PSACH
MCID: PSD012
MIFTS: 58

Pseudoachondroplasia (PSACH)

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

Aliases & Classifications for Pseudoachondroplasia

MalaCards integrated aliases for Pseudoachondroplasia:

Name: Pseudoachondroplasia 56 12 74 24 52 25 58 73 36 13 43 15 71
Pseudoachondroplastic Dysplasia 56 12 52 25 58 73
Psach 56 24 52 25 73 54
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 52 25 29 6 39
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic 56 12 52
Pseudoachondroplastic Spondyloepiphyseal Dysplasia 52 58
Spondyloepiphyseal Dysplasia Pseudoachondroplastic 73

Characteristics:

Orphanet epidemiological data:

58
pseudoachondroplasia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
waddling gait
onset by age 2 years
infants show normal size and appearance
most patients need hip replacement by their mid-thirties
the characteristic changes in the spine resolve by adolescence
gonadal mosaicism may occur

Inheritance:
autosomal dominant


HPO:

31
pseudoachondroplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is 100%.

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080047
OMIM 56 177170
KEGG 36 H00477
MESH via Orphanet 44 C535819
ICD10 via Orphanet 33 Q77.8
UMLS via Orphanet 72 C0410538
Orphanet 58 ORPHA750
MedGen 41 C0410538
UMLS 71 C0410538

Summaries for Pseudoachondroplasia

Genetics Home Reference : 25 Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder. All people with pseudoachondroplasia have short stature. The average height of adult males with this condition is 120 centimeters (3 feet, 11 inches), and the average height of adult females is 116 centimeters (3 feet, 9 inches). Individuals with pseudoachondroplasia are not unusually short at birth; by the age of two, their growth rate falls below the standard growth curve. Other characteristic features of pseudoachondroplasia include short arms and legs; a waddling walk; joint pain in childhood that progresses to a joint disease known as osteoarthritis; an unusually large range of joint movement (hyperextensibility) in the hands, knees, and ankles; and a limited range of motion at the elbows and hips. Some people with pseudoachondroplasia have legs that turn outward or inward (valgus or varus deformity). Sometimes, one leg turns outward and the other inward, which is called windswept deformity. Some affected individuals have a spine that curves to the side (scoliosis) or an abnormally curved lower back (lordosis). People with pseudoachondroplasia have normal facial features, head size, and intelligence.

MalaCards based summary : Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to skeletal dysplasias and achondroplasia, and has symptoms including waddling gait and ulnar deviation of the wrist. An important gene associated with Pseudoachondroplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Resveratrol and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are abnormality of epiphysis morphology and delayed skeletal maturation

Disease Ontology : 12 An osteochondrodysplasia that has material basis in mutations in the COMP gene which results in short limb dwarfism.

NIH Rare Diseases : 52 Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature . Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis ), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene . This condition is inherited in an autosomal dominant pattern.

OMIM : 56 Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity. Vertebral anomalies, present in childhood, usually resolve with age, but osteoarthritis is progressive and severe. PSACH and EDM1 comprise a clinical spectrum with phenotypic overlap between mild forms of PSACH and EDM1 (summary by Briggs and Chapman, 2002). (177170)

KEGG : 36 Pseudoachondroplasia (PSACH) is a condition with short-limb, short stature, joint pain, and early-onset osteoarthrosis caused by epiphyseal ossification delay. PSACH is caused by mutations in COMP.

UniProtKB/Swiss-Prot : 73 Pseudoachondroplasia: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.

Wikipedia : 74 Pseudoachondroplasia is an inherited disorder of bone growth. It is a genetic autosomal dominant... more...

