PPAC
MCID: ART116
MIFTS: 45

Arthropathy, Progressive Pseudorheumatoid, of Childhood (PPAC)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Arthropathy, Progressive Pseudorheumatoid, of Childhood

MalaCards integrated aliases for Arthropathy, Progressive Pseudorheumatoid, of Childhood:

Name: Arthropathy, Progressive Pseudorheumatoid, of Childhood 58 54 13
Progressive Pseudorheumatoid Dysplasia 58 25 54 26 38 30 56 6
Progressive Pseudorheumatoid Arthropathy of Childhood 58 12 25 54 26 76 15
Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy 58 25 54 26
Sedt-Pa 58 25 54
Ppac 58 54 76
Spondyloepiphyseal Dysplasia Tarda-Progressive Arthropathy Syndrome 12 54
Progressive Pseudorheumatoid Chondrodysplasia 25 54
Ppd 58 54
Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy; Sedt-Pa 58
Spondyloepiphyseal Dysplasia Tarda - Progressive Arthropathy 54
Progressive Pseudorheumatoid Dysplasia; Ppd 58

Characteristics:

OMIM:

58
Miscellaneous:
waddling gait
walking difficulties
onset of disease 3-8 years

Inheritance:
autosomal recessive


HPO:

33
arthropathy, progressive pseudorheumatoid, of childhood:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthropathy, Progressive Pseudorheumatoid, of Childhood

NIH Rare Diseases : 54 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.   

MalaCards based summary : Arthropathy, Progressive Pseudorheumatoid, of Childhood, also known as progressive pseudorheumatoid dysplasia, is related to postpartum depression and czech dysplasia. An important gene associated with Arthropathy, Progressive Pseudorheumatoid, of Childhood is CCN6 (Cellular Communication Network Factor 6), and among its related pathways/superpathways are Adhesion and amb2 Integrin signaling. Affiliated tissues include bone, testes and lung, 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.

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 208230
GeneReviews: NBK327267

Related Diseases for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Diseases related to Arthropathy, Progressive Pseudorheumatoid, of Childhood via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 postpartum depression 11.6
2 czech dysplasia 11.4
3 1,4-phenylenediamine allergic contact dermatitis 11.1
4 paranoid personality disorder 11.1
5 spondyloepiphyseal dysplasia with congenital joint dislocations 10.6
6 spondyloepiphyseal dysplasia tarda, x-linked 10.6
7 pelger-huet anomaly 10.5
8 cataract 10.3
9 paraplegia 10.3
10 scoliosis 10.3
11 pulmonary tuberculosis 10.2
12 pleurisy 10.2
13 spondyloepiphyseal dysplasia, stanescu type 10.1
14 relapsing polychondritis 10.1
15 dermatitis 10.1
16 contact dermatitis 10.1
17 rheumatoid arthritis 10.1
18 arthritis 10.1
19 joint disorders 10.1
20 arthropathy 10.1
21 juvenile rheumatoid arthritis 10.1
22 multiple sclerosis 10.0
23 lepromatous leprosy 10.0
24 allergic contact dermatitis 10.0
25 meningitis 10.0
26 tuberculous meningitis 10.0
27 depression 10.0
28 mesothelioma, malignant 9.9
29 lung cancer 9.9
30 mycobacterium tuberculosis 1 9.9
31 cat-scratch disease 9.9
32 tetanus 9.9
33 uveitis 9.9
34 kwashiorkor 9.9
35 lymphadenitis 9.9
36 cervical adenitis 9.9
37 measles 9.9
38 rubella 9.9
39 anterior uveitis 9.9
40 autoimmune disease 9.8
41 biliary cirrhosis, primary, 1 9.8
42 breast cancer 9.8
43 pallister-hall syndrome 9.8
44 schizophrenia 9.8
45 small cell cancer of the lung 9.8
46 syndactyly, type iv 9.8
47 tibia, hypoplasia or aplasia of, with polydactyly 9.8
48 leprosy 3 9.8
49 body mass index quantitative trait locus 11 9.8
50 frontotemporal dementia 9.8

Graphical network of the top 20 diseases related to Arthropathy, Progressive Pseudorheumatoid, of Childhood:



Diseases related to Arthropathy, Progressive Pseudorheumatoid, of Childhood

Symptoms & Phenotypes for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Human phenotypes related to Arthropathy, Progressive Pseudorheumatoid, of Childhood:

