ORPHA:85179
Infantile osteopetrosis with neuroaxonal dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Infantile osteopetrosis with neuroaxonal dysplasia | |
| fr | Ostéopétrose infantile avec dysplasie neuroaxonale | |
| de | Osteopetrose mit neuroaxonaler Dysplasie, infantile Form | |
| es | Osteopetrosis del lactante con displasia neuroaxonal | |
| it | Osteopetrosi con displasia neuroassonale, forma infantile | |
| nl | Infantiele osteopetrose met neuroaxonale dysplasie | |
| pt | Osteopetrose com displasia neuroaxonal, forma da infância | |
| pl | Osteopetroza młodzieńcza z dysplazją neuroaksonalną | |
| cs | Infantilní osteopetróza s neuroaxonální dysplázií | |
| uk | Дитячий остеопетроз з нейроаксональною дисплазією | |
| zh | 婴儿型骨硬化症伴神经轴突发育不全 | |
| tr | Nöroaksonal displazi ile seyreden infantil osteopetroz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600329 | E | validated | |
| ICD-10 | Q78.2 | NTBT | attributed | validated |
| ICD-11 | LD24.10 | NTBT | index | validated |
| MONDO | 0010866 | E | validated | |
| UMLS | C4510764 | E | validated | |
| GARD | 10082 | 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 (2):
- ORPHA:728475Inherited bone marrow failure disorder with immune defect
rare genetic diseases; rare immunological diseases - ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BORCS5 | Disease-causing germline mutation(s) in | Assessed | HGNC:17950 | ENSG00000165714 | 616598 | 12p13.2 | BLOC-1 related complex subunit 5 | 40621786[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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.
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HPO phenotypes
15 annotations · validated 2019-06-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012447 | Abnormal myelination | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0012444 | Brain atrophy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0001263 | Global developmental delay | |
| HP:0025517 | Hypoplastic hippocampus | |
| HP:0004330 | Increased skull ossification | |
| HP:0001338 | Partial agenesis of the corpus callosum | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001250 | Seizure | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000405 | Conductive hearing impairment | |
| HP:0025116 | Fetal distress | |
| HP:0002090 | Pneumonia | |
Annotation source: 28655174[PMID]_7577667[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85179
- This record as JSON: /data/d/85179.json