GeneReviews: NBK1487

Related Diseases for Pseudoachondroplasia

Diseases related to Pseudoachondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 skeletal dysplasias 31.5 MATN3 COMP COL2A1
2 achondroplasia 31.1 COMP COL2A1 ACAN
3 multiple epiphyseal dysplasia, autosomal dominant 30.7 MATN3 COMP COL9A3 COL9A2 COL9A1
4 spondyloepiphyseal dysplasia congenita 30.5 MATN3 COMP COL9A1 COL2A1
5 epiphyseal dysplasia, multiple, 1 30.5 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
6 cartilage disease 30.1 MATN1 COMP COL2A1 ACAN
7 multiple epiphyseal dysplasia 29.8 SLC26A2 MATN3 DCN COMP COL9A3 COL9A2
8 scoliosis 29.8 MATN1 DCN COMP COL2A1 ACAN
9 diastrophic dysplasia 29.7 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
10 bone disease 29.7 MATN3 DCN COMP COL2A1 ACAN
11 spondyloepiphyseal dysplasia with congenital joint dislocations 29.7 SLC26A2 COMP COL9A3 COL9A2 COL9A1 COL2A1
12 brittle bone disorder 29.5 P4HB DCN COMP COL2A1 ACAN
13 odontochondrodysplasia 29.1 SLC26A2 MATN3 MATN1 COMP COL9A3 COL9A2
14 osteoarthritis 29.0 MATN3 MATN1 HAPLN1 DCN COMP COL9A1
15 multiple epiphyseal dysplasia and pseudoachondroplasia 12.4
16 pseudoachondroplastic dysplasia 2 11.6
17 dwarfism 10.7
18 achondrogenesis, type ia 10.4 SLC26A2 COL2A1
19 vitreoretinal degeneration 10.4 COL9A2 COL2A1
20 back pain 10.4 COL9A3 COL9A2
21 scheuermann disease 10.4 COL9A3 COL2A1
22 asphyxiating thoracic dystrophy 10.4
23 chondrosarcoma 10.3
24 interstitial keratitis 10.3 DCN COL9A1
25 macroglossia 10.3 COL9A1 COL2A1
26 diffuse cutaneous systemic sclerosis 10.3 THBS1 COMP
27 eye degenerative disease 10.3 COL9A2 COL2A1
28 hypochondroplasia 10.3
29 pyle disease 10.3
30 brachydactyly 10.3
31 multiple epiphyseal dysplasia, recessive 10.3
32 odontogenic myxoma 10.2 DCN ACAN
33 simpson-golabi-behmel syndrome, type 1 10.2 COL2A1 ACAN
34 corneal dystrophy, posterior amorphous 10.2 FMOD DCN
35 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.2 COL9A3 COL9A2 COL9A1
36 autosomal recessive stickler syndrome 10.2 COL9A3 COL9A2 COL9A1
37 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.2 COL9A1 COL2A1
38 metatropic dysplasia 10.2
39 rickets 10.2
40 rare disease in surgical orthopedic 10.2
41 odontoid hypoplasia 10.2
42 brachyolmia 10.2 SLC26A2 COL2A1 ACAN
43 schneckenbecken dysplasia 10.1 SLC26A2 COL2A1
44 retinal detachment 10.1 COL9A2 COL9A1 COL2A1
45 fibrochondrogenesis 10.1 COL9A2 COL2A1 ACAN
46 babesiosis 10.1 THBS1 ADAMTSL1
47 corneal dystrophy, congenital stromal 10.1 FMOD DCN
48 arthropathy 10.1 COMP COL2A1 ACAN
49 macular dystrophy, corneal 10.1 FMOD DCN
50 bone inflammation disease 10.1 COMP COL2A1 ACAN

