PPRD
MCID: PRG071
MIFTS: 49

Progressive Pseudorheumatoid Dysplasia (PPRD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Progressive Pseudorheumatoid Dysplasia

MalaCards integrated aliases for Progressive Pseudorheumatoid Dysplasia:

Name: Progressive Pseudorheumatoid Dysplasia 57 24 19 42 73 28 53 5 75
Progressive Pseudorheumatoid Arthropathy of Childhood 57 11 24 19 42 58 73 14
Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy 57 24 19 42
Arthropathy, Progressive Pseudorheumatoid, of Childhood 57 19 73 12
Spondyloepiphyseal Dysplasia Tarda-Progressive Arthropathy Syndrome 11 19 58
Sedt-Pa 57 19 73
Ppac 57 19 73
Ppd 57 19 73
Pprd 57 73
Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy; 73
Spondyloepiphyseal Dysplasia Tarda - Progressive Arthropathy 19
Progressive Pseudorheumatoid Chondrodysplasia 19
Dysplasia, Pseudorheumatoid, Progressive 38

Characteristics:


Inheritance:

Progressive Pseudorheumatoid Dysplasia: Autosomal recessive 57
Progressive Pseudorheumatoid Arthropathy of Childhood: Autosomal recessive 58

Age Of Onset:

Progressive Pseudorheumatoid Arthropathy of Childhood: Childhood 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
waddling gait
walking difficulties
onset of disease 3-8 years


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0090004
OMIM® 57 208230
MeSH 43 D007592
ICD10 31 Q77.7
MESH via Orphanet 44 C535387
ICD10 via Orphanet 32 Q77.7
UMLS via Orphanet 72 C0432215
Orphanet 58 ORPHA1159
MedGen 40 C0432215

Summaries for Progressive Pseudorheumatoid Dysplasia

MedlinePlus Genetics: 42 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 osteochondrodysplasia and wilms tumor 5. An important gene associated with Progressive Pseudorheumatoid Dysplasia is CCN6 (Cellular Communication Network Factor 6), and among its related pathways/superpathways are VEGFA-VEGFR2 signaling pathway and Endochondral ossification. Affiliated tissues include bone, skeletal muscle and lung, and related phenotypes are waddling gait and platyspondyly

GARD: 19 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. 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 genetic change in the WISP3 gene and is inherited in an autosomal recessive pattern.

Disease Ontology: 11 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.

UniProtKB/Swiss-Prot: 73 An 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.

Orphanet: 58 Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

Wikipedia: 75 Progressive pseudorheumatoid disyplasia (PPD or PPAC) is a disorder of bone and cartilage that affects... more...

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 266)
# Related Disease Score Top Affiliating Genes
1 osteochondrodysplasia 30.3 COL10A1 CHST11 CCN6
2 wilms tumor 5 29.9 CCN6 CCN1
3 scoliosis 29.6 COL10A1 CHST11 CCN6
4 czech dysplasia 11.3
5 postpartum depression 11.2
6 1,4-phenylenediamine allergic contact dermatitis 11.0
7 paranoid personality disorder 11.0
8 juvenile rheumatoid arthritis 10.7
9 arthropathy 10.6
10 osteoarthritis 10.6
11 spondyloepiphyseal dysplasia with congenital joint dislocations 10.6
12 allergic disease 10.6
13 pulmonary tuberculosis 10.5
14 spondyloepiphyseal dysplasia tarda, x-linked 10.5
15 bone disease 10.5
16 spondyloepiphyseal dysplasia tarda, autosomal recessive 10.5
17 mycobacterium tuberculosis 1 10.4
18 leprosy 3 10.3
19 paraplegia 10.3
20 spinal stenosis 10.3
21 cataract 10.3
22 wilms tumor 1 10.3
23 cartilage disease 10.3
24 synovitis 10.3
25 pleurisy 10.3
26 pleural tuberculosis 10.3
27 contact dermatitis 10.3
28 coxa vara 10.2
29 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
30 spondyloepiphyseal dysplasia, stanescu type 10.2
31 type ii collagen disorders 10.2
32 synovial chondromatosis 10.2
33 polyarticular juvenile idiopathic arthritis 10.2
34 allergic contact dermatitis 10.2
35 measles 10.2
36 tetanus 10.2
37 dermatitis 10.2
38 blount's disease 10.1
39 hyperostosis 10.1
40 myopathy 10.1
41 diffuse idiopathic skeletal hyperostosis 10.1
42 mumps 10.1
43 rubella 10.1
44 polydactyly, preaxial i 10.1
45 glass syndrome 10.1
46 gastric antral vascular ectasia 10.1
47 tuberculous meningitis 10.1
48 spondyloarthropathy 1 10.1
49 autoimmune disease 10.1
50 scheuermann disease 10.1

