Mseleni Joint Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Spondyloepiphyseal dysplasia

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

SNOMED-CT via HPO ⁶⁸ 237836003 237837007 312894000 more

UMLS ⁷¹ C3150544

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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

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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
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:

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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)

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Drugs & Therapeutics for Mseleni Joint Disease

Search Clinical Trials , NIH Clinical Center for Mseleni Joint Disease

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Genetic Tests for Mseleni Joint Disease

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Anatomical Context for Mseleni Joint Disease

MalaCards organs/tissues related to Mseleni Joint Disease:

⁴⁰

Bone

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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	Agarwal SS...Beighton P	9375727	1997
2	Mseleni joint disease--a molecular genetic approach to defining the aetiology. ⁶¹ ⁵⁷	Ballo R...Ramesar R	8823421	1996
3	Brachydactylous dwarfs of Mseleni. ⁵⁷ ⁶¹	Viljoen D...Beighton P	8362904	1993
4	Mseleni joint disease: a radiological study of two affected families. ⁶¹ ⁵⁷	Lockitch G...Elphinstone CD	4765530	1973
5	Mseleni joint disease: the pilot clinical survey. ⁵⁷ ⁶¹	Lockitch G...du Toit GT	4767899	1973
6	Mseleni joint disease: a potential model of epigenetic chondrodysplasia. ⁶¹	Gibbon VE...Fredlund V	20471895	2010
7	Mseleni joint disease progress. ⁶¹	Bateman C	11424859	2000
8	Mseleni Joint Disease: social priorities. ⁶¹	Waller RM	9651096	1998
9	Mseleni joint disease: not a borreliosis. ⁶¹	McGlashan ND...Larsen SA	9093626	1997
10	Regression with an ordered categorical response. ⁶¹	Hastie TJ...Schnitzler CM	2772438	1989
11	Histomorphometric analysis of osteopenia associated with endemic osteoarthritis (Mseleni joint disease). ⁶¹	Schnitzler CM...Smit AE	3377919	1988
12	Osteopenia of the pelvis associated with Mseleni joint disease. Radiological aspects. ⁶¹	Schnitzler CM...McLaren P	3660151	1987
13	Proteoglycans of articular cartilage in Mseleni joint disease. ⁶¹	Sweet MB...Hough FS	3563757	1987
14	Prevalence of motor impairment and disability in a rural community in KwaZulu. ⁶¹	McLaren PA...Smit AE	3557816	1987
15	Mseleni joint disease. Part II. Low serum calcium and magnesium levels in women. ⁶¹	Fincham JE...Schutte CH	3787400	1986
16	Mycotoxicological investigations on maize and groundnuts from the endemic area of Mseleni joint disease in Kwazulu. ⁶¹	Marasas WF...Van Rensburg SJ	3961620	1986
17	Distinct types of hip disorder in Mseleni joint disease. ⁶¹	Solomon L...Mann D	3941935	1986
18	Mseleni joint disease. ⁶¹	Fincham JE	2868221	1986
19	Slow virus in Mseleni joint disease. ⁶¹	Nurse GT	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	Yach D...Botha JL	4018995	1985
22	Mseleni joint disease. Part I. An animal model? ⁶¹	Fincham JE...Capatos D	3966189	1985
23	Something fishy about Mseleni joint disease. ⁶¹	Mackenzie DB	7302775	1981
24	Mseleni joint disease--a manganese deficiency? ⁶¹	Fincham JE...Marasas WF	7280891	1981
25	Mseleni joint disease: biochemical survey. ⁶¹	Burger FJ...Hogewind ZA	4766341	1973
26	Mseleni joint disease: background and prevalence. ⁶¹	Fellingham SA...Wittmann W	4758246	1973
27	Mseleni joint disease: food and water supplies. ⁶¹	Lubbe AM...Fellingham SA	4760917	1973

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Genes for Mseleni Joint Disease

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Variations for Mseleni Joint Disease

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Expression for Mseleni Joint Disease

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

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Pathways for Mseleni Joint Disease

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GO Terms for Mseleni Joint Disease

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