MCID: THM023
MIFTS: 20

Thiemann Disease

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Thiemann Disease

MalaCards integrated aliases for Thiemann Disease:

Name: Thiemann Disease 57
Osteoarthropathy of Fingers Familial 20 70
Thiemann Epiphyseal Disease 57 20
Aseptic Necrosis of Phalangeal Epiphyses 58
Osteochondrosis of Phalangeal Epiphyses 58
Osteoarthropathy of Fingers, Familial 57
Thiemann Disease, Familial Form 58
Thiemann's Disease 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
thiemann disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases


External Ids:

OMIM® 57 165700
ICD10 via Orphanet 33 M93.2
Orphanet 58 ORPHA3314
MedGen 41 C0264081
UMLS 70 C0264081

Summaries for Thiemann Disease

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3314 Definition Thiemann disease is 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.

MalaCards based summary : Thiemann Disease, also known as osteoarthropathy of fingers familial, is related to dysostosis and idiopathic avascular necrosis. Related phenotypes are avascular necrosis and abnormality of epiphysis morphology

OMIM® : 57 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). (165700) (Updated 20-May-2021)

Related Diseases for Thiemann Disease

Diseases related to Thiemann Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 dysostosis 10.2
2 idiopathic avascular necrosis 10.1
3 digital arthropathy-brachydactyly, familial 10.0
4 brachydactyly 10.0
5 arthropathy 10.0
6 juvenile rheumatoid arthritis 10.0
7 avascular necrosis 10.0
8 peripheral dysostosis 10.0
9 osteonecrosis 10.0
10 acrodysostosis 10.0
11 osteochondrosis 10.0

Graphical network of the top 20 diseases related to Thiemann Disease:



Diseases related to Thiemann Disease

Symptoms & Phenotypes for Thiemann Disease

Human phenotypes related to Thiemann Disease:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 avascular necrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010885
2 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
3 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
4 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
5 abnormality of the metaphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000944
6 short phalanx of finger 31 HP:0009803
7 broad phalanx 31 HP:0006009

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Misc:
onset in second decade

Radiology:
avascular necrosis of phalangeal epiphyses
broad and short phalangeal metaphyses and epiphyses

Limbs:
proximal interphalangeal joint osteoarthropathy

Clinical features from OMIM®:

165700 (Updated 20-May-2021)

Drugs & Therapeutics for Thiemann Disease

Search Clinical Trials , NIH Clinical Center for Thiemann Disease

Genetic Tests for Thiemann Disease

Anatomical Context for Thiemann Disease

Publications for Thiemann Disease

Articles related to Thiemann Disease:

# Title Authors PMID Year
1
Thiemann disease. 57 61
17043444 2003
2
Thiemann's finger or toe disease. Follow-up of seven cases. 57
3962642 1986
3
Thiemann's disease. 57
3981502 1985
4
Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease. 57
1261107 1976
5
Thiemann's disease. A brief reminder. 57
1156455 1975
6
[Thiemann's disease. A familial case]. 57
5398149 1969
7
Familial osteoarthropathy of the fingers. 57
13575469 1958
8
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin? 61
31248428 2019
9
[Thiemann disease in monozygotic female twins]. 61
2618147 1989
10
Ivory and dense epiphyses of the hand: Thiemann disease in three sisters. 61
3961517 1986

Variations for Thiemann Disease

Expression for Thiemann Disease

Search GEO for disease gene expression data for Thiemann Disease.

Pathways for Thiemann Disease

GO Terms for Thiemann Disease

Sources for Thiemann Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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