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 30 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 waddling gait 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002515
2 platyspondyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000926
3 joint swelling 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001386
4 irregular vertebral endplates 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003301
5 spondyloepiphyseal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002655
6 polyarticular arthropathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005195
7 narrow small joints of the hand 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004267
8 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
9 easy fatigability 58 30 Frequent (33%) Frequent (79-30%)
HP:0003388
10 arthralgia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002829
11 abnormality of the elbow 58 30 Frequent (33%) Frequent (79-30%)
HP:0009811
12 vertebral wedging 58 30 Frequent (33%) Frequent (79-30%)
HP:0008422
13 limitation of joint mobility 58 30 Frequent (33%) Frequent (79-30%)
HP:0001376
14 camptodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0012385
15 wrist swelling 58 30 Frequent (33%) Frequent (79-30%)
HP:0001225
16 irregularity of vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0004582
17 joint contracture of the hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0009473
18 thoracolumbar kyphoscoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0003423
19 infancy onset short-trunk short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0011406
20 hyperconvex vertebral body endplates 58 30 Frequent (33%) Frequent (79-30%)
HP:0004603
21 abnormality of hand joint mobility 58 30 Frequent (33%) Frequent (79-30%)
HP:0006256
22 hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003307
23 beaking of vertebral bodies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004568
24 genu valgum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002857
25 abnormality of the neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000464
26 genu varum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002970
27 coxa vara 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002812
28 broad femoral neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006429
29 short femoral neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100864
30 flat capital femoral epiphysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003370
31 generalized osteoporosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040160
32 enlarged interphalangeal joints 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006247
33 periarticular calcification 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025477
34 enlargement of the proximal femoral epiphysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003371
35 irregular acetabular roof 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008833
36 abnormal shoulder morphology 30 Occasional (7.5%) HP:0003043
37 abnormal ilium morphology 30 Occasional (7.5%) HP:0002867
38 enlarged epiphyses 58 30 Occasional (29-5%)
HP:0010580
39 scoliosis 58 Frequent (79-30%)
40 joint stiffness 30 HP:0001387
41 short stature 58 Frequent (79-30%)
42 osteoporosis 30 HP:0000939
43 kyphoscoliosis 30 HP:0002751
44 osteoarthritis 30 HP:0002758
45 camptodactyly of finger 30 HP:0100490
46 abnormality of the shoulder 58 Occasional (29-5%)
47 difficulty walking 30 HP:0002355
48 abnormality of the ilium 58 Occasional (29-5%)
49 abnormality of the knee 58 Frequent (79-30%)
50 metaphyseal widening 30 HP:0003016

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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 28 CCN6

Anatomical Context for Progressive Pseudorheumatoid Dysplasia

Organs/tissues related to Progressive Pseudorheumatoid Dysplasia:

MalaCards : Bone, Skeletal Muscle, Lung, Colon, Liver, Brain

Publications for Progressive Pseudorheumatoid Dysplasia

Articles related to Progressive Pseudorheumatoid Dysplasia:

