MCID: PSD012
MIFTS: 50

Pseudoachondroplasia

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

Aliases & Classifications for Pseudoachondroplasia

MalaCards integrated aliases for Pseudoachondroplasia:

Name: Pseudoachondroplasia 57 12 76 24 53 25 59 75 37 13 15 73
Pseudoachondroplastic Dysplasia 57 12 53 25 59 75
Psach 57 24 53 25 75 55
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 53 25 29 6 40
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic 57 12 53
Pseudoachondroplastic Spondyloepiphyseal Dysplasia 53 59
Spondyloepiphyseal Dysplasia Pseudoachondroplastic 75

Characteristics:

Orphanet epidemiological data:

59
pseudoachondroplasia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
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:

32
pseudoachondroplasia:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is 100%...

Classifications:



External Ids:

OMIM 57 177170
Disease Ontology 12 DOID:0080047
Orphanet 59 ORPHA750
MESH via Orphanet 45 C535819
UMLS via Orphanet 74 C0410538
ICD10 via Orphanet 34 Q77.8
MedGen 42 C0410538
MeSH 44 D010009
KEGG 37 H00477
UMLS 73 C0410538

Summaries for Pseudoachondroplasia

OMIM : 57 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)

MalaCards based summary : Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to diastrophic dysplasia and spondyloepiphyseal dysplasia congenita, and has symptoms including ulnar deviation of the wrist and waddling gait. An important gene associated with Pseudoachondroplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Affiliated tissues include bone, and related phenotypes are osteoarthritis and genu valgum

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

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.

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

Wikipedia : 76 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 all 40)
# Related Disease Score Top Affiliating Genes
1 diastrophic dysplasia 30.3 COMP SLC26A2
2 spondyloepiphyseal dysplasia congenita 30.3 COMP SLC26A2
3 achondroplasia 29.5 ACAN COMP
4 multiple epiphyseal dysplasia 26.5 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3
5 pseudoachondroplastic dysplasia 2 11.0
6 achondrogenesis 10.2 COL9A2 SLC26A2
7 kniest dysplasia 10.2 COMP FMOD
8 back pain 10.1 COL9A2 COL9A3
9 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
10 skeletal dysplasias 10.0 COMP MATN3 SLC26A2
11 cervicitis 9.9
12 dwarfism 9.9
13 atelosteogenesis 9.9 COL9A2 COMP SLC26A2
14 cartilage disease 9.9 ACAN COMP
15 transient arthritis 9.9 ACAN COMP
16 achondrogenesis, type ia 9.8 ACAN SLC26A2
17 aging 9.8
18 asthma 9.8
19 brittle bone disorder 9.8
20 odontoid hypoplasia 9.8
21 tendinopathy 9.8
22 cystic kidney disease 9.8
23 cerebritis 9.8
24 myopathy 9.8
25 intervertebral disc disease 9.8 COL9A2 COL9A3
26 degenerative disc disease 9.6 ACAN COL9A3
27 bone structure disease 9.5 ACAN COL9A3
28 bone development disease 9.5 COL9A2 COMP MATN3 SLC26A2
29 multiple epiphyseal dysplasia due to collagen 9 anomaly 9.5 COL9A1 COL9A2 COL9A3
30 autosomal recessive stickler syndrome 9.5 COL9A1 COL9A2 COL9A3
31 bone inflammation disease 9.4 ACAN COMP
32 stickler syndrome 9.4 COL9A1 COL9A2 COL9A3
33 achondrogenesis, type ii 9.3 ACAN COMP FMOD
34 hypochondrogenesis 9.3 ACAN COMP FMOD
35 myopia 9.3 COL9A1 COL9A2 FMOD
36 arthropathy 9.2 ACAN COMP
37 bone deterioration disease 9.2 ACAN COL9A2 COL9A3
38 osteoarthritis 8.8 ACAN COL9A1 COMP MATN3
39 spinal stenosis 8.5 ACAN COL9A1 COL9A2 COL9A3
40 osteochondritis dissecans 7.7 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to Pseudoachondroplasia

Symptoms & Phenotypes for Pseudoachondroplasia

Symptoms via clinical synopsis from OMIM:

57
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
limited elbow and hip extension
short tubular bones
'telescoping' fingers
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