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to Pseudoachondroplasia

Symptoms & Phenotypes for Pseudoachondroplasia

Human phenotypes related to Pseudoachondroplasia:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
2 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
3 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
4 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
5 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
6 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
7 abnormality of the hip bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003272
8 disproportionate short-limb short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0008873
9 irregular carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0004236
10 osteoarthritis 58 31 very rare (1%) Frequent (79-30%) HP:0002758
11 scoliosis 58 31 very rare (1%) Frequent (79-30%) HP:0002650
12 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
13 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
14 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
15 platyspondyly 58 31 very rare (1%) Frequent (79-30%) HP:0000926
16 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
17 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
18 intestinal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0200008
19 hamartomatous polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0004390
20 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
21 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
22 genu varum 58 31 very rare (1%) Occasional (29-5%) HP:0002970
23 hypoplasia of the odontoid process 58 31 occasional (7.5%) Occasional (29-5%) HP:0003311
24 beaking of vertebral bodies 31 very rare (1%) HP:0004568
25 brachydactyly 31 very rare (1%) HP:0001156
26 limited shoulder movement 31 very rare (1%) HP:0006467
27 limited elbow extension 31 very rare (1%) HP:0001377
28 irregular epiphyses 31 very rare (1%) HP:0010582
29 bowing of the long bones 58 Very frequent (99-80%)
30 sensory neuropathy 31 HP:0000763
31 carpal bone hypoplasia 31 HP:0001498
32 short long bone 31 HP:0003026
33 genu recurvatum 31 HP:0002816
34 waddling gait 31 HP:0002515
35 joint laxity 31 HP:0001388
36 childhood onset short-limb short stature 31 HP:0011405
37 short distal phalanx of finger 31 HP:0009882
38 ulnar deviation of the wrist 31 HP:0003049
39 lumbar hyperlordosis 31 HP:0002938
40 atlantoaxial dislocation 31 HP:0003414
41 ulnar deviation of the hand 31 HP:0009487
42 delayed epiphyseal ossification 31 HP:0002663
43 degenerative joint disease 58 Frequent (79-30%)
44 cervical cord compression 31 HP:0002341
45 limited hip extension 31 HP:0003093
46 flared femoral metaphysis 31 HP:0002834
47 radial metaphyseal irregularity 31 HP:0004019
48 ulnar metaphyseal irregularity 31 HP:0004042
49 fragmented, irregular epiphyses 31 HP:0005063
50 small epiphyses of the phalanges of the hand 31 HP:0010236

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis
platyspondyly
atlantoaxial dislocation
lumbar lordosis
more
Skeletal Hands:
brachydactyly
small, irregular carpals

Head And Neck Head:
normocephaly

Head And Neck Face:
normal

Skeletal Pelvis:
irregular acetabulum
round ilium

Skeletal Limbs:
brachydactyly
ligamentous laxity
fragmented, irregular epiphyses
limited elbow and hip extension
short tubular bones
more
Skeletal:
joint laxity
chondrocytes showed large lamellar dilatations of rough endoplasmic reticulum on electron microscopy
delayed ossification
limitations of joint function
severe osteoarthropathy

Neurologic Central Nervous System:
normal intelligence
cervical cord compression myelopathy

Growth Height:
specific growth curves are available
short-limb dwarfism identifiable during childhood
adult height, 82-130 cm

Clinical features from OMIM:

177170

UMLS symptoms related to Pseudoachondroplasia:


waddling gait, ulnar deviation of the wrist

GenomeRNAi Phenotypes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 CANX COL9A2 HAPLN1 MATN1

MGI Mouse Phenotypes related to Pseudoachondroplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 CANX COL2A1 COMP DCN FMOD HAPLN1
2 immune system MP:0005387 9.85 CANX COL2A1 COL9A1 COMP DCN FMOD
3 limbs/digits/tail MP:0005371 9.65 COL2A1 COL9A1 COL9A2 COMP FMOD HAPLN1
4 skeleton MP:0005390 9.4 COL2A1 COL9A1 COL9A2 COMP DCN FMOD

