PPRD
MCID: PRG071
MIFTS: 46

Progressive Pseudorheumatoid Dysplasia (PPRD)

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

Aliases & Classifications for Progressive Pseudorheumatoid Dysplasia

MalaCards integrated aliases for Progressive Pseudorheumatoid Dysplasia:

Name: Progressive Pseudorheumatoid Dysplasia 57 25 20 43 36 29 54 6
Progressive Pseudorheumatoid Arthropathy of Childhood 57 12 25 20 43 58 72 15
Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy 57 25 20 43
Arthropathy, Progressive Pseudorheumatoid, of Childhood 57 20 13 39
Spondyloepiphyseal Dysplasia Tarda-Progressive Arthropathy Syndrome 12 20 58
Ppac 57 20 72
Sedt-Pa 57 20
Ppd 57 20
Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy; Sedt-Pa 57
Arthropathy, Progressive Pseudorheumatoid, of Childhood; Ppac 57
Spondyloepiphyseal Dysplasia Tarda - Progressive Arthropathy 20
Progressive Pseudorheumatoid Chondrodysplasia 20
Pprd 57

Characteristics:

Orphanet epidemiological data:

58
progressive pseudorheumatoid arthropathy of childhood
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
waddling gait
walking difficulties
onset of disease 3-8 years

Inheritance:
autosomal recessive


HPO:

31
progressive pseudorheumatoid dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0090004
OMIM® 57 208230
KEGG 36 H00758
ICD10 32 Q77.7
MESH via Orphanet 45 C535387
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 71 C0432215
Orphanet 58 ORPHA1159
MedGen 41 C0432215

Summaries for Progressive Pseudorheumatoid Dysplasia

MedlinePlus Genetics : 43 Progressive pseudorheumatoid dysplasia (PPRD) is a joint disease that worsens over time. This condition is characterized by breakdown (degeneration) of the cartilage between bones (articular cartilage). This cartilage covers and protects the ends of bones, and its degeneration leads to pain and stiffness in the joints and other features of PPRD.PPRD usually begins in childhood, between ages 3 and 8. The first indications are usually an abnormal walking pattern, weakness and fatigue when active, and stiffness in the joints in the fingers and in the knees. Other signs and symptoms that develop over time include permanently bent fingers (camptodactyly), enlarged finger and knee joints (often mistaken as swelling), and a reduced amount of space between the bones at the hip and knee joints. Hip pain is a common problem by adolescence. Affected individuals have flattened bones in the spine (platyspondyly) that are abnormally shaped (beaked), which leads to an abnormal front-to-back curvature of the spine (kyphosis) and a short torso. At birth, people with PPRD are of normal length, but by adulthood, they are usually shorter than their peers. Affected adults also have abnormal deposits of calcium around the elbow, knee, and hip joints and limited movement in all joints, including those of the spine.PPRD is often mistaken for another joint disorder that affects young people called juvenile rheumatoid arthritis. However, the joint problems in juvenile rheumatoid arthritis are associated with inflammation, while those in PPRD are not.

MalaCards based summary : Progressive Pseudorheumatoid Dysplasia, also known as progressive pseudorheumatoid arthropathy of childhood, is related to arthropathy and coxa vara. An important gene associated with Progressive Pseudorheumatoid Dysplasia is CCN6 (Cellular Communication Network Factor 6), and among its related pathways/superpathways are Spinal Cord Injury and Endochondral Ossification. Affiliated tissues include bone, skeletal muscle and colon, and related phenotypes are gait disturbance and joint stiffness

Disease Ontology : 12 A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has material basis in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22.

GARD : 20 Progressive pseudorheumatoid disyplasia (PPD) is a disorder of bone and cartilage that affects many joints. It manifests between the age of 3 and 6 years with joint pain and progressive joint stiffness. Major signs and symptoms include stiff joints ( contractures ), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. Bony widening at the fingers' joints progresses leading to permanent bending of the fingers (camptodactyly). Spine involvement results in short trunk and hunching of the back (kyphosis). It may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPD is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. There is still no cure. Treatment may include pain medication and hip and knee joint replacement surgery at an early age.

