ORPHA:1328
Camurati-Engelmann disease
Synonyms: Progressive diaphyseal dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Camurati-Engelmann disease | Progressive diaphyseal dysplasia |
| fr | Maladie de Camurati-Engelmann | Dysplasie diaphysaire progressive |
| de | Camurati-Engelmann-Syndrom | Camurati-Engelmann-Krankheit · Dysplasie, diaphysäre progressive |
| es | Síndrome de Camurati-Engelmann | |
| it | Sindrome di Camurati-Engelmann | Displasia diafisaria progressiva |
| nl | Ziekte van Camurati-Engelmann | Progressieve diafysaire dysplasie |
| pt | Doença de Camurati-Engelmann | Displasia diafisária progressiva |
| pl | Choroba Camuratiego i Engelmanna | Dysplazja przynasadowa postępująca |
| cs | Camuratiho-Engelmannova choroba | Diafyzární progresivní dysplázie · Camurati-Engelmannova choroba |
| uk | Хвороба Камураті-Енгельмана | Прогресуюча діафізарна дисплазія |
| zh | 进行性骨干发育不良 | 进行性骨干发育不良 |
| tr | Camurati-Engelmann hastalığı | İlerleyici diyafiz displazisi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 131300 | E | validated | |
| ICD-10 | Q78.3 | E | specific | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0007542 | E | validated | |
| MeSH | D003966 | E | validated | |
| UMLS | C0011989 | E | validated | |
| GARD | 1072 | E | validated | |
| MedDRA | 10087147 | 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 (1):
- ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TGFB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11766 | ENSG00000105329 | 190180 | 19q13.2 | transforming growth factor beta 1 | 20301335[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | 20301335[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
54 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0031095 | Abnormal humerus morphology | |
| HP:0002818 | Abnormal morphology of the radius | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0002653 | Bone pain | |
| HP:0004326 | Cachexia | |
| HP:0005791 | Cortical thickening of long bone diaphyses | |
| HP:0005464 | Craniofacial osteosclerosis | |
| HP:0012544 | Elevated circulating aldolase concentration | |
| HP:0100774 | Hyperostosis | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0100255 | Metaphyseal dysplasia | |
| HP:0001324 | Muscle weakness | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001903 | Anemia | |
| HP:0002039 | Anorexia | |
| HP:0001251 | Ataxia | |
| HP:0000670 | Carious teeth | |
| HP:0002673 | Coxa valga | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000823 | Delayed puberty | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0010628 | Facial palsy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002007 | Frontal bossing | |
| HP:0002857 | Genu valgum | |
| HP:0000501 | Glaucoma | |
| HP:0000365 | Hearing impairment | |
| HP:0002240 | Hepatomegaly | |
| HP:0003307 | Hyperlordosis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0000135 | Hypogonadism | |
| HP:0002808 | Kyphosis | |
| HP:0001882 | Leukopenia | |
| HP:0000648 | Optic atrophy | |
| HP:0007807 | Optic nerve compression | |
| HP:0001763 | Pes planus | |
| HP:0000520 | Proptosis | |
| HP:0002650 | Scoliosis | |
| HP:0000763 | Sensory neuropathy | |
| HP:0001533 | Slender build | |
| HP:0001744 | Splenomegaly | |
| HP:0000016 | Urinary retention | |
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/1328
- This record as JSON: /data/d/1328.json