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

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteoarthritis
joint stiffness
joint swelling

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:
platyspondyly
kyphoscoliosis
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

Drugs & Therapeutics for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Search Clinical Trials , NIH Clinical Center for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Genetic Tests for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Genetic tests related to Arthropathy, Progressive Pseudorheumatoid, of Childhood:

# Genetic test Affiliating Genes
1 Progressive Pseudorheumatoid Dysplasia 30 CCN6

Anatomical Context for Arthropathy, Progressive Pseudorheumatoid, of Childhood

MalaCards organs/tissues related to Arthropathy, Progressive Pseudorheumatoid, of Childhood:

42
Bone, Testes, Lung, Skin, Liver, Breast

Publications for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Articles related to Arthropathy, Progressive Pseudorheumatoid, of Childhood:

(show all 49)
# Title Authors Year
1
Progressive pseudorheumatoid dysplasia: a rare childhood disease. ( 30327864 )
2019
2
Progressive pseudorheumatoid dysplasia confirmed by whole-exon sequencing in a Chinese adult before corrective surgery. ( 30635069 )
2019
3
Progressive pseudorheumatoid dysplasia: a report of three cases and a review of radiographic and magnetic resonance imaging findings. ( 30712121 )
2019
4
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature. ( 30922245 )
2019
5
High Circulating Levels of IL-4 and IL-10 in Progressive Pseudorheumatoid Dysplasia Patient. ( 30946287 )
2019
6
Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia. ( 29258992 )
2018
7
Ilizarov technique in an adolescent patient with progressive pseudorheumatoid dysplasia: A case report. ( 30075503 )
2018
8
Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3. ( 30200995 )
2018
9
Progressive Pseudorheumatoid Dysplasia or JIA? ( 28316857 )
2017
10
Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report. ( 29246200 )
2017
11
An Unusual Coexistence of Progressive Pseudorheumatoid Dysplasia and Relapsing Polychondritis. ( 29900963 )
2016
12
Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported. ( 26991965 )
2016
13
Progressive pseudorheumatoid dysplasia: a close mimicker of juvenile idiopathic arthritis. ( 26961566 )
2016
14
Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India. ( 27291587 )
2016
15
WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198. ( 27436824 )
2016
16
Progressive Pseudorheumatoid Dysplasia Misdiagnosed as Seronegative Juvenile Idiopathic Arthritis. ( 27587938 )
2016
17
Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families. ( 28018607 )
2016
18
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. ( 26183434 )
2015
19
Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia. ( 25738435 )
2015
20
A novel compound WISP3 mutation in a Chinese family with progressive pseudorheumatoid dysplasia. ( 25794430 )
2015
21
Progressive Pseudorheumatoid Dysplasia With Delayed Diagnosis. ( 26274347 )
2015
22
A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings. ( 27081554 )
2015
23
Total hip arthroplasty in a 17-year-old girl with progressive pseudorheumatoid dysplasia. ( 23519177 )
2013
24
Diagnosis and surgical treatment of progressive pseudorheumatoid dysplasia in an adult with severe spinal disorders and polyarthropathy. ( 23618803 )
2013
25
Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies. ( 21993478 )
2012
26
Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia. ( 22685593 )
2012
27
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. ( 22791401 )
2012
28
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. ( 22987568 )
2012
29
[Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia]. ( 20426955 )
2010
30
Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia. ( 19064006 )
2009
31
Cellular and molecular responses in progressive pseudorheumatoid dysplasia articular cartilage associated with compound heterozygous WISP3 gene mutation. ( 17483925 )
2007
32
Progressive pseudorheumatoid dysplasia: three cases in one family. ( 17596985 )
2007
33
The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling. ( 17823661 )
2007
34
WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice. ( 15601861 )
2005
35
Clinical and radiological diagnosis of progressive pseudorheumatoid dysplasia in two sisters with severe polyarthropathy. ( 15877179 )
2005
36
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. ( 16152649 )
2005
37
Gene symbol: WISP3. Disease: spondyloepiphyseal dysplasia tarda with progressive arthropathy. ( 15300964 )
2004
38
Gene symbol: WISP3. Disease: spondyloepihyseal dysplasia tarda with progressive arthropathy. ( 15300987 )
2004
39
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. ( 12819927 )
2004
40
Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. ( 14730409 )
2004
41
Mega os trigonum in progressive pseudorheumatoid dysplasia. ( 11819063 )
2002
42
An eleven-year-old female Turkish patient with progressive pseudorheumatoid dysplasia mimicking juvenile idiopathic arthritis. ( 11791657 )
2001
43
Progressive pseudorheumatoid dysplasia. ( 11097416 )
2000
44
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. ( 10471507 )
1999
45
Fine mapping of progressive pseudorheumatoid dysplasia: a tool for heterozygote identification. ( 10627939 )
1999
46
Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22. ( 9737778 )
1998
47
Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. ( 9781029 )
1998
48
Progressive pseudorheumatoid dysplasia: report of a patient with symptoms present at birth. ( 9894165 )
1998
49
Progressive pseudorheumatoid dysplasia: report of a family and review. ( 9222963 )
1997