Human phenotypes related to Pseudoachondroplasia:

59 32 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
2 genu valgum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002857
3 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
4 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
5 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
6 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
7 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
8 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
9 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
10 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
11 platyspondyly 59 32 frequent (33%) Frequent (79-30%) HP:0000926
12 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
13 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
14 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
15 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
16 abnormality of the hip bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003272
17 genu varum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002970
18 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
19 intestinal polyposis 59 32 frequent (33%) Frequent (79-30%) HP:0200008
20 hamartomatous polyposis 59 32 frequent (33%) Frequent (79-30%) HP:0004390
21 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
22 hypoplasia of the odontoid process 59 32 occasional (7.5%) Occasional (29-5%) HP:0003311
23 irregular carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0004236
24 bowing of the long bones 59 Very frequent (99-80%)
25 beaking of vertebral bodies 32 HP:0004568
26 sensory neuropathy 32 HP:0000763
27 carpal bone hypoplasia 32 HP:0001498
28 short long bone 32 HP:0003026
29 genu recurvatum 32 HP:0002816
30 brachydactyly 32 HP:0001156
31 joint laxity 32 HP:0001388
32 childhood onset short-limb short stature 32 HP:0011405
33 short distal phalanx of finger 32 HP:0009882
34 ulnar deviation of the wrist 32 HP:0003049
35 lumbar hyperlordosis 32 HP:0002938
36 limited elbow extension 32 HP:0001377
37 waddling gait 32 HP:0002515
38 irregular epiphyses 32 HP:0010582
39 delayed epiphyseal ossification 32 HP:0002663
40 degenerative joint disease 59 Frequent (79-30%)
41 atlantoaxial dislocation 32 HP:0003414
42 fragmented, irregular epiphyses 32 HP:0005063
43 cervical cord compression 32 HP:0002341
44 limited hip extension 32 HP:0003093
45 ulnar deviation of the hand 32 HP:0009487
46 flared femoral metaphysis 32 HP:0002834
47 radial metaphyseal irregularity 32 HP:0004019
48 ulnar metaphyseal irregularity 32 HP:0004042
49 small epiphyses of the phalanges of the hand 32 HP:0010236
50 spatulate ribs 32 HP:0012307

UMLS symptoms related to Pseudoachondroplasia:


ulnar deviation of the wrist, waddling gait

MGI Mouse Phenotypes related to Pseudoachondroplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.43 COL9A1 COL9A2 COMP FMOD MATN3 SLC26A2
2 skeleton MP:0005390 9.1 COL9A1 COL9A2 COMP FMOD MATN3 SLC26A2

Drugs & Therapeutics for Pseudoachondroplasia

Search Clinical Trials , NIH Clinical Center for Pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

Genetic tests related to Pseudoachondroplasia:

# Genetic test Affiliating Genes
1 Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 29 COMP

Anatomical Context for Pseudoachondroplasia

MalaCards organs/tissues related to Pseudoachondroplasia:

41
Bone

Publications for Pseudoachondroplasia

Articles related to Pseudoachondroplasia:

