MCID: THM023
MIFTS: 21

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 53 72
Thiemann Epiphyseal Disease 57 53
Aseptic Necrosis of Phalangeal Epiphyses 59
Osteochondritis of Phalangeal Epiphyses 59
Osteochondrosis of Phalangeal Epiphyses 59
Osteoarthropathy of Fingers, Familial 57
Thiemann Disease, Familial Form 59
Thiemann's Disease 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
thiemann disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 165700
ICD10 via Orphanet 34 M93.2
Orphanet 59 ORPHA3314
MedGen 42 C0264081
UMLS 72 C0264081

Summaries for Thiemann Disease

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3314DefinitionThiemann 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.Visit the Orphanet disease page for more resources.

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

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)

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 10.3
2 idiopathic avascular necrosis 10.3
3 digital arthropathy-brachydactyly, familial 10.1
4 brachydactyly 10.1
5 arthropathy 10.1
6 juvenile rheumatoid arthritis 10.1
7 avascular necrosis 10.1
8 peripheral dysostosis 10.1
9 osteonecrosis 10.1
10 acrodysostosis 10.1
11 osteochondrosis 10.1

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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 avascular necrosis 32 hallmark (90%) HP:0010885
3 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
4 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
5 abnormality of the metaphysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000944
6 aseptic necrosis 59 Very frequent (99-80%)
7 short phalanx of finger 32 HP:0009803
8 broad phalanx 32 HP:0006009

Symptoms via clinical synopsis from OMIM:

57
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

Drugs & Therapeutics for Thiemann Disease

Search Clinical Trials , NIH Clinical Center for Thiemann Disease

Genetic Tests for Thiemann Disease

Anatomical Context for Thiemann Disease

MalaCards organs/tissues related to Thiemann Disease:

41
Bone

Publications for Thiemann Disease

Articles related to Thiemann Disease:

# Title Authors PMID Year
1
Thiemann disease. 38 8
17043444 2003
2
Thiemann's finger or toe disease. Follow-up of seven cases. 8
3962642 1986
3
Thiemann's disease. 8
3981502 1985
4
Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease. 8
1261107 1976
5
Thiemann's disease. A brief reminder. 8
1156455 1975
6
[Thiemann's disease. A familial case]. 8
5398149 1969
7
Familial osteoarthropathy of the fingers. 8
13575469 1958
8
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin? 38
31248428 2019
9
[Thiemann disease in monozygotic female twins]. 38
2618147 1989
10
Ivory and dense epiphyses of the hand: Thiemann disease in three sisters. 38
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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