MCID: MSL005
MIFTS: 21

Mseleni Joint Disease

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mseleni Joint Disease

MalaCards integrated aliases for Mseleni Joint Disease:

Name: Mseleni Joint Disease 57 58 71
Brachydactylous Dwarfism, Mseleni Type 58

Characteristics:

Orphanet epidemiological data:

58
brachydactylous dwarfism, mseleni type
Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 613342
MESH via Orphanet 45 C537086
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C2931420
Orphanet 58 ORPHA2619
MedGen 41 C2931420
UMLS 71 C3150544

Summaries for Mseleni Joint Disease

OMIM® : 57 Mseleni joint disease is a familial degenerative osteoarthropathy affecting several hundred persons in a remote rural region of northern Zululand, South Africa. The condition presents in childhood and progresses relentlessly, leading to severe physical handicap by early adulthood (summary by Agarwal et al., 1997). (613342) (Updated 05-Mar-2021)

MalaCards based summary : Mseleni Joint Disease, also known as brachydactylous dwarfism, mseleni type, is related to brachydactylous dwarfism mseleni type and handigodu joint disease. Affiliated tissues include bone, and related phenotypes are osteopenia and arthritis

Related Diseases for Mseleni Joint Disease

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

# Related Disease Score Top Affiliating Genes
1 brachydactylous dwarfism mseleni type 11.6
2 handigodu joint disease 11.3
3 protrusio acetabuli 10.2
4 osteoarthritis 10.2
5 osteomalacia 10.1
6 secondary hyperparathyroidism 10.1
7 multiple epiphyseal dysplasia 10.1
8 hyperparathyroidism 10.1
9 alcohol use disorder 10.1
10 arthropathy 10.1

Graphical network of the top 20 diseases related to Mseleni Joint Disease:



Diseases related to Mseleni Joint Disease

Symptoms & Phenotypes for Mseleni Joint Disease

Human phenotypes related to Mseleni Joint Disease:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
2 arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001369
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
5 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
6 abnormality of the hip bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003272
7 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
8 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
9 abnormality of the knee 58 31 hallmark (90%) Very frequent (99-80%) HP:0002815
10 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
11 abnormality of the wrist 58 31 frequent (33%) Frequent (79-30%) HP:0003019
12 severe short stature 31 HP:0003510
13 abnormal joint morphology 58 Very frequent (99-80%)

Clinical features from OMIM®:

613342 (Updated 05-Mar-2021)

Drugs & Therapeutics for Mseleni Joint Disease

Search Clinical Trials , NIH Clinical Center for Mseleni Joint Disease

Genetic Tests for Mseleni Joint Disease

Anatomical Context for Mseleni Joint Disease

MalaCards organs/tissues related to Mseleni Joint Disease:

40
Bone

Publications for Mseleni Joint Disease

Articles related to Mseleni Joint Disease:

(show all 27)
# Title Authors PMID Year
1
Mseleni and Handigodu familial osteoarthropathies: syndromic identity? 57 61
9375727 1997
2
Mseleni joint disease--a molecular genetic approach to defining the aetiology. 61 57
8823421 1996
3
Brachydactylous dwarfs of Mseleni. 57 61
8362904 1993
4
Mseleni joint disease: a radiological study of two affected families. 61 57
4765530 1973
5
Mseleni joint disease: the pilot clinical survey. 57 61
4767899 1973
6
Mseleni joint disease: a potential model of epigenetic chondrodysplasia. 61
20471895 2010
7
Mseleni joint disease progress. 61
11424859 2000
8
Mseleni Joint Disease: social priorities. 61
9651096 1998
9
Mseleni joint disease: not a borreliosis. 61
9093626 1997
10
Regression with an ordered categorical response. 61
2772438 1989
11
Histomorphometric analysis of osteopenia associated with endemic osteoarthritis (Mseleni joint disease). 61
3377919 1988
12
Osteopenia of the pelvis associated with Mseleni joint disease. Radiological aspects. 61
3660151 1987
13
Proteoglycans of articular cartilage in Mseleni joint disease. 61
3563757 1987
14
Prevalence of motor impairment and disability in a rural community in KwaZulu. 61
3557816 1987
15
Mseleni joint disease. Part II. Low serum calcium and magnesium levels in women. 61
3787400 1986
16
Mycotoxicological investigations on maize and groundnuts from the endemic area of Mseleni joint disease in Kwazulu. 61
3961620 1986
17
Distinct types of hip disorder in Mseleni joint disease. 61
3941935 1986
18
Mseleni joint disease. 61
2868221 1986
19
Slow virus in Mseleni joint disease. 61
2864520 1985
20
Mseleni joint disease. 61
2863499 1985
21
Mseleni joint disease in 1981: decreased prevalence rates, wider geographical location than before, and socioeconomic impact of an endemic osteoarthrosis in an underdeveloped community in South Africa. 61
4018995 1985
22
Mseleni joint disease. Part I. An animal model? 61
3966189 1985
23
Something fishy about Mseleni joint disease. 61
7302775 1981
24
Mseleni joint disease--a manganese deficiency? 61
7280891 1981
25
Mseleni joint disease: biochemical survey. 61
4766341 1973
26
Mseleni joint disease: background and prevalence. 61
4758246 1973
27
Mseleni joint disease: food and water supplies. 61
4760917 1973

Variations for Mseleni Joint Disease

Expression for Mseleni Joint Disease

Search GEO for disease gene expression data for Mseleni Joint Disease.

Pathways for Mseleni Joint Disease

GO Terms for Mseleni Joint Disease

Sources for Mseleni Joint 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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