Drugs & Therapeutics for Pseudoachondroplasia

Drugs for Pseudoachondroplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Resveratrol Approved, Experimental, Investigational Phase 2 501-36-0 445154
2 Anti-Inflammatory Agents Phase 2
3 Analgesics, Non-Narcotic Phase 2
4 Platelet Aggregation Inhibitors Phase 2
5 Anti-Inflammatory Agents, Non-Steroidal Phase 2
6 Antioxidants Phase 2
7 Antirheumatic Agents Phase 2
8 Protective Agents Phase 2
9 Analgesics Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Resveratrol Trial for Relief of Pain in Pseudoachondroplasia Not yet recruiting NCT03866200 Phase 2 resveratrol;Placebo

Search NIH Clinical Center for Pseudoachondroplasia

Cochrane evidence based reviews: pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

Genetic tests related to Pseudoachondroplasia:

# Genetic test Affiliating Genes
1 Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 29

Anatomical Context for Pseudoachondroplasia

MalaCards organs/tissues related to Pseudoachondroplasia:

40
Bone, Bone Marrow, Eye

Publications for Pseudoachondroplasia

Articles related to Pseudoachondroplasia:

(show top 50) (show all 255)
# Title Authors PMID Year
1
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. 54 61 24 56 6
11968079 2002
2
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 54 61 24 56 6
11746045 2001
3
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene. 54 61 24 56 6
9887340 1999
4
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. 54 61 24 56 6
7670471 1995
5
Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]. 54 61 56 6
9632164 1998
6
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. 54 61 56 6
7670472 1995
7
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. 54 61 24 56
19808781 2010
8
A disorder resembling pseudoachondroplasia but without COMP mutation. 54 61 24 56
15551305 2005
9
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. 54 61 24 6
12483304 2003
10
Disease-causing mutations in cartilage oligomeric matrix protein cause an unstructured Ca2+ binding domain. 54 61 24 6
11782471 2002
11
A cartilage oligomeric matrix protein mutation associated with pseudoachondroplasia changes the structural and functional properties of the type 3 domain. 54 61 24 56
10753957 2000
12
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. 54 61 24 6
9463320 1998
13
Mosaicism in pseudoachondroplasia. 54 61 24 56
9188668 1997
14
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. 61 24 56
22006726 2012
15
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 61 24 56
21922596 2012
16
Double heterozygosity in bone growth disorders: four new observations and review. 61 24 56
12923858 2003
17
Natural history study of pseudoachondroplasia. 61 24 56
8725795 1996
18
Gonadal mosaicism in pseudoachondroplasia. 61 24 56
3314506 1987
19
Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds). 61 24 56
3783619 1986
20
A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia. 61 24 56
4333078 1972
21
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. 54 61 56
17579668 2007
22
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. 54 61 56
15266613 2004
23
Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways. 54 61 56
12189245 2002
24
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. 54 61 6
9921895 1998
25
An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype. 54 61 24
19762713 2009
26
Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. 54 61 24
17588960 2007
27
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. 54 61 24
16928687 2006
28
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. 54 61 24
15880723 2005
29
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. 54 61 24
15756302 2005
30
Pseudoachondroplasia 61 6
20301660 2004
31
Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. 54 61 24
11746044 2001
32
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. 54 61 24
11891674 2001
33
Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changes. 54 61 24
10852928 2000
34
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. 54 61 24
10405447 1999
35
Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia. 54 61 24
9880218 1998
36
Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes. 54 61 24
9923655 1998
37
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix. 61 56
7907311 1994
38
Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19. 61 56
8307576 1993
39
Linkage of typical pseudoachondroplasia to chromosome 19. 61 56
8307577 1993
40
Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type. 61 56
8267011 1993
41
Pseudoachondroplastic dysplasia. 61 56
8169872 1993
42
Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. 61 56
8465858 1993
43
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia. 61 56
1442879 1992
44
The biochemical defect of pseudoachondroplasia. 61 56
7117284 1982
45
Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia. 61 24
28685811 2018
46
The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review). 61 24
25824717 2015
47
Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias. 61 24
24595329 2014
48
Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures. 61 24
23951406 2013
49
Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases. 61 24
24312420 2013
50
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. 61 24
22154935 2012

