MCID: SPN401
MIFTS: 19

Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive:

Name: Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 57
Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda 6

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
other autosomal dominant, autosomal recessive, and x-linked forms of spondyloepiphyseal dysplasia are known


HPO:

31
spondyloepiphyseal dysplasia tarda, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 271600
MedGen 41 C1849054
SNOMED-CT via HPO 68 237836003 239872002 258211005

Summaries for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

MalaCards based summary : Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, also known as autosomal recessive spondyloepiphyseal dysplasia tarda, is related to spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive is CCN6 (Cellular Communication Network Factor 6). Related phenotypes are short stature and platyspondyly

More information from OMIM: 271600

Related Diseases for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Diseases in the Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant family:

Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Diseases related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-spranger type 11.4
2 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
3 spondyloepiphyseal dysplasia tarda, x-linked 10.2

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Human phenotypes related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 platyspondyly 31 HP:0000926
3 hip osteoarthritis 31 HP:0008843
4 spondyloepiphyseal dysplasia 31 HP:0002655
5 flattened metatarsal heads 31 HP:0005194
6 flattened metacarpal heads 31 HP:0011909

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth:
short stature

Joints:
severe osteoarthritis of hips
multiple loose bodies in various joints
flattened metatarsal and metacarpal heads
symmetrical polyarticular osteoarthritis

Radiology:
platyspondyly

Lab:
deficiency of beta-2-globulin

Clinical features from OMIM®:

271600 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Genetic Tests for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Anatomical Context for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Publications for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Articles related to Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive:

(show all 13)
# Title Authors PMID Year
1
WISP3 mutation associated with pseudorheumatoid dysplasia. 6
29092958 2018
2
WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198. 6
27436824 2016
3
Novel and recurrent mutations in WISP3 and an atypical phenotype. 6
25988854 2015
4
A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis. 6
23270760 2013
5
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. 6
22987568 2012
6
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. 6
22791401 2012
7
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect. 6
16152649 2005
8
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. 6
12819927 2004
9
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. 6
10471507 1999
10
Platyspondyly, polyarticular osteoarthritis, and absent beta-2-globulin in two brothers. 57
4191421 1970
11
An Adult Case of Chondro-osteodystrophy. 57
19994087 1961
12
A new type of autosomal recessive spondyloepiphyseal dysplasia tarda. 61
14755466 2004
13
Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias. 61
2902229 1988

Variations for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive:

