ORPHA:763
Pycnodysostosis
Synonyms: Pyknodysostosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pycnodysostosis | Pyknodysostosis |
| fr | Pycnodysostose | |
| de | Pyknodysostose | |
| es | Picnodisostosis | |
| it | Picnodisostosi | |
| nl | Pycnodysostose | = en |
| pt | Picnodisostose | |
| pl | Pyknodyzostoza | = en |
| cs | Pyknodysostóza | = en |
| uk | Пікнодизостоз | Пікнодизостоз |
| zh | 致密性成骨不全症 | 致密性成骨不全症 |
| tr | Piknodizostoz | Piknodiyostoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265800 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | 5C56.Y | NTBT | index | validated |
| MONDO | 0009940 | E | validated | |
| MeSH | D058631 | E | validated | |
| UMLS | C0238402 | E | validated | |
| GARD | 4611 | E | validated | |
| MedDRA | 10082973 | 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 (3):
- ORPHA:68366Lysosomal disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTSK | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2536 | ENSG00000143387 | 601105 | 1q21.3 | cathepsin K | 21569238[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 100 000 | Worldwide | Value and class | Not yet validated | 21569238[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | [EXPERT] |
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
66 annotations · validated 2021-10-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0005906 | Delayed pneumatization of the mastoid process | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0002007 | Frontal bossing | |
| HP:0011001 | Increased bone mineral density | |
| HP:0005446 | Obtuse angle of mandible | |
| HP:0009839 | Osteolytic defects of the distal phalanges of the hand | |
| HP:0004474 | Persistent open anterior fontanelle | |
| Frequent (79-30%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000592 | Blue sclerae | |
| HP:0012532 | Chronic pain | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0005789 | Generalized osteosclerosis | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0008598 | Mild conductive hearing impairment | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000448 | Prominent nose | |
| HP:0000520 | Proptosis | |
| HP:0009381 | Short finger | |
| HP:0001773 | Short foot | |
| HP:0200055 | Small hand | |
| Occasional (29-5%) | ||
| HP:0000889 | Abnormality of the clavicle | |
| HP:0010884 | Acromelia | |
| HP:0000670 | Carious teeth | |
| HP:0000696 | Delayed eruption of permanent teeth | |
| HP:0000680 | Delayed eruption of primary teeth | |
| HP:0000689 | Dental malocclusion | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000218 | High palate | |
| HP:0000668 | Hypodontia | |
| HP:0002866 | Hypoplastic iliac wing | |
| HP:0001601 | Laryngomalacia | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0003027 | Mesomelia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0002164 | Nail dysplasia | |
| HP:0025502 | Overweight | |
| HP:0006335 | Persistence of primary teeth | |
| HP:0008905 | Rhizomelia | |
| HP:0001807 | Ridged nail | |
| HP:0002650 | Scoliosis | |
| HP:0003302 | Spondylolisthesis | |
| HP:0003304 | Spondylolysis | |
| HP:0010307 | Stridor | |
| HP:0002645 | Wormian bones | |
| Very rare (<4-1%) | ||
| HP:0000539 | Abnormality of refraction | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0007266 | Cerebral dysmyelination | |
| HP:0002308 | Chiari malformation | |
| HP:0004440 | Coronal craniosynostosis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0003307 | Hyperlordosis | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0001382 | Joint hypermobility | |
| HP:0002808 | Kyphosis | |
| HP:0000774 | Narrow chest | |
| HP:0000486 | Strabismus | |
| HP:0002493 | Upper motor neuron dysfunction | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 33151655[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/763
- This record as JSON: /data/d/763.json