(show top 50) (show all 115)
# Title Authors Year
1
Two novel mutations of <i>COMP</i> in Japanese boys with pseudoachondroplasia. ( 29899997 )
2018
2
Novel mutations in the cartilage oligomeric matrix protein gene identified in two Taiwanese patients with pseudoachondroplasia and multiple epiphyseal dysplasia. ( 29162415 )
2017
3
Novel therapeutic interventions for pseudoachondroplasia. ( 28336490 )
2017
4
Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia. ( 28685811 )
2017
5
Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel<i>COMP</i>Mutation. ( 29104872 )
2017
6
Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation. ( 28044000 )
2017
7
A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia. ( 27330822 )
2016
8
Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia. ( 27432013 )
2016
9
Dynamic Lower Extremity Deformity in Children With Pseudoachondroplasia. ( 27299778 )
2016
10
Pseudoachondroplasia and painful sequelae. ( 26177939 )
2015
11
Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia. ( 25859006 )
2015
12
Pseudoachondroplasia/COMP - translating from the bench to the bedside. ( 24892720 )
2014
13
Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasia. ( 24558358 )
2014
14
A novel COMP mutation in a Chinese patient with pseudoachondroplasia. ( 23562786 )
2013
15
[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child]. ( 24229584 )
2013
16
Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia. ( 24194321 )
2013
17
Pseudoachondroplasia: a case report. ( 24364233 )
2013
18
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. ( 22006726 )
2012
19
Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz. ( 22426567 )
2012
20
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. ( 22154935 )
2012
21
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. ( 21922596 )
2012
22
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. ( 21644213 )
2011
23
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin. ( 21599986 )
2011
24
Difficult to control asthma in the patient with pseudoachondroplasia. ( 22675014 )
2011
25
Ilizarov treatment for extreme bilateral genu recurvatum in a pseudoachondroplasia patient: a case report. ( 20306977 )
2010
26
Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. ( 20819661 )
2010
27
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. ( 20830670 )
2010
28
COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype. ( 21042783 )
2010
29
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. ( 19808781 )
2010
30
An inducible cartilage oligomeric matrix protein mouse model recapitulates human pseudoachondroplasia phenotype. ( 19762713 )
2009
31
Novel human pathological mutations. Gene symbol: COMP. Disease: pseudoachondroplasia. ( 19320037 )
2009
32
Pseudoachondroplasia: A rare cause of rhizomelic dwarfism. ( 19753240 )
2008
33
Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia. ( 18546327 )
2008
34
Upper cervical spine instability in pseudoachondroplasia. ( 17878785 )
2007
35
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes. ( 17200202 )
2007
36
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. ( 17579668 )
2007
37
Deformity correction with external fixator in pseudoachondroplasia. ( 16957646 )
2007
38
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. ( 17588960 )
2007
39
Retention of the matricellular protein SPARC in the endoplasmic reticulum of chondrocytes from patients with pseudoachondroplasia. ( 16286662 )
2006
40
Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion. ( 16928687 )
2006
41
Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype. ( 16514635 )
2006
42
Novel and recurrent exon 13 mutations of COMP in pseudoachondroplasia. ( 15523619 )
2005
43
A disorder resembling pseudoachondroplasia but without COMP mutation. ( 15551305 )
2005
44
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. ( 15756302 )
2005
45
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. ( 15880723 )
2005
46
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. ( 15266613 )
2004
47
Mesomelic dwarfism in pseudoachondroplasia. ( 15552564 )
2004
48
Characterization of a pseudoachondroplasia-associated mutation (His587--&amp;gt;Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). ( 14580238 )
2004
49
Role of TSP-5/COMP in pseudoachondroplasia. ( 15094116 )
2004
50
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. ( 15183431 )
2004

Variations for Pseudoachondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Pseudoachondroplasia:

75 (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
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

ClinVar genetic disease variations for Pseudoachondroplasia:

