Thiemann disease, familial form
diseaseOn this page
Also known as aseptic necrosis of phalangeal epiphysesosteoarthropathy of fingers familialosteochondritis of phalangeal epiphysesOsteochondrosis of phalangeal epiphysesThiemann's disease
Summary
Thiemann disease, familial form (MONDO:0008142) is a disease. A subtype of osteochondrosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 5
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 33 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
5 HPO clinical features (Orphanet curated; top 5 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (80-99%) |
| HP:0010885 | Avascular necrosis | Very frequent (80-99%) |
| HP:0001156 | Brachydactyly | Frequent (30-79%) |
| HP:0001376 | Limitation of joint mobility | Frequent (30-79%) |
| HP:0000944 | Abnormal metaphysis morphology | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Thiemann disease, familial form |
| Mondo ID | MONDO:0008142 |
| MeSH | C537144 |
| OMIM | 165700 |
| Orphanet | 3314 |
| ICD-11 | 67016273 |
| SNOMED CT | 55166000 |
| UMLS | C0264081 |
| MedGen | 82674 |
| GARD | 0004131 |
| Is cancer (heuristic) | no |
Also known as: aseptic necrosis of phalangeal epiphyses · osteoarthropathy of fingers familial · osteochondritis of phalangeal epiphyses · Osteochondrosis of phalangeal epiphyses · Thiemann’s disease
Disease family
This is a subtype of osteochondrosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › osteonecrosis › osteochondrosis › Thiemann disease, familial form
Related subtypes (10): Osgood-Schlatter disease, Legg-Calve-Perthes disease, Scheuermann disease, dihydropyrimidine dehydrogenase deficiency, osteochondritis of tarsal/metatarsal bone, medial condensing osteitis of the clavicle, Kienbock disease, panner disease, Sinding-Larsen-Johansson disease, Freiberg disease
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.