(show top 50) (show all 225)
# Title Authors PMID Year
1
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. 62 24 57 5
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. 53 62 24 5
16152649 2005
3
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. 62 24 5
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. 62 24 5
22791401 2012
5
Novel and recurrent mutations in WISP3 and an atypical phenotype. 24 5
25988854 2015
6
Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance. 24 57
6807993 1982
7
WISP3 mutation associated with pseudorheumatoid dysplasia. 62 5
29092958 2018
8
WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198. 62 5
27436824 2016
9
A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis. 62 5
23270760 2013
10
Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation. 53 62 24
17483925 2007
11
WISP3-dependent regulation of type II collagen and aggrecan production in chondrocytes. 53 62 24
14872491 2004
12
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. 62 5
12819927 2004
13
Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22. 62 57
9737778 1998
14
Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. 62 57
9781029 1998
15
Progressive pseudorheumatoid dysplasia: report of a family and review. 62 57
9222963 1997
16
Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height. 62 57
8275575 1993
17
Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs. 62 57
3712405 1986
18
Spondyloepiphyseal dysplasia tarda with progressive arthropathy. 62 57
6431106 1984
19
Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis. 62 57
6873109 1983
20
Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis. 62 57
6837637 1983
21
Spondyloepiphyseal dysplasia tarda with progressive arthropathy. 62 57
6410512 1983
22
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
23
Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India. 5
30408610 2019
24
A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings. 62 24
27081554 2015
25
Dysfunction of collagen synthesis and secretion in chondrocytes induced by wisp3 mutation. 62 24
23573089 2013
26
The radiological features of a new bone dysplasia. 57
7301445 1981
27
[Familial syndesmodysplasic dwarfism. A new disease entity]. 57
4657332 1972
28
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
29
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
30
[Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia]. 53 62
20426955 2010
31
Normal growth and development in mice over-expressing the CCN family member WISP3. 53 62
19401829 2009
32
Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia. 53 62
19064006 2009
33
[Construction of WISP3 gene's mutants in SEDT-PA and their expression in COS-7 cells]. 53 62
18245897 2008
34
WISP3 suppresses insulin-like growth factor signaling in human chondrocytes. 53 62
17942216 2007
35
The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling. 53 62
17823661 2007
36
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). 53 62
17363178 2007
37
WISP-3 functions as a ligand and promotes superoxide dismutase activity. 53 62
16480948 2006
38
[Proliferation, differentiation, and gene expression profile of osteoblast of patient with spondyloepiphyseal dysplasia tarda with progressive arthropathy]. 53 62
16029628 2005
39
[Pathology and molecular pathogenesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy caused by compound CCN6 heterogeneous gene mutations]. 53 62
15631777 2004
40
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. 24
9843955 1998
41
Urban environment and physical activity and capacity in patients with chronic obstructive pulmonary disease. 62
35872322 2022
42
Prepubic aponeurotic complex injuries: a structured narrative review. 62
36043265 2022
43
A novel compound heterozygous mutation of WISP3 in progressive pseudorheumatoid dysplasia mimicking juvenile idiopathic arthritis. 62
35445714 2022
44
Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort. 62
34919662 2022
45
A "Dual-Source, Dual-Activation" Strategy for an NIR-II Window Theranostic Nanosystem Enabling Optimal Photothermal-Ion Combination Therapy. 62
35665998 2022
46
[Contrastive study on MRI signs of intestinal and pancreatobiliary-type periampullary carcinoma]. 62
35545578 2022
47
The genetics of progressive pseudorheumatoid dysplasia. 62
35485200 2022
48
The genetics of progressive pseudorheumatoid dysplasia (PPRD). 62
35451486 2022
49
Purely Attention Based Local Feature Integration for Video Classification. 62
33026984 2022
50
Mesenchymal stromal cells from a progressive pseudorheumatoid dysplasia patient show altered osteogenic differentiation. 62
35462544 2022

Variations for Progressive Pseudorheumatoid Dysplasia

ClinVar genetic disease variations for Progressive Pseudorheumatoid Dysplasia:

