Thiemann disease, familial form

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOARTHROPATHY OF FINGERS, FAMILIAL
THIEMANN EPIPHYSEAL DISEASE
Aseptic necrosis of phalangeal epiphyses
Osteochondrosis of phalangeal epiphyses
Osteochondritis of phalangeal epiphyses
Number of Symptoms 11
OrphanetNr: 3314
OMIM Id: 165700
ICD-10: M93.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
2
 (HPO:0009803) Short phalanx of finger 79 / 7739
3
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
4
 (HPO:0001155) Abnormality of the hand Very frequent [Orphanet] 54 / 7739
5
 (HPO:0006009) Broad phalanx 11 / 7739
6
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
7
 (HPO:0000944) Abnormality of the metaphyses Occasional [Orphanet] 141 / 7739
8
 (OMIM) Broad and short phalangeal metaphyses and epiphyses 1 / 7739
9
 (OMIM) Avascular necrosis of phalangeal epiphyses 1 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (OMIM) Proximal interphalangeal joint osteoarthropathy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Thiemann disease is a rare disorder that is considered to be a form of avascular necrosis of the proximal interphalangeal joints of the fingers and toes. The clinical symptoms usually appear in adolescence (Kotevoglu-Senerdem et al., 2003).
Diagnosis OMIM - Differential Diagnosis

Allison and Blumberg (1958) stated that this disorder can be distinguished from osteoarthritis, rheumatoid arthritis, and gout by its early age of onset, equal sex incidence, benign course, absence of symptoms, characteristic joint ...
Clinical Description OMIM Familial osteoarthropathy of fingers was first described by Thiemann (1909). Allison and Blumberg (1958) described 2 unrelated families in which many members (23 in 1 family and 20 in the other) had painless deformity at the proximal interphalangeal ...
Population genetics OMIM Giedion (1976) classified Thiemann disease with acrodysplasias and stated: 'We have never seen a typical case of this condition, which by now may be extinct.'

Although Thiemann disease is considered to be a rare disorder, Gewanter ...