Thiemann disease, familial form
Synonyms: Aseptic necrosis of phalangeal epiphyses · Osteochondrosis of phalangeal epiphyses
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent
- Status
- active
A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thiemann disease, familial form | Aseptic necrosis of phalangeal epiphyses · Osteochondrosis of phalangeal epiphyses |
| fr | Maladie de Thiemann familiale | Nécrose aseptique des épiphyses phalangiennes · Ostéochondrite des épiphyses des phalanges · Ostéochondrite des épiphyses phalangiennes |
| de | Thiemann-Krankheit, familiäre Form | Aseptische Osteonekrose der Phalangenepiphysen · Familiäre Osteoarthropathie der Finger · Osteochondrose der Phalangenepiphysen |
| es | Enfermedad de Thiemann forma familiar | Necrosis aséptica de la epífisis de las falanges · Osteocondrosis de la epífisis de las falanges |
| it | Malattia di Thiemann, forma familiare | Necrosi asettica delle epifisi delle falangi · Osteocondrite delle epifisi delle falangi · Osteocondrosi delle epifisi delle falangi |
| nl | Ziekte van Thiemann, familiale vorm | Aseptische necrose van falangeale epifysen · Osteochondrose van falangeale epifysen |
| pt | Doença de Thiemann, forma familiar | Necrose asética das epífises falângicas · Osteocondrose das epífises falângicas |
| pl | Choroba Thiemanna, forma rodzinna | Aseptyczna martwica nasad paliczków · Zapalenie kości i chrząstek nasad paliczków · Zapalenie kości i chrząstek nasad paliczków |
| cs | Thiemannova nemoc, familiární forma | Aseptická nekróza epifýz článků prstů · Osteochondritida epifýz článků prstů · Osteochondróza epifýz článků prstů |
| uk | Хвороба Тімана, сімейна форма | Асептичний некроз епіфізів фаланг пальців · Остеохондроз епіфізів фаланг пальців |
| zh | Thiemann病家族型 | 指骨骨骺无菌性坏死 |
| tr | Thiemann hastalığı, ailesel formu | Falanjiyal epifizlerin osteokondrozu · Falanjiyal epifizlerin aseptik nekrozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 165700 | E | validated | |
| ICD-10 | M92.3 | NTBT | attributed | validated |
| ICD-11 | FB82.1 | NTBT | index | validated |
| MONDO | 0008142 | E | validated | |
| MeSH | C537144 | E | validated | |
| UMLS | C0264081 | E | validated | |
| GARD | 4131 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:399319Osteochondrosis
rare systemic and rheumatological diseases; rare bone diseases - ORPHA:399391Osteochondrosis of genetic origin
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 31248428[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_31248428[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0010885 | Avascular necrosis | |
| Frequent (79-30%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0001376 | Limitation of joint mobility | |
| Occasional (29-5%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3314
- This record as JSON: /data/d/3314.json