5 (show all 45)
# 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.232T>C (p.Cys78Arg) SNV Pathogenic
6382 rs121908902 GRCh37: 6:112382377-112382377
GRCh38: 6:112061174-112061174
4 CCN6 NM_198239.2(CCN6):c.246del (p.Glu84fs) DEL Pathogenic
6383 rs797044438 GRCh37: 6:112382391-112382391
GRCh38: 6:112061188-112061188
5 CCN6 NM_198239.2(CCN6):c.48+2dup DUP Pathogenic
6384 rs797044439 GRCh37: 6:112375609-112375610
GRCh38: 6:112054406-112054407
6 CCN6 NM_198239.2(CCN6):c.862_863dup (p.Gln289fs) DUP Pathogenic
6385 rs863223286 GRCh37: 6:112390619-112390620
GRCh38: 6:112069416-112069417
7 CCN6 NM_198239.2(CCN6):c.43_44del (p.Ala15fs) DEL Pathogenic
6386 rs1554311394 GRCh37: 6:112375603-112375604
GRCh38: 6:112054400-112054401
8 CCN6 NM_198239.2(CCN6):c.1000T>C (p.Ser334Pro) SNV Pathogenic
6388 rs121908903 GRCh37: 6:112390758-112390758
GRCh38: 6:112069555-112069555
9 CCN6 NM_198239.2(CCN6):c.840del (p.Phe280fs) DEL Pathogenic
6389 rs797044440 GRCh37: 6:112390596-112390596
GRCh38: 6:112069393-112069393
10 CCN6 NM_198239.2(CCN6):c.589+1G>A SNV Pathogenic
252451 rs879255273 GRCh37: 6:112386201-112386201
GRCh38: 6:112064998-112064998
11 CCN6 NM_198239.2(CCN6):c.692del (p.Val231fs) DEL Pathogenic
627567 rs1562599153 GRCh37: 6:112389510-112389510
GRCh38: 6:112068307-112068307
12 CCN6 NM_198239.2(CCN6):c.799dup (p.Thr267fs) DUP Pathogenic
869151 rs1776805400 GRCh37: 6:112390552-112390553
GRCh38: 6:112069349-112069350
13 CCN6 NM_198239.2(CCN6):c.707del (p.Ser236fs) DEL Pathogenic
817946 rs1583586843 GRCh37: 6:112389525-112389525
GRCh38: 6:112068322-112068322
14 CCN6 NM_198239.2(CCN6):c.626_627del (p.Cys209fs) DEL Pathogenic
1323771 GRCh37: 6:112389443-112389444
GRCh38: 6:112068240-112068241
15 CCN6 NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) SNV Pathogenic
521955 rs781986930 GRCh37: 6:112390768-112390768
GRCh38: 6:112069565-112069565
16 CCN6 NM_198239.2(CCN6):c.1011_1014delinsATT (p.Cys337_Gln338delinsTer) INDEL Pathogenic
1683480 GRCh37: 6:112390769-112390772
GRCh38: 6:112069566-112069569
17 CCN6 NM_198239.2(CCN6):c.149G>A (p.Trp50Ter) SNV Pathogenic
1685603 GRCh37: 6:112382294-112382294
GRCh38: 6:112061091-112061091
18 CCN6 NM_198239.2(CCN6):c.80T>A (p.Leu27Ter) SNV Pathogenic
1687519 GRCh37: 6:112382225-112382225
GRCh38: 6:112061022-112061022
19 CCN6 NM_198239.2(CCN6):c.868_869del (p.Ser290fs) MICROSAT Pathogenic
453263 rs781838640 GRCh37: 6:112390624-112390625
GRCh38: 6:112069421-112069422
20 CCN6 NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) SNV Pathogenic
6381 rs121908901 GRCh37: 6:112382301-112382301
GRCh38: 6:112061098-112061098
21 CCN6 NM_198239.2(CCN6):c.740_741del (p.Cys247fs) MICROSAT Pathogenic/Likely Pathogenic
166615 rs727503755 GRCh37: 6:112389555-112389556
GRCh38: 6:112068352-112068353
22 CCN6 NM_198239.2(CCN6):c.589G>C (p.Ala197Pro) SNV Pathogenic/Likely Pathogenic
637051 rs1554313639 GRCh37: 6:112386200-112386200
GRCh38: 6:112064997-112064997
23 CCN6 NM_198239.2(CCN6):c.732_733del (p.Arg245fs) DEL Likely Pathogenic
1325362 GRCh37: 6:112389548-112389549
GRCh38: 6:112068345-112068346
24 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
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.783+14A>G SNV Uncertain Significance
903727 rs781966767 GRCh37: 6:112389615-112389615
GRCh38: 6:112068412-112068412