KEGG : 36 Progressive pseudorheumatoid dysplasia (PPRD) is an inherited skeletal dysplasia in which the spine is affected as in spondyloepiphyseal dysplasia tarda. There is degeneration of articular cartilage that leads to stiffness and swelling of joints. The disease is caused by mutations of the WISP3 gene.

UniProtKB/Swiss-Prot : 72 Progressive pseudorheumatoid arthropathy of childhood: Autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging.

More information from OMIM: 208230
GeneReviews: NBK327267

Related Diseases for Progressive Pseudorheumatoid Dysplasia

Diseases related to Progressive Pseudorheumatoid Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 198)
# Related Disease Score Top Affiliating Genes
1 arthropathy 30.7 COL2A1 CCN6
2 coxa vara 30.3 COL2A1 COL10A1
3 spondyloepiphyseal dysplasia with congenital joint dislocations 30.3 COL2A1 CHST11 CCN6
4 metaphyseal dysplasia 30.0 COL2A1 COL10A1
5 odontochondrodysplasia 29.7 COL2A1 COL10A1 CCN6
6 czech dysplasia 11.3
7 postpartum depression 11.1
8 polydactyly, preaxial i 11.0
9 1,4-phenylenediamine allergic contact dermatitis 11.0
10 paranoid personality disorder 10.9
11 juvenile rheumatoid arthritis 10.6
12 autosomal recessive disease 10.6
13 allergic disease 10.6
14 pulmonary tuberculosis 10.5
15 spondyloepiphyseal dysplasia tarda, autosomal recessive 10.4
16 spondyloepiphyseal dysplasia tarda, x-linked 10.4
17 mycobacterium tuberculosis 1 10.4
18 leprosy 3 10.3
19 hansen's disease 10.3
20 paraplegia 10.3
21 spinal stenosis 10.3
22 cataract 10.3
23 wilms tumor 1 10.3
24 plica syndrome 10.3
25 synovitis 10.3
26 arthritis 10.3
27 pleurisy 10.3
28 contact dermatitis 10.3
29 spondyloepiphyseal dysplasia, stanescu type 10.2
30 scoliosis 10.2
31 skeletal dysplasias 10.2
32 synovial chondromatosis 10.2
33 polyarticular juvenile idiopathic arthritis 10.2
34 tetanus 10.2
35 allergic contact dermatitis 10.2
36 dermatitis 10.2
37 measles 10.1
38 hyperostosis 10.1
39 myopathy 10.1
40 gastric cancer 10.1
41 mumps 10.1
42 tuberculous meningitis 10.1
43 spondyloarthropathy 1 10.0
44 autoimmune disease 10.0
45 scheuermann disease 10.0
46 spinal disease 10.0
47 inflammatory spondylopathy 10.0
48 relapsing polychondritis 10.0
49 spondylitis 10.0
50 muscular atrophy 10.0

Graphical network of the top 20 diseases related to Progressive Pseudorheumatoid Dysplasia:



Diseases related to Progressive Pseudorheumatoid Dysplasia

Symptoms & Phenotypes for Progressive Pseudorheumatoid Dysplasia

Human phenotypes related to Progressive Pseudorheumatoid Dysplasia:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 methylmalonic acidemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002912
5 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
6 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
7 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
8 abnormality of the knee 58 31 frequent (33%) Frequent (79-30%) HP:0002815
9 flattened epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0003071
10 sclerotic vertebral endplates 58 31 frequent (33%) Frequent (79-30%) HP:0004576
11 enlarged interphalangeal joints 58 31 frequent (33%) Frequent (79-30%) HP:0006247
12 muscle weakness 31 HP:0001324
13 abnormal form of the vertebral bodies 58 Frequent (79-30%)
14 osteoporosis 31 HP:0000939
15 waddling gait 31 HP:0002515
16 kyphoscoliosis 31 HP:0002751
17 platyspondyly 31 HP:0000926
18 joint swelling 31 HP:0001386
19 genu varum 31 HP:0002970
20 coxa vara 31 HP:0002812
21 camptodactyly of finger 31 HP:0100490
22 difficulty walking 31 HP:0002355
23 metaphyseal widening 31 HP:0003016
24 arthropathy 31 HP:0003040
25 enlarged epiphyses 31 HP:0010580
26 decreased cervical spine mobility 31 HP:0004637
27 abnormal foot morphology 31 HP:0001760
28 enlargement of the proximal femoral epiphysis 31 HP:0003371
29 enlarged metacarpophalangeal joints 31 HP:0006163

