ORPHA:1782
Dysosteosclerosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysosteosclerosis | |
| fr | Dysostéosclérose | |
| de | Dysosteosklerose | |
| es | Disosteoesclerosis | |
| it | Disostosclerosi | |
| nl | Dysosteosclerose | |
| pt | Disosteosclerose | |
| pl | Dysosteoskleroza | |
| cs | Dysosteoskleróza | |
| uk | Дизостеосклероз | |
| zh | 骨硬化性发育不全 | |
| tr | Disosteoskleroz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 224300 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0009138 | E | validated | |
| MeSH | C562973 | E | validated | |
| UMLS | C0432262 | E | validated | |
| GARD | 2012 | 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:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC29A3 | Disease-causing germline mutation(s) in | Not yet assessed | HGNC:23096 | ENSG00000198246 | 612373 | 10q22.1 | solute carrier family 29 member 3 | |
| TCIRG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11647 | ENSG00000110719 | 604592 | 11q13.2 | T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | 30537558[PMID] |
| TNFRSF11A | Disease-causing germline mutation(s) in | Assessed | HGNC:11908 | ENSG00000141655 | 603499 | 18q21.33 | TNF receptor superfamily member 11a | 29568001[PMID]_31163101[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 23 cases | Worldwide | Case(s) | Validated | 20499338[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 20499338[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.
6
HPO phenotypes
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0002514 | Cerebral calcification | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002376 | Developmental regression | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0008479 | Hypoplastic vertebral bodies | |
| HP:0011001 | Increased bone mineral density | |
| HP:0001249 | Intellectual disability | |
| HP:0003301 | Irregular vertebral endplates | |
| HP:0000256 | Macrocephaly | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000926 | Platyspondyly | |
| HP:0002757 | Recurrent fractures | |
| HP:0100670 | Rough bone trabeculation | |
| HP:0004322 | Short stature | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
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/1782
- This record as JSON: /data/d/1782.json