Variations for Arthropathy, Progressive Pseudorheumatoid, of Childhood

UniProtKB/Swiss-Prot genetic disease variations for Arthropathy, Progressive Pseudorheumatoid, of Childhood:

76
# 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
6 CCN6 p.Cys337Tyr VAR_081495
7 CCN6 p.Cys114Tyr VAR_081654
8 CCN6 p.Gly226Val VAR_081657
9 CCN6 p.Ser334Pro VAR_081659

ClinVar genetic disease variations for Arthropathy, Progressive Pseudorheumatoid, of Childhood:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCN6 WISP3, 2-BP DEL, 43GC deletion Pathogenic
2 CCN6 WISP3, 2-BP DEL, 866AG deletion Pathogenic
3 CCN6 NM_003880.3(CCN6): c.434G> A (p.Cys145Tyr) single nucleotide variant Pathogenic rs121908899 GRCh37 Chromosome 6, 112386045: 112386045
4 CCN6 NM_003880.3(CCN6): c.434G> A (p.Cys145Tyr) single nucleotide variant Pathogenic rs121908899 GRCh38 Chromosome 6, 112064842: 112064842
5 CCN6 NM_003880.3(CCN6): c.993G> A (p.Trp331Ter) single nucleotide variant Pathogenic rs121908900 GRCh37 Chromosome 6, 112390751: 112390751
6 CCN6 NM_003880.3(CCN6): c.993G> A (p.Trp331Ter) single nucleotide variant Pathogenic rs121908900 GRCh38 Chromosome 6, 112069548: 112069548
7 CCN6 NM_198239.1(CCN6): c.210C> A (p.Cys70Ter) single nucleotide variant Pathogenic rs121908901 GRCh37 Chromosome 6, 112382301: 112382301
8 CCN6 NM_198239.1(CCN6): c.210C> A (p.Cys70Ter) single nucleotide variant Pathogenic rs121908901 GRCh38 Chromosome 6, 112061098: 112061098
9 CCN6 NM_003880.3(CCN6): c.232T> C (p.Cys78Arg) single nucleotide variant Pathogenic rs121908902 GRCh37 Chromosome 6, 112382377: 112382377
10 CCN6 NM_003880.3(CCN6): c.232T> C (p.Cys78Arg) single nucleotide variant Pathogenic rs121908902 GRCh38 Chromosome 6, 112061174: 112061174
11 CCN6 NM_198239.1(CCN6): c.300del deletion Pathogenic rs797044438 GRCh37 Chromosome 6, 112382391: 112382391
12 CCN6 NM_198239.1(CCN6): c.300del deletion Pathogenic rs797044438 GRCh38 Chromosome 6, 112061188: 112061188
13 CCN6 NM_003880.3(CCN6): c.48+2dupT duplication Pathogenic rs797044439 GRCh37 Chromosome 6, 112375610: 112375610
14 CCN6 NM_003880.3(CCN6): c.48+2dupT duplication Pathogenic rs797044439 GRCh38 Chromosome 6, 112054407: 112054407
15 CCN6 NM_003880.3(CCN6): c.862_863dupAC (p.Gln289Leufs) duplication Pathogenic rs863223286 GRCh37 Chromosome 6, 112390620: 112390621
16 CCN6 NM_003880.3(CCN6): c.862_863dupAC (p.Gln289Leufs) duplication Pathogenic rs863223286 GRCh38 Chromosome 6, 112069417: 112069418
17 CCN6 NM_003880.3(CCN6): c.1000T> C (p.Ser334Pro) single nucleotide variant Pathogenic rs121908903 GRCh37 Chromosome 6, 112390758: 112390758
18 CCN6 NM_003880.3(CCN6): c.1000T> C (p.Ser334Pro) single nucleotide variant Pathogenic rs121908903 GRCh38 Chromosome 6, 112069555: 112069555
19 CCN6 NM_003880.3(CCN6): c.840delT (p.Phe280Leufs) deletion Pathogenic rs797044440 GRCh37 Chromosome 6, 112390598: 112390598
20 CCN6 NM_003880.3(CCN6): c.840delT (p.Phe280Leufs) deletion Pathogenic rs797044440 GRCh38 Chromosome 6, 112069395: 112069395
21 CCN6 NM_198239.1(CCN6): c.794_795delGT (p.Cys265Leufs) deletion Pathogenic/Likely pathogenic rs727503755 GRCh37 Chromosome 6, 112389558: 112389559
22 CCN6 NM_198239.1(CCN6): c.794_795delGT (p.Cys265Leufs) deletion Pathogenic/Likely pathogenic rs727503755 GRCh38 Chromosome 6, 112068355: 112068356
23 CCN6 NM_198239.1(CCN6): c.643+1G> A single nucleotide variant Pathogenic rs879255273 GRCh37 Chromosome 6, 112386201: 112386201
24 CCN6 NM_198239.1(CCN6): c.643+1G> A single nucleotide variant Pathogenic rs879255273 GRCh38 Chromosome 6, 112064998: 112064998
25 CCN6 NM_003880.3(CCN6): c.-81A> G single nucleotide variant Benign rs3806964 GRCh37 Chromosome 6, 112375307: 112375307