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
joint stiffness
joint swelling
osteoarthritis

Skeletal Limbs:
genu varum
large joint contractures
flattened, enlarged epiphyses

Skeletal Hands:
enlarged interphalangeal joints
enlarged metacarpophalangeal joints
flexion deformities of fingers
narrowed joint spaces
wide metaphyses (metacarpals and phalanges)
more
Muscle Soft Tissue:
easily fatigued
muscular weakness

Skeletal Spine:
kyphoscoliosis
platyspondyly
decreased cervical spine mobility
anterior end-plate erosions

Skeletal Pelvis:
coxa vara
enlarged capital femoral epiphyses
periarticular osteoporosis
joint space narrowing
acetabular irregularity

Skeletal Feet:
wide metaphyses (metatarsals and phalanges)
enlarged epiphyses (metatarsals and phalanges)

Laboratory Abnormalities:
normal sedimentation rate
negative rheumatoid factor

Clinical features from OMIM®:

208230 (Updated 05-Apr-2021)

Drugs & Therapeutics for Progressive Pseudorheumatoid Dysplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Packing of Perianal Abscess Cavities (PPAC) Trial: A Randomised Multicentre Trial Comparing Packing With Non-packing of the Abscess Cavity Unknown status NCT01739478

Search NIH Clinical Center for Progressive Pseudorheumatoid Dysplasia

Genetic Tests for Progressive Pseudorheumatoid Dysplasia

Genetic tests related to Progressive Pseudorheumatoid Dysplasia:

# Genetic test Affiliating Genes
1 Progressive Pseudorheumatoid Dysplasia 29 CCN6

Anatomical Context for Progressive Pseudorheumatoid Dysplasia

MalaCards organs/tissues related to Progressive Pseudorheumatoid Dysplasia:

