MCID: UPN001
MIFTS: 18

Upington Disease

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Upington Disease

MalaCards integrated aliases for Upington Disease:

Name: Upington Disease 56 74 52 58 29 71
Perthes-Like Hip Disease, Enchondromata, and Ecchondromata 56 52
Hip Dysplasia-Enchondromata-Ecchondroma Syndrome 58
Familial Dyschondroplasia 52

Characteristics:

Orphanet epidemiological data:

58
upington disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset at age 5 years
majority of cases have bilateral involvement


HPO:

31
upington disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 191520
MESH via Orphanet 44 C536472
ICD10 via Orphanet 33 M91.8
UMLS via Orphanet 72 C1860596
Orphanet 58 ORPHA3408
MedGen 41 C1860596
UMLS 71 C1860596

Summaries for Upington Disease

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3408 Definition Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant . Visit the Orphanet disease page for more resources.

MalaCards based summary : Upington Disease, is also known as perthes-like hip disease, enchondromata, and ecchondromata. Affiliated tissues include bone, and related phenotypes are arthralgia and enchondroma

Wikipedia : 74 Upington disease, is an extremely rare autosomal dominant malformation disorder. It has only one... more...

More information from OMIM: 191520

Related Diseases for Upington Disease

Symptoms & Phenotypes for Upington Disease

Human phenotypes related to Upington Disease:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
2 enchondroma 58 31 frequent (33%) Frequent (79-30%) HP:0030038
3 broad femoral neck 58 31 frequent (33%) Frequent (79-30%) HP:0006429
4 flat capital femoral epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0003370
5 arthralgia of the hip 58 31 frequent (33%) Frequent (79-30%) HP:0003365
6 premature epimetaphyseal fusion 58 31 frequent (33%) Frequent (79-30%) HP:0010588
7 multiple enchondromatosis 31 HP:0005701
8 flattened femoral head 31 HP:0008812

Symptoms via clinical synopsis from OMIM:

56
Skeletal Pelvis:
flattened femoral heads
premature closure of the capital femoral epiphyses
widened femoral necks

Skeletal:
enchondromata (cartilaginous tumor growing from interior of bone)
ecchondromata (cartilaginous tumor projecting under periosteum)
arthralgias (hips, knees)

Clinical features from OMIM:

191520

Drugs & Therapeutics for Upington Disease

Search Clinical Trials , NIH Clinical Center for Upington Disease

Genetic Tests for Upington Disease

Genetic tests related to Upington Disease:

# Genetic test Affiliating Genes
1 Upington Disease 29

Anatomical Context for Upington Disease

MalaCards organs/tissues related to Upington Disease:

40
Bone

Publications for Upington Disease

Articles related to Upington Disease:

# Title Authors PMID Year
1
Upington disease: a familial dyschondroplasia. 61 56
5316541 1971

Variations for Upington Disease

Expression for Upington Disease

Search GEO for disease gene expression data for Upington Disease.

Pathways for Upington Disease

GO Terms for Upington Disease

Sources for Upington Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....