26 CCN6 NM_003880.3(CCN6): c.-81A> G single nucleotide variant Benign rs3806964 GRCh38 Chromosome 6, 112054104: 112054104
27 CCN6 NM_003880.3(CCN6): c.72T> C (p.Thr24=) single nucleotide variant Likely benign rs1230346 GRCh37 Chromosome 6, 112382217: 112382217
28 CCN6 NM_003880.3(CCN6): c.72T> C (p.Thr24=) single nucleotide variant Likely benign rs1230346 GRCh38 Chromosome 6, 112061014: 112061014
29 CCN6 NM_003880.3(CCN6): c.91C> A (p.Pro31Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs145590972 GRCh37 Chromosome 6, 112382236: 112382236
30 CCN6 NM_003880.3(CCN6): c.91C> A (p.Pro31Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs145590972 GRCh38 Chromosome 6, 112061033: 112061033
31 CCN6 NM_003880.3(CCN6): c.183C> T (p.Cys61=) single nucleotide variant Uncertain significance rs886060987 GRCh37 Chromosome 6, 112382328: 112382328
32 CCN6 NM_003880.3(CCN6): c.183C> T (p.Cys61=) single nucleotide variant Uncertain significance rs886060987 GRCh38 Chromosome 6, 112061125: 112061125
33 CCN6 NM_003880.3(CCN6): c.77C> T (p.Pro26Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149609367 GRCh37 Chromosome 6, 112382222: 112382222
34 CCN6 NM_003880.3(CCN6): c.77C> T (p.Pro26Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149609367 GRCh38 Chromosome 6, 112061019: 112061019
35 CCN6 NM_003880.3(CCN6): c.168G> T (p.Gln56His) single nucleotide variant Benign rs1230345 GRCh37 Chromosome 6, 112382313: 112382313
36 CCN6 NM_003880.3(CCN6): c.168G> T (p.Gln56His) single nucleotide variant Benign rs1230345 GRCh38 Chromosome 6, 112061110: 112061110
37 CCN6 NM_003880.3(CCN6): c.237C> T (p.Ala79=) single nucleotide variant Likely benign rs112665393 GRCh37 Chromosome 6, 112382382: 112382382
38 CCN6 NM_003880.3(CCN6): c.237C> T (p.Ala79=) single nucleotide variant Likely benign rs112665393 GRCh38 Chromosome 6, 112061179: 112061179
39 CCN6 NM_003880.3(CCN6): c.807A> G (p.Gln269=) single nucleotide variant Likely benign rs17219737 GRCh37 Chromosome 6, 112390565: 112390565
40 CCN6 NM_003880.3(CCN6): c.807A> G (p.Gln269=) single nucleotide variant Likely benign rs17219737 GRCh38 Chromosome 6, 112069362: 112069362
41 CCN6 NM_003880.3(CCN6): c.892A> C (p.Ile298Leu) single nucleotide variant Uncertain significance rs34686812 GRCh37 Chromosome 6, 112390650: 112390650
42 CCN6 NM_003880.3(CCN6): c.892A> C (p.Ile298Leu) single nucleotide variant Uncertain significance rs34686812 GRCh38 Chromosome 6, 112069447: 112069447
43 CCN6 NM_003880.3(CCN6): c.48+13C> T single nucleotide variant Uncertain significance rs375836805 GRCh37 Chromosome 6, 112375621: 112375621
44 CCN6 NM_003880.3(CCN6): c.48+13C> T single nucleotide variant Uncertain significance rs375836805 GRCh38 Chromosome 6, 112054418: 112054418
45 CCN6 NM_003880.3(CCN6): c.78A> T (p.Pro26=) single nucleotide variant Likely benign rs9487806 GRCh37 Chromosome 6, 112382223: 112382223
46 CCN6 NM_003880.3(CCN6): c.78A> T (p.Pro26=) single nucleotide variant Likely benign rs9487806 GRCh38 Chromosome 6, 112061020: 112061020
47 CCN6 NM_003880.3(CCN6): c.178C> T (p.Arg60Cys) single nucleotide variant Likely benign rs17073260 GRCh37 Chromosome 6, 112382323: 112382323
48 CCN6 NM_003880.3(CCN6): c.178C> T (p.Arg60Cys) single nucleotide variant Likely benign rs17073260 GRCh38 Chromosome 6, 112061120: 112061120
49 CCN6 NM_003880.3(CCN6): c.327C> T (p.Tyr109=) single nucleotide variant Uncertain significance rs145747429 GRCh37 Chromosome 6, 112382472: 112382472
50 CCN6 NM_003880.3(CCN6): c.327C> T (p.Tyr109=) single nucleotide variant Uncertain significance rs145747429 GRCh38 Chromosome 6, 112061269: 112061269