40
Bone, Skeletal Muscle, Colon

Publications for Progressive Pseudorheumatoid Dysplasia

Articles related to Progressive Pseudorheumatoid Dysplasia:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. 61 25 57 6
10471507 1999
2
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. 54 61 6 25
16152649 2005
3
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. 6 25 61
22987568 2012
4
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. 6 25 61
22791401 2012
5
Novel and recurrent mutations in WISP3 and an atypical phenotype. 6 25
25988854 2015
6
Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance. 25 57
6807993 1982
7
WISP3 mutation associated with pseudorheumatoid dysplasia. 61 6
29092958 2018
8
WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198. 6 61
27436824 2016
9
Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation. 61 54 25
17483925 2007
10
WISP3-dependent regulation of type II collagen and aggrecan production in chondrocytes. 61 25 54
14872491 2004
11
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. 61 6
12819927 2004
12
Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22. 61 57
9737778 1998
13
Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. 57 61
9781029 1998
14
Progressive pseudorheumatoid dysplasia: report of a family and review. 61 57
9222963 1997
15
Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis. 57 61
6837637 1983
16
A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings. 61 25
27081554 2015
17
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
18
Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height. 57
8275575 1993
19
Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. 57
3712405 1986
20
Spondyloepiphyseal dysplasia tarda with progressive arthropathy. 57
6431106 1984
21
Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis. 57
6873109 1983
22
Spondyloepiphyseal dysplasia tarda with progressive arthropathy. 57
6410512 1983
23
The radiological features of a new bone dysplasia. 57
7301445 1981
24
[Familial syndesmodysplasic dwarfism. A new disease entity]. 57
4657332 1972
25
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
26
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
27
Dysfunction of collagen synthesis and secretion in chondrocytes induced by wisp3 mutation. 25
23573089 2013
28
[Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia]. 61 54
20426955 2010
29
Normal growth and development in mice over-expressing the CCN family member WISP3. 61 54
19401829 2009
30
Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia. 54 61
19064006 2009
31
The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling. 54 61
17823661 2007
32
Mutant WISP3 triggers the phenotype shift of articular chondrocytes by promoting sensitivity to IGF-1 hypothesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA). 54 61
17363178 2007
33
WISP-3 functions as a ligand and promotes superoxide dismutase activity. 61 54
16480948 2006
34
WISP genes are members of the connective tissue growth factor family that are up-regulated in wnt-1-transformed cells and aberrantly expressed in human colon tumors. 25
9843955 1998
35
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study. 61
33662637 2021
36
Ccn6 Is Required for Mitochondrial Integrity and Skeletal Muscle Function in Zebrafish. 61
33644064 2021
37
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy. 61
32856782 2020
38
Multi-scale mechanical investigation of articular cartilage suffered progressive pseudorheumatoid dysplasia. 61
31959394 2020
39
High Circulating Levels of IL-4 and IL-10 in Progressive Pseudorheumatoid Dysplasia Patient. 61
30946287 2020
40
Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis. 61
32894151 2020
41
Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia. 61
32884773 2020
42
Delayed-onset progressive pseudorheumatoid dysplasia with secondary synovial chondromatosis. 61
32430353 2020
43
Mid-Term Outcome of Total Hip Arthroplasty in Patients With Progressive Pseudorheumatoid Dysplasia. 61
31876842 2019
44
Progressive pseudorheumatoid dysplasia: a report of three cases and a review of radiographic and magnetic resonance imaging findings. 61
30712121 2019
45
Progressive pseudorheumatoid dysplasia: a rare childhood disease. 61
30327864 2019
46
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature. 61
30922245 2019
47
Progressive pseudorheumatoid dysplasia confirmed by whole-exon sequencing in a Chinese adult before corrective surgery. 61
30635069 2019
48
A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family. 61
31294002 2019
49
[Progressive pseudorheumatoid dysplasia misdiagnosed as ankylosing spondylitis: a case report]. 61
30562792 2018
50
Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3. 61
30200995 2018

Variations for Progressive Pseudorheumatoid Dysplasia

ClinVar genetic disease variations for Progressive Pseudorheumatoid Dysplasia:

