HJD
MCID: HND012
MIFTS: 20

Handigodu Joint Disease (HJD)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Handigodu Joint Disease

MalaCards integrated aliases for Handigodu Joint Disease:

Name: Handigodu Joint Disease 57 20 70
Spondyloepimetaphyseal Dysplasia, Handigodu Type 57 20 58
Mseleni Joint Disease 20
Hjd 57

Characteristics:

Orphanet epidemiological data:

58
spondyloepimetaphyseal dysplasia, handigodu type
Age of onset: Adolescent,Adult,Childhood;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 613343
ICD10 via Orphanet 33 Q77.7
Orphanet 58 ORPHA99642
UMLS 70 C3150545

Summaries for Handigodu Joint Disease

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99642 Definition Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging.

MalaCards based summary : Handigodu Joint Disease, also known as spondyloepimetaphyseal dysplasia, handigodu type, is related to mseleni joint disease and brachydactylous dwarfism mseleni type. An important gene associated with Handigodu Joint Disease is CP (Ceruloplasmin). Affiliated tissues include bone, and related phenotypes are hip dysplasia and short stature

OMIM® : 57 Handigodu disease is a autosomal dominant spondyloepimetaphyseal dysplasia prevalent in a few villages of 2 districts of the state of Karnataka in southern India (Agarwal et al., 1994). (613343) (Updated 20-May-2021)

Related Diseases for Handigodu Joint Disease

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

# Related Disease Score Top Affiliating Genes
1 mseleni joint disease 11.7
2 brachydactylous dwarfism mseleni type 11.2
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 Handigodu Joint Disease:



Diseases related to Handigodu Joint Disease

Symptoms & Phenotypes for Handigodu Joint Disease

Human phenotypes related to Handigodu Joint Disease:

58 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hip dysplasia 58 Occasional (29-5%)
2 short stature 58 Frequent (79-30%)
3 disproportionate short-trunk short stature 58 Frequent (79-30%)
4 abnormality of the skeletal system 58 Frequent (79-30%)
5 waddling gait 58 Occasional (29-5%)
6 protrusio acetabuli 58 Frequent (79-30%)
7 platyspondyly 58 Frequent (79-30%)
8 abnormality of the vertebral column 58 Frequent (79-30%)
9 coxa vara 58 Occasional (29-5%)
10 hip contracture 58 Frequent (79-30%)
11 abnormality of the intervertebral disk 58 Occasional (29-5%)
12 severe short stature 58 Occasional (29-5%)
13 difficulty walking 58 Frequent (79-30%)
14 abnormality of the hand 58 Occasional (29-5%)
15 abnormality of the knee 58 Occasional (29-5%)
16 flattened femoral head 58 Occasional (29-5%)
17 broad femoral neck 58 Occasional (29-5%)
18 short femoral neck 58 Occasional (29-5%)
19 hip subluxation 58 Frequent (79-30%)
20 hip osteoarthritis 58 Very frequent (99-80%)
21 lumbar hyperlordosis 58 Frequent (79-30%)
22 limited hip movement 58 Very frequent (99-80%)
23 arthralgia of the hip 58 Very frequent (99-80%)
24 difficulty running 58 Frequent (79-30%)
25 knee pain 58 Occasional (29-5%)
26 dysplasia of the femoral head 58 Frequent (79-30%)
27 hump-shaped mound of bone in central and posterior portions of vertebral endplate 58 Frequent (79-30%)
28 broad radial metaphysis 58 Occasional (29-5%)
29 wide distal femoral metaphysis 58 Occasional (29-5%)

Clinical features from OMIM®:

613343 (Updated 20-May-2021)

Drugs & Therapeutics for Handigodu Joint Disease

Search Clinical Trials , NIH Clinical Center for Handigodu Joint Disease

Genetic Tests for Handigodu Joint Disease

Anatomical Context for Handigodu Joint Disease

MalaCards organs/tissues related to Handigodu Joint Disease:

40
Bone

Publications for Handigodu Joint Disease

Articles related to Handigodu Joint Disease:

# Title Authors PMID Year
1
Mseleni and Handigodu familial osteoarthropathies: syndromic identity? 57 61
9375727 1997
2
Handigodu disease: a radiological study. A new variety of spondyloepi(meta)physeal dysplasia of the autosomal dominant type. 57
7886470 1994
3
Metabolic status of magnesium and ceruloplasmin in Handigodu Joint Disease: a variety of spondylo epi (meta) physeal dysplasia. 61
18565330 2008

Variations for Handigodu Joint Disease

Expression for Handigodu Joint Disease

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

Pathways for Handigodu Joint Disease

GO Terms for Handigodu Joint Disease

Sources for Handigodu 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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