Expression for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Search GEO for disease gene expression data for Arthropathy, Progressive Pseudorheumatoid, of Childhood.

Pathways for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Pathways related to Arthropathy, Progressive Pseudorheumatoid, of Childhood according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.05 CCN1 CCN2
2 10.3 CCN1 CCN2

GO Terms for Arthropathy, Progressive Pseudorheumatoid, of Childhood

Cellular components related to Arthropathy, Progressive Pseudorheumatoid, of Childhood according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.33 CCN2 TRAPPC2 TRAPPC2B
2 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 8.96 TRAPPC2 TRAPPC2B
3 extracellular matrix GO:0031012 8.8 CCN1 CCN2 CCN6

Biological processes related to Arthropathy, Progressive Pseudorheumatoid, of Childhood according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.58 CCN1 CCN2 CCN6
2 positive regulation of protein phosphorylation GO:0001934 9.43 CCN1 CCN2
3 osteoblast differentiation GO:0001649 9.37 CCN1 IGFBP3
4 positive regulation of cell differentiation GO:0045597 9.32 CCN1 CCN2
5 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.26 CCN1 CCN2
6 reactive oxygen species metabolic process GO:0072593 9.16 CCN1 CCN2
7 negative regulation of cell death GO:0060548 9.13 CCN1 CCN2 CCN6
8 regulation of cell growth GO:0001558 8.32 IGFBP3

Molecular functions related to Arthropathy, Progressive Pseudorheumatoid, of Childhood according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.37 CCN2 CCN6
2 heparin binding GO:0008201 9.33 CCN1 CCN2 CCN6
3 growth factor binding GO:0019838 9.32 CCN1 IGFBP3
4 fibronectin binding GO:0001968 9.26 CCN2 IGFBP3
5 integrin binding GO:0005178 9.13 CCN1 CCN2 CCN6
6 insulin-like growth factor binding GO:0005520 8.92 CCN1 CCN2 CCN6 IGFBP3

Sources for Arthropathy, Progressive Pseudorheumatoid, of Childhood

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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