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_198239.2(CCN6):c.866_867AG[1] (p.Ser290fs) Microsatellite Pathogenic 453263 rs781838640 GRCh37: 6:112390624-112390625
GRCh38: 6:112069421-112069422
12 CCN6 NM_198239.2(CCN6):c.692del (p.Val231fs) Deletion Pathogenic 627567 rs1562599153 GRCh37: 6:112389510-112389510
GRCh38: 6:112068307-112068307
13 CCN6 NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) SNV Pathogenic 521955 rs781986930 GRCh37: 6:112390768-112390768
GRCh38: 6:112069565-112069565
14 CCN6 NM_198239.2(CCN6):c.707del (p.Ser236fs) Deletion Pathogenic 817946 rs1583586843 GRCh37: 6:112389525-112389525
GRCh38: 6:112068322-112068322
15 CCN6 NM_198239.2(CCN6):c.799dup (p.Thr267fs) Duplication Pathogenic 869151 GRCh37: 6:112390552-112390553
GRCh38: 6:112069349-112069350
16 CCN6 NM_198239.1(CCN6):c.643+1G>A SNV Pathogenic 252451 rs879255273 GRCh37: 6:112386201-112386201
GRCh38: 6:112064998-112064998
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.648G>T (p.Trp216Cys) SNV Uncertain significance 828112 rs781860587 GRCh37: 6:112389466-112389466
GRCh38: 6:112068263-112068263
23 CCN6 NM_198239.2(CCN6):c.757G>A (p.Asp253Asn) SNV Uncertain significance 903726 GRCh37: 6:112389575-112389575
GRCh38: 6:112068372-112068372
24 CCN6 NM_198239.2(CCN6):c.29T>C (p.Leu10Pro) SNV Uncertain significance 1030720 GRCh37: 6:112375589-112375589
GRCh38: 6:112054386-112054386
25 CCN6 NM_198239.2(CCN6):c.183C>T (p.Cys61=) SNV Uncertain significance 355062 rs886060987 GRCh37: 6:112382328-112382328
GRCh38: 6:112061125-112061125
26 CCN6 NM_003880.3(CCN6):c.48+13C>T SNV Uncertain significance 355055 rs375836805 GRCh37: 6:112375621-112375621
GRCh38: 6:112054418-112054418
27 CCN6 NM_198239.2(CCN6):c.327C>T (p.Tyr109=) SNV Likely benign 355064 rs145747429 GRCh37: 6:112382472-112382472
GRCh38: 6:112061269-112061269
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.91C>A (p.Pro31Thr) SNV Likely benign 355059 rs145590972 GRCh37: 6:112382236-112382236
GRCh38: 6:112061033-112061033
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.366C>T (p.Cys122=) SNV Benign 776146 rs112686348 GRCh37: 6:112385977-112385977
GRCh38: 6:112064774-112064774
33 CCN6 NM_198239.2(CCN6):c.72T>C (p.Thr24=) SNV Benign 355056 rs1230346 GRCh37: 6:112382217-112382217
GRCh38: 6:112061014-112061014
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.178C>T (p.Arg60Cys) SNV Benign 355061 rs17073260 GRCh37: 6:112382323-112382323
GRCh38: 6:112061120-112061120
40 CCN6 NM_198239.2(CCN6):c.807A>G (p.Gln269=) SNV Benign 355065 rs17219737 GRCh37: 6:112390565-112390565
GRCh38: 6:112069362-112069362

UniProtKB/Swiss-Prot genetic disease variations for Progressive Pseudorheumatoid Dysplasia:

72
# Symbol AA change Variation ID SNP ID
1 CCN6 p.Cys78Arg VAR_016225 rs121908902
2 CCN6 p.Cys78Tyr VAR_081485
3 CCN6 p.Cys114Arg VAR_081487
4 CCN6 p.Cys114Trp VAR_081488
5 CCN6 p.Cys223Gly VAR_081491 rs782813346
6 CCN6 p.Cys337Tyr VAR_081495
7 CCN6 p.Cys114Tyr VAR_081654
8 CCN6 p.Gly226Val VAR_081657
9 CCN6 p.Ser334Pro VAR_081659 rs121908903

Expression for Progressive Pseudorheumatoid Dysplasia

Search GEO for disease gene expression data for Progressive Pseudorheumatoid Dysplasia.

Pathways for Progressive Pseudorheumatoid Dysplasia

Pathways related to Progressive Pseudorheumatoid Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.03 COL2A1 CHST11
2 10.61 COL2A1 COL10A1 CHST11

GO Terms for Progressive Pseudorheumatoid Dysplasia

Cellular components related to Progressive Pseudorheumatoid Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.33 COL2A1 COL10A1 CCN1
2 collagen trimer GO:0005581 9.26 COL2A1 COL10A1
3 endoplasmic reticulum lumen GO:0005788 9.13 COL2A1 COL10A1 CCN1
4 extracellular matrix GO:0031012 8.92 COL2A1 COL10A1 CCN6 CCN1

Biological processes related to Progressive Pseudorheumatoid Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.26 COL2A1 COL10A1
2 cartilage development GO:0051216 9.16 COL2A1 CHST11
3 negative regulation of cell death GO:0060548 8.96 CCN6 CCN1
4 extracellular matrix organization GO:0030198 8.8 COL2A1 COL10A1 CCN1

Molecular functions related to Progressive Pseudorheumatoid Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.26 CCN6 CCN1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL2A1 COL10A1
3 insulin-like growth factor binding GO:0005520 8.96 CCN6 CCN1
4 extracellular matrix structural constituent GO:0005201 8.8 COL2A1 COL10A1 CCN1

Sources for Progressive Pseudorheumatoid Dysplasia

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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