Variations for Pseudoachondroplasia

ClinVar genetic disease variations for Pseudoachondroplasia:

6 (show top 50) (show all 63) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COMP NM_000095.3(COMP):c.1414G>T (p.Asp472Tyr)SNV Pathogenic 9183 rs137852650 19:18896850-18896850 19:18786040-18786040
2 COMP NM_000095.3(COMP):c.1403G>A (p.Cys468Tyr)SNV Pathogenic 9184 rs137852651 19:18896861-18896861 19:18786051-18786051
3 COMP COMP, 3-BP DEL, 459TCAdeletion Pathogenic 9185
4 COMP COMP, 3-BP DEL, (GAC)4deletion Pathogenic 9186
5 COMP NM_000095.3(COMP):c.982T>C (p.Cys328Arg)SNV Pathogenic 9188 rs137852653 19:18898453-18898453 19:18787644-18787644
6 COMP NM_000095.3(COMP):c.1418A>G (p.Asp473Gly)SNV Pathogenic 9191 rs28936669 19:18896846-18896846 19:18786036-18786036
7 COMP NM_000095.3(COMP):c.1405_1407GAC[7] (p.Asp472_Asp473dup)short repeat Pathogenic 9192 19:18896844-18896845 19:18786034-18786035
8 COMP NM_000095.2(COMP):c.1417_1419dupGAC (p.Asp473_Asn474insAsp)short repeat Pathogenic 9193 rs193922900 19:18896844-18896845 19:18786034-18786035
9 COMP NM_000095.3(COMP):c.2156G>A (p.Gly719Asp)SNV Pathogenic 9194 rs137852655 19:18893935-18893935 19:18783125-18783125
10 COMP NM_000095.3(COMP):c.1042T>C (p.Cys348Arg)SNV Pathogenic 9195 rs137852656 19:18898393-18898393 19:18787584-18787584
11 COMP COMP, 533-BP DEL, EX9deletion Pathogenic 9196
12 COMP COMP, 3-BP DEL, (GAC)2deletion Pathogenic 35474
13 COMP NM_000095.2:c.1679A>GSNV Pathogenic 40991
14 COMP NM_000095.3(COMP):c.1747G>A (p.Glu583Lys)SNV Pathogenic 40992 rs312262899 19:18895873-18895873 19:18785063-18785063
15 COMP NM_000095.3(COMP):c.1754C>A (p.Thr585Lys)SNV Pathogenic 40993 rs312262900 19:18895866-18895866 19:18785056-18785056
16 COMP NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)SNV Pathogenic 40994 rs312262900 19:18895866-18895866 19:18785056-18785056
17 COMP NM_000095.3(COMP):c.1754C>T (p.Thr585Met)SNV Pathogenic 40995 rs312262900 19:18895866-18895866 19:18785056-18785056
18 COMP NM_000095.3(COMP):c.2155G>A (p.Gly719Ser)SNV Pathogenic 40997 rs312262904 19:18893936-18893936 19:18783126-18783126
19 COMP NM_000095.3(COMP):c.1552G>C (p.Asp518His)SNV Pathogenic 803547 19:18896599-18896599 19:18785789-18785789
20 COMP NM_000095.3(COMP):c.1368_1370GGA[1] (p.Glu457del)short repeat Pathogenic 807399 19:18896891-18896893 19:18786081-18786083
21 COMP NM_000095.3(COMP):c.1405_1407GAC[4] (p.Asp473del)short repeat Pathogenic/Likely pathogenic 40988 rs193922900 19:18896845-18896847 19:18786035-18786037
22 COMP NM_000095.3(COMP):c.1760A>G (p.His587Arg)SNV Likely pathogenic 40996 rs312262901 19:18895860-18895860 19:18785050-18785050
23 COMP NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr)SNV Likely pathogenic 803548 19:18896949-18896949 19:18786139-18786139
24 COMP NM_000095.3(COMP):c.950A>T (p.Asp317Val)SNV Likely pathogenic 803549 19:18899046-18899046 19:18788237-18788237
25 COMP NM_000095.3(COMP):c.818A>T (p.Asp273Val)SNV Likely pathogenic 803550 19:18899268-18899268 19:18788459-18788459
26 COMP NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr)SNV Likely pathogenic 438839 rs1555791556 19:18898309-18898309 19:18787500-18787500