27 CCN6 NM_198239.2(CCN6):c.48+13C>T SNV Uncertain Significance
355055 rs375836805 GRCh37: 6:112375621-112375621
GRCh38: 6:112054418-112054418
28 CCN6 NM_198239.2(CCN6):c.29T>C (p.Leu10Pro) SNV Uncertain Significance
1030720 rs1776282450 GRCh37: 6:112375589-112375589
GRCh38: 6:112054386-112054386
29 CCN6 NM_198239.2(CCN6):c.183C>T (p.Cys61=) SNV Uncertain Significance
355062 rs886060987 GRCh37: 6:112382328-112382328
GRCh38: 6:112061125-112061125
30 CCN6 NM_198239.2(CCN6):c.535T>G (p.Cys179Gly) SNV Uncertain Significance
903725 rs782783177 GRCh37: 6:112386146-112386146
GRCh38: 6:112064943-112064943
31 CCN6 NM_198239.2(CCN6):c.757G>A (p.Asp253Asn) SNV Uncertain Significance
903726 rs140750750 GRCh37: 6:112389575-112389575
GRCh38: 6:112068372-112068372
32 CCN6 NM_198239.2(CCN6):c.131G>A (p.Arg44His) SNV Likely Benign
711335 rs782703789 GRCh37: 6:112382276-112382276
GRCh38: 6:112061073-112061073
33 CCN6 NM_198239.2(CCN6):c.91C>A (p.Pro31Thr) SNV Likely Benign
355059 rs145590972 GRCh37: 6:112382236-112382236
GRCh38: 6:112061033-112061033
34 CCN6 NM_198239.2(CCN6):c.327C>T (p.Tyr109=) SNV Likely Benign
355064 rs145747429 GRCh37: 6:112382472-112382472
GRCh38: 6:112061269-112061269
35 CCN6 NM_198239.2(CCN6):c.77C>T (p.Pro26Leu) SNV Likely Benign
355057 rs149609367 GRCh37: 6:112382222-112382222
GRCh38: 6:112061019-112061019
36 CCN6 NM_198239.2(CCN6):c.248G>A (p.Gly83Glu) SNV Benign/Likely Benign
638295 rs147337485 GRCh37: 6:112382393-112382393
GRCh38: 6:112061190-112061190
37 CCN6 NM_198239.2(CCN6):c.237C>T (p.Ala79=) SNV Benign
355063 rs112665393 GRCh37: 6:112382382-112382382
GRCh38: 6:112061179-112061179
38 CCN6 NM_198239.2(CCN6):c.168G>T (p.Gln56His) SNV Benign
355060 rs1230345 GRCh37: 6:112382313-112382313
GRCh38: 6:112061110-112061110
39 CCN6 NM_198239.2(CCN6):c.892A>C (p.Ile298Leu) SNV Benign
355066 rs34686812 GRCh37: 6:112390650-112390650
GRCh38: 6:112069447-112069447
40 CCN6 NM_198239.2(CCN6):c.78A>T (p.Pro26=) SNV Benign
355058 rs9487806 GRCh37: 6:112382223-112382223
GRCh38: 6:112061020-112061020
41 CCN6 NM_198239.2(CCN6):c.178C>T (p.Arg60Cys) SNV Benign
355061 rs17073260 GRCh37: 6:112382323-112382323
GRCh38: 6:112061120-112061120
42 CCN6 NM_198239.2(CCN6):c.366C>T (p.Cys122=) SNV Benign
776146 rs112686348 GRCh37: 6:112385977-112385977
GRCh38: 6:112064774-112064774
43 CCN6 NM_198239.2(CCN6):c.72T>C (p.Thr24=) SNV Benign
355056 rs1230346 GRCh37: 6:112382217-112382217
GRCh38: 6:112061014-112061014
44 CCN6 NM_198239.2(CCN6):c.807A>G (p.Gln269=) SNV Benign
355065 rs17219737 GRCh37: 6:112390565-112390565
GRCh38: 6:112069362-112069362
45 CCN6 NM_198239.2(CCN6):c.-254A>G SNV Benign
355054 rs3806964 GRCh37: 6:112375307-112375307
GRCh38: 6:112054104-112054104

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

73
# 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 11.14 CCN1 CAPZB
2
Show member pathways
10.72 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 extracellular matrix GO:0031012 9.1 COL10A1 CCN6 CCN1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.46 SLC2A10 CHST11
2 negative regulation of cell death GO:0060548 9.26 CCN6 CCN1
3 regulation of developmental process GO:0050793 8.62 CCN6 CCN1

Sources for Progressive Pseudorheumatoid Dysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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