated | |
| GARD | 5534 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102010Other syndrome with lissencephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2895Pinsky-Di George-Harley syndrome moved to · inactive
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RAB18 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:14244 | ENSG00000099246 | 602207 | 10p12.1 | RAB18, member RAS oncogene family | 23420520[PMID] |
| RAB3GAP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17063 | ENSG00000115839 | 602536 | 2q21.3 | RAB3 GTPase activating protein catalytic subunit 1 | 23420520[PMID] |
| RAB3GAP2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17168 | ENSG00000118873 | 609275 | 1q41 | RAB3 GTPase activating non-catalytic protein subunit 2 | 23420520[PMID] |
| TBC1D20 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16133 | ENSG00000125875 | 611663 | 20p13 | TBC1 domain family member 20 | 24239381[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 203 cases | Worldwide | Case(s) | Validated | 23420520[PMID]_24239381[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
42 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000518 | Cataract | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0000823 | Delayed puberty | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001387 | Joint stiffness | |
| HP:0001339 | Lissencephaly | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0000568 | Microphthalmia | |
| HP:0000648 | Optic atrophy | |
| HP:0001302 | Pachygyria | |
| HP:0003196 | Short nose | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000060 | Clitoral hypoplasia | |
| HP:0002230 | Generalized hirsutism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000064 | Hypoplastic labia minora | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002808 | Kyphosis | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0100542 | Abnormal localization of kidney | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0000126 | Hydronephrosis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000480 | Retinal coloboma | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2510
- This record as JSON: /data/d/2510.json