27 COMP NM_000095.3(COMP):c.868-4C>TSNV Conflicting interpretations of pathogenicity 328616 rs529806631 19:18899132-18899132 19:18788323-18788323
28 COMP NM_000095.3(COMP):c.87C>T (p.Asp29=)SNV Uncertain significance 328630 rs759794906 19:18901737-18901737 19:18790928-18790928
29 COMP NM_000095.3(COMP):c.69G>A (p.Gln23=)SNV Uncertain significance 328631 rs886054307 19:18902010-18902010 19:18791201-18791201
30 COMP NM_000095.3(COMP):c.218-14C>GSNV Uncertain significance 328627 rs150008764 19:18900937-18900937 19:18790128-18790128
31 COMP NM_000095.3(COMP):c.1586C>T (p.Thr529Ile)SNV Uncertain significance 40990 rs312262903 19:18896565-18896565 19:18785755-18785755
32 COMP NM_000095.3(COMP):c.1993C>A (p.Arg665=)SNV Uncertain significance 328610 rs370202476 19:18895095-18895095 19:18784285-18784285
33 COMP NM_000095.3(COMP):c.1836C>G (p.Val612=)SNV Uncertain significance 328612 rs886054302 19:18895784-18895784 19:18784974-18784974
34 COMP NM_000095.3(COMP):c.763-6C>GSNV Uncertain significance 328618 rs886054303 19:18899329-18899329 19:18788520-18788520
35 COMP NM_000095.3(COMP):c.588G>A (p.Val196=)SNV Uncertain significance 328620 rs201165293 19:18899663-18899663 19:18788854-18788854
36 COMP NM_000095.3(COMP):c.377C>T (p.Thr126Ile)SNV Uncertain significance 328624 rs886054305 19:18900764-18900764 19:18789955-18789955
37 COMP NM_000095.3(COMP):c.1489+2T>ASNV Uncertain significance 430605 rs1131692038 19:18896773-18896773 19:18785963-18785963
38 COMP NM_000095.3(COMP):c.410T>C (p.Phe137Ser)SNV Uncertain significance 328623 rs757094319 19:18900087-18900087 19:18789278-18789278
39 COMP NM_000095.3(COMP):c.1590C>A (p.Asp530Glu)SNV Uncertain significance 328615 rs759687021 19:18896561-18896561 19:18785751-18785751
40 COMP NM_000095.3(COMP):c.867+11G>ASNV Uncertain significance 328617 rs776412620 19:18899208-18899208 19:18788399-18788399
41 COMP NM_000095.3(COMP):c.566A>G (p.His189Arg)SNV Uncertain significance 328621 rs199792797 19:18899685-18899685 19:18788876-18788876
42 COMP NM_000095.3(COMP):c.165+9C>ASNV Uncertain significance 328629 rs886054306 19:18901650-18901650 19:18790841-18790841
43 COMP NM_000095.3(COMP):c.*111A>GSNV Uncertain significance 328606 rs886054301 19:18893614-18893614 19:18782804-18782804
44 COMP NM_000095.3(COMP):c.1979C>G (p.Thr660Arg)SNV Uncertain significance 328611 rs150534218 19:18895109-18895109 19:18784299-18784299
45 COMP NM_000095.3(COMP):c.1668+13T>GSNV Uncertain significance 328613 rs74432818 19:18896470-18896470 19:18785660-18785660
46 COMP NM_000095.3(COMP):c.620G>A (p.Gly207Asp)SNV Uncertain significance 328619 rs886054304 19:18899543-18899543 19:18788734-18788734
47 COMP NM_000095.3(COMP):c.-9G>TSNV Likely benign 328632 rs186562511 19:18902087-18902087 19:18791278-18791278
48 COMP NM_000095.2(COMP):c.*155G>CSNV Likely benign 369261 rs537572167 19:18893570-18893570 19:18782760-18782760
49 COMP NM_000095.3(COMP):c.218-7C>GSNV Likely benign 328626 rs554031979 19:18900930-18900930 19:18790121-18790121
50 COMP NM_000095.3(COMP):c.*92G>ASNV Likely benign 328607 rs9407 19:18893633-18893633 19:18782823-18782823