6 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCN6 NM_198239.2(CCN6):c.434G>A (p.Cys145Tyr) SNV Pathogenic 6379 rs121908899 GRCh37: 6:112386045-112386045
GRCh38: 6:112064842-112064842
2 CCN6 NM_198239.2(CCN6):c.993G>A (p.Trp331Ter) SNV Pathogenic 6380 rs121908900 GRCh37: 6:112390751-112390751
GRCh38: 6:112069548-112069548
3 CCN6 NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) SNV Pathogenic 6381 rs121908901 GRCh37: 6:112382301-112382301
GRCh38: 6:112061098-112061098
4 CCN6 NM_198239.2(CCN6):c.232T>C (p.Cys78Arg) SNV Pathogenic 6382 rs121908902 GRCh37: 6:112382377-112382377
GRCh38: 6:112061174-112061174
5 CCN6 NM_198239.2(CCN6):c.246del (p.Glu84fs) Deletion Pathogenic 6383 rs797044438 GRCh37: 6:112382391-112382391
GRCh38: 6:112061188-112061188
6 CCN6 NM_003880.3(CCN6):c.48+2dup Duplication Pathogenic 6384 rs797044439 GRCh37: 6:112375609-112375610
GRCh38: 6:112054406-112054407
7 CCN6 NM_198239.2(CCN6):c.862_863dup (p.Gln289fs) Duplication Pathogenic 6385 rs863223286 GRCh37: 6:112390619-112390620
GRCh38: 6:112069416-112069417
8 CCN6 NM_198239.2(CCN6):c.43_44del (p.Ala15fs) Deletion Pathogenic 6386 rs1554311394 GRCh37: 6:112375603-112375604
GRCh38: 6:112054400-112054401
9 CCN6 NM_198239.2(CCN6):c.1000T>C (p.Ser334Pro) SNV Pathogenic 6388 rs121908903 GRCh37: 6:112390758-112390758
GRCh38: 6:112069555-112069555
10 CCN6 NM_198239.2(CCN6):c.840del (p.Phe280fs) Deletion Pathogenic 6389 rs797044440 GRCh37: 6:112390596-112390596
GRCh38: 6:112069393-112069393
11 CCN6 NM_198239.1(CCN6):c.643+1G>A SNV Pathogenic 252451 rs879255273 GRCh37: 6:112386201-112386201
GRCh38: 6:112064998-112064998
12 CCN6 NM_198239.2(CCN6):c.866_867AG[1] (p.Ser290fs) Microsatellite Pathogenic 453263 rs781838640 GRCh37: 6:112390624-112390625
GRCh38: 6:112069421-112069422
13 CCN6 NM_198239.2(CCN6):c.692del (p.Val231fs) Deletion Pathogenic 627567 rs1562599153 GRCh37: 6:112389510-112389510
GRCh38: 6:112068307-112068307
14 CCN6 NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) SNV Pathogenic 521955 rs781986930 GRCh37: 6:112390768-112390768
GRCh38: 6:112069565-112069565
15 CCN6 NM_198239.2(CCN6):c.799dup (p.Thr267fs) Duplication Pathogenic 869151 GRCh37: 6:112390552-112390553
GRCh38: 6:112069349-112069350
16 CCN6 NM_198239.2(CCN6):c.707del (p.Ser236fs) Deletion Pathogenic 817946 rs1583586843 GRCh37: 6:112389525-112389525
GRCh38: 6:112068322-112068322
17 CCN6 NM_198239.2(CCN6):c.738_739GT[1] (p.Cys247fs) Microsatellite Pathogenic/Likely pathogenic 166615 rs727503755 GRCh37: 6:112389555-112389556
GRCh38: 6:112068352-112068353
18 CCN6 NM_198239.2(CCN6):c.589G>C (p.Ala197Pro) SNV Likely pathogenic 637051 rs1554313639 GRCh37: 6:112386200-112386200
GRCh38: 6:112064997-112064997
19 CCN6 NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr) SNV Conflicting interpretations of pathogenicity 631969 rs1562595388 GRCh37: 6:112382378-112382378
GRCh38: 6:112061175-112061175
20 CCN6 NM_198239.2(CCN6):c.535T>G (p.Cys179Gly) SNV Uncertain significance 903725 GRCh37: 6:112386146-112386146
GRCh38: 6:112064943-112064943
21 CCN6 NM_198239.2(CCN6):c.783+14A>G SNV Uncertain significance 903727 GRCh37: 6:112389615-112389615
GRCh38: 6:112068412-112068412
22 CCN6 NM_198239.2(CCN6):c.757G>A (p.Asp253Asn) SNV Uncertain significance 903726 GRCh37: 6:112389575-112389575
GRCh38: 6:112068372-112068372
23 CCN6 NM_198239.2(CCN6):c.29T>C (p.Leu10Pro) SNV Uncertain significance 1030720 GRCh37: 6:112375589-112375589
GRCh38: 6:112054386-112054386
24 CCN6 NM_003880.3(CCN6):c.48+13C>T SNV Uncertain significance 355055 rs375836805 GRCh37: 6:112375621-112375621
GRCh38: 6:112054418-112054418
25 CCN6 NM_198239.2(CCN6):c.648G>T (p.Trp216Cys) SNV Uncertain significance 828112 rs781860587 GRCh37: 6:112389466-112389466
GRCh38: 6:112068263-112068263
26 CCN6 NM_198239.2(CCN6):c.183C>T (p.Cys61=) SNV Uncertain significance 355062 rs886060987 GRCh37: 6:112382328-112382328
GRCh38: 6:112061125-112061125
27 CCN6 NM_198239.2(CCN6):c.91C>A (p.Pro31Thr) SNV Likely benign 355059 rs145590972 GRCh37: 6:112382236-112382236
GRCh38: 6:112061033-112061033
28 CCN6 NM_198239.2(CCN6):c.77C>T (p.Pro26Leu) SNV Likely benign 355057 rs149609367 GRCh37: 6:112382222-112382222
GRCh38: 6:112061019-112061019
29 CCN6 NM_198239.2(CCN6):c.327C>T (p.Tyr109=) SNV Likely benign 355064 rs145747429 GRCh37: 6:112382472-112382472
GRCh38: 6:112061269-112061269
30 CCN6 NM_198239.2(CCN6):c.131G>A (p.Arg44His) SNV Likely benign 711335 rs782703789 GRCh37: 6:112382276-112382276
GRCh38: 6:112061073-112061073
31 CCN6 NM_198239.2(CCN6):c.248G>A (p.Gly83Glu) SNV Benign/Likely benign 638295 rs147337485 GRCh37: 6:112382393-112382393
GRCh38: 6:112061190-112061190
32 CCN6 NM_198239.2(CCN6):c.178C>T (p.Arg60Cys) SNV Benign 355061 rs17073260 GRCh37: 6:112382323-112382323
GRCh38: 6:112061120-112061120
33 CCN6 NM_198239.2(CCN6):c.366C>T (p.Cys122=) SNV Benign 776146 rs112686348 GRCh37: 6:112385977-112385977
GRCh38: 6:112064774-112064774
34 CCN6 NM_198239.2(CCN6):c.-254A>G SNV Benign 355054 rs3806964 GRCh37: 6:112375307-112375307
GRCh38: 6:112054104-112054104
35 CCN6 NM_198239.2(CCN6):c.237C>T (p.Ala79=) SNV Benign 355063 rs112665393 GRCh37: 6:112382382-112382382
GRCh38: 6:112061179-112061179
36 CCN6 NM_198239.2(CCN6):c.168G>T (p.Gln56His) SNV Benign 355060 rs1230345 GRCh37: 6:112382313-112382313
GRCh38: 6:112061110-112061110
37 CCN6 NM_198239.2(CCN6):c.892A>C (p.Ile298Leu) SNV Benign 355066 rs34686812 GRCh37: 6:112390650-112390650
GRCh38: 6:112069447-112069447
38 CCN6 NM_198239.2(CCN6):c.78A>T (p.Pro26=) SNV Benign 355058 rs9487806 GRCh37: 6:112382223-112382223
GRCh38: 6:112061020-112061020
39 CCN6 NM_198239.2(CCN6):c.72T>C (p.Thr24=) SNV Benign 355056 rs1230346 GRCh37: 6:112382217-112382217
GRCh38: 6:112061014-112061014
40 CCN6 NM_198239.2(CCN6):c.807A>G (p.Gln269=) SNV Benign 355065 rs17219737 GRCh37: 6:112390565-112390565
GRCh38: 6:112069362-112069362

Expression for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive.

Pathways for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

GO Terms for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

Sources for Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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