UniProtKB/Swiss-Prot genetic disease variations for Pseudoachondroplasia:

73 (show all 30)
# Symbol AA change Variation ID SNP ID
1 COMP p.Asp290Asn VAR_007614
2 COMP p.Gly299Arg VAR_007615
3 COMP p.Cys328Arg VAR_007616 rs137852653
4 COMP p.Asp349Val VAR_007618
5 COMP p.Cys387Gly VAR_007625
6 COMP p.Gly440Glu VAR_007628
7 COMP p.Gly440Arg VAR_007629
8 COMP p.Cys468Tyr VAR_007632 rs137852651
9 COMP p.Asp472Tyr VAR_007634 rs137852650
10 COMP p.Asp473Gly VAR_007635 rs28936669
11 COMP p.Asp482Gly VAR_007637
12 COMP p.Asp518Asn VAR_007639 rs135998403
13 COMP p.Thr585Met VAR_007641 rs312262900
14 COMP p.Thr585Arg VAR_007642 rs312262900
15 COMP p.Cys348Arg VAR_017102 rs137852656
16 COMP p.Gly719Asp VAR_017103 rs137852655
17 COMP p.Pro234Ser VAR_066790 rs557483957
18 COMP p.Asp290Gly VAR_066791
19 COMP p.Asp326Tyr VAR_066796
20 COMP p.Asp378Val VAR_066803
21 COMP p.Cys387Arg VAR_066807
22 COMP p.Asp446Asn VAR_066815
23 COMP p.Cys448Ser VAR_066816
24 COMP p.Asp473His VAR_066819
25 COMP p.Asp475Asn VAR_066820
26 COMP p.Asp507Gly VAR_066822
27 COMP p.Asp511Gly VAR_066823
28 COMP p.Asp515Gly VAR_066824
29 COMP p.Thr529Ile VAR_066825 rs312262903
30 COMP p.Gly719Ser VAR_066828 rs312262904

Expression for Pseudoachondroplasia

Search GEO for disease gene expression data for Pseudoachondroplasia.

Pathways for Pseudoachondroplasia

Pathways related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 THBS1 HAPLN1 COL9A3 COL9A2 COL9A1 COL2A1
2
Show member pathways
12.88 HAPLN1 COL9A3 COL9A2 COL9A1 COL2A1 ACAN
3
Show member pathways
12.76 THBS3 THBS1 HSP90B1 COMP COL9A3 COL9A2
4
Show member pathways
12.72 THBS3 THBS1 COMP COL9A3 COL9A2 COL9A1
5
Show member pathways
12.65 P4HB COL9A3 COL9A2 COL9A1 COL2A1
6
Show member pathways
12.09 THBS1 P4HB MATN3 MATN1 HAPLN1 FMOD
7
Show member pathways
11.99 THBS3 THBS1 COMP COL9A3 COL9A2 COL9A1
8 11.96 THBS3 THBS1 COMP CANX
9
Show member pathways
11.93 THBS1 FMOD DCN ADAMTSL1 ACAN
10 11.7 THBS1 FMOD DCN
11 11.41 MATN3 MATN1 HAPLN1 FMOD DCN COMP
12 11.37 THBS3 THBS1 COMP
13 11.2 COL9A3 COL9A2 COL9A1
14 11.19 HAPLN1 FMOD DCN COMP COL2A1 ACAN
15
Show member pathways
10.88 FMOD ACAN
16 10.81 HAPLN1 COL9A3 COL9A2 COL9A1 COL2A1 ACAN

GO Terms for Pseudoachondroplasia

Cellular components related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.16 THBS3 THBS1 P4HB MATN3 MATN1 HSP90B1
2 extracellular space GO:0005615 10.07 THBS1 MATN3 MATN1 FMOD DCN COMP
3 endoplasmic reticulum lumen GO:0005788 9.85 THBS1 P4HB MATN3 HSP90B1 COL9A3 COL9A2
4 extracellular matrix GO:0031012 9.73 THBS1 MATN3 MATN1 HAPLN1 FMOD DCN
5 collagen trimer GO:0005581 9.71 COL9A3 COL9A2 COL9A1 COL2A1
6 Golgi lumen GO:0005796 9.67 FMOD DCN ACAN
7 melanosome GO:0042470 9.65 P4HB HSP90B1 CANX
8 lysosomal lumen GO:0043202 9.63 FMOD DCN ACAN
9 collagen type IX trimer GO:0005594 9.5 COL9A3 COL9A2 COL9A1
10 collagen-containing extracellular matrix GO:0062023 9.47 THBS3 THBS1 MATN3 MATN1 HSP90B1 HAPLN1
11 endoplasmic reticulum chaperone complex GO:0034663 9.43 P4HB HSP90B1

Biological processes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.88 THBS3 THBS1 HAPLN1 COMP ACAN
2 animal organ morphogenesis GO:0009887 9.74 DCN COMP COL9A1
3 central nervous system development GO:0007417 9.72 HAPLN1 COL2A1 ACAN
4 ossification GO:0001503 9.63 SLC26A2 COMP COL2A1
5 response to endoplasmic reticulum stress GO:0034976 9.58 THBS1 P4HB HSP90B1
6 negative regulation of endothelial cell migration GO:0010596 9.56 THBS1 DCN
7 regulation of bone mineralization GO:0030500 9.54 MATN1 COMP
8 chondrocyte development GO:0002063 9.52 COMP ACAN
9 cartilage condensation GO:0001502 9.51 COL2A1 ACAN
10 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.49 MATN3 MATN1
11 collagen fibril organization GO:0030199 9.46 FMOD COMP COL2A1 ACAN
12 keratan sulfate catabolic process GO:0042340 9.43 FMOD ACAN
13 cartilage development GO:0051216 9.43 MATN3 COMP COL2A1
14 skeletal system development GO:0001501 9.43 MATN3 HAPLN1 COMP COL9A2 COL2A1 ACAN
15 protein folding in endoplasmic reticulum GO:0034975 9.37 HSP90B1 CANX
16 extracellular matrix organization GO:0030198 9.36 THBS1 MATN3 MATN1 HAPLN1 DCN COMP
17 growth plate cartilage development GO:0003417 9.32 THBS3 COMP

Molecular functions related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.76 THBS3 THBS1 MATN3 MATN1 HSP90B1 COMP
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.56 COL9A3 COL9A2 COL9A1 COL2A1
3 integrin binding GO:0005178 9.54 THBS1 P4HB COMP
4 proteoglycan binding GO:0043394 9.5 THBS1 COMP COL2A1
5 extracellular matrix structural constituent GO:0005201 9.32 THBS3 THBS1 MATN3 MATN1 COMP COL9A3
6 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.26 HAPLN1 FMOD DCN ACAN

Sources for Pseudoachondroplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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