6
(show top 50) (show all 107)
# Gene Variation Type Significance SNP ID Assembly Location
1 COMP NM_000095.2(COMP): c.1414G> T (p.Asp472Tyr) single nucleotide variant Pathogenic rs137852650 GRCh37 Chromosome 19, 18896850: 18896850
2 COMP NM_000095.2(COMP): c.1414G> T (p.Asp472Tyr) single nucleotide variant Pathogenic rs137852650 GRCh38 Chromosome 19, 18786040: 18786040
3 COMP NM_000095.2(COMP): c.1403G> A (p.Cys468Tyr) single nucleotide variant Pathogenic rs137852651 GRCh37 Chromosome 19, 18896861: 18896861
4 COMP NM_000095.2(COMP): c.1403G> A (p.Cys468Tyr) single nucleotide variant Pathogenic rs137852651 GRCh38 Chromosome 19, 18786051: 18786051
5 COMP COMP, 3-BP DEL, 459TCA deletion Pathogenic
6 COMP COMP, 3-BP DEL, (GAC)4 deletion Pathogenic
7 COMP NM_000095.2(COMP): c.982T> C (p.Cys328Arg) single nucleotide variant Pathogenic rs137852653 GRCh37 Chromosome 19, 18898453: 18898453
8 COMP NM_000095.2(COMP): c.982T> C (p.Cys328Arg) single nucleotide variant Pathogenic rs137852653 GRCh38 Chromosome 19, 18787644: 18787644
9 COMP NM_000095.2(COMP): c.1418A> G (p.Asp473Gly) single nucleotide variant Pathogenic rs28936669 GRCh37 Chromosome 19, 18896846: 18896846
10 COMP NM_000095.2(COMP): c.1418A> G (p.Asp473Gly) single nucleotide variant Pathogenic rs28936669 GRCh38 Chromosome 19, 18786036: 18786036
11 COMP NM_000095.2(COMP): c.1405_1407GAC[7] (p.Asp473_Asn474insAspAsp) NT expansion Pathogenic rs312262897 GRCh37 Chromosome 19, 18896845: 18896847
12 COMP NM_000095.2(COMP): c.1405_1407GAC[7] (p.Asp473_Asn474insAspAsp) NT expansion Pathogenic rs312262897 GRCh38 Chromosome 19, 18786035: 18786037
13 COMP NM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp) duplication Pathogenic rs312262898 GRCh37 Chromosome 19, 18896845: 18896847
14 COMP NM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp) duplication Pathogenic rs312262898 GRCh38 Chromosome 19, 18786035: 18786037
15 COMP NM_000095.2(COMP): c.2156G> A (p.Gly719Asp) single nucleotide variant Pathogenic rs137852655 GRCh37 Chromosome 19, 18893935: 18893935
16 COMP NM_000095.2(COMP): c.2156G> A (p.Gly719Asp) single nucleotide variant Pathogenic rs137852655 GRCh38 Chromosome 19, 18783125: 18783125
17 COMP NM_000095.2(COMP): c.1042T> C (p.Cys348Arg) single nucleotide variant Pathogenic rs137852656 GRCh37 Chromosome 19, 18898393: 18898393
18 COMP NM_000095.2(COMP): c.1042T> C (p.Cys348Arg) single nucleotide variant Pathogenic rs137852656 GRCh38 Chromosome 19, 18787584: 18787584
19 COMP COMP, 533-BP DEL, EX9 deletion Pathogenic
20 COMP COMP, 3-BP DEL, (GAC)2 deletion Pathogenic
21 COMP NM_000095.2(COMP): c.1417_1419delGAC (p.Asp473del) deletion Pathogenic rs312262897 GRCh37 Chromosome 19, 18896845: 18896847
22 COMP NM_000095.2(COMP): c.1417_1419delGAC (p.Asp473del) deletion Pathogenic rs312262897 GRCh38 Chromosome 19, 18786035: 18786037
23 COMP NM_000095.2: c.1679A> G single nucleotide variant Pathogenic
24 COMP NM_000095.2(COMP): c.1747G> A (p.Glu583Lys) single nucleotide variant Pathogenic rs312262899 GRCh37 Chromosome 19, 18895873: 18895873
25 COMP NM_000095.2(COMP): c.1747G> A (p.Glu583Lys) single nucleotide variant Pathogenic rs312262899 GRCh38 Chromosome 19, 18785063: 18785063
26 COMP NM_000095.2(COMP): c.1754C> A (p.Thr585Lys) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
27 COMP NM_000095.2(COMP): c.1754C> A (p.Thr585Lys) single nucleotide variant Pathogenic rs312262900 GRCh38 Chromosome 19, 18785056: 18785056
28 COMP NM_000095.2(COMP): c.1754C> G (p.Thr585Arg) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
29 COMP NM_000095.2(COMP): c.1754C> G (p.Thr585Arg) single nucleotide variant Pathogenic rs312262900 GRCh38 Chromosome 19, 18785056: 18785056
30 COMP NM_000095.2(COMP): c.1754C> T (p.Thr585Met) single nucleotide variant Pathogenic rs312262900 GRCh37 Chromosome 19, 18895866: 18895866
31 COMP NM_000095.2(COMP): c.1754C> T (p.Thr585Met) single nucleotide variant Pathogenic rs312262900 GRCh38 Chromosome 19, 18785056: 18785056
32 COMP NM_000095.2(COMP): c.1760A> G (p.His587Arg) single nucleotide variant Likely pathogenic rs312262901 GRCh37 Chromosome 19, 18895860: 18895860
33 COMP NM_000095.2(COMP): c.1760A> G (p.His587Arg) single nucleotide variant Likely pathogenic rs312262901 GRCh38 Chromosome 19, 18785050: 18785050
34 COMP NM_000095.2(COMP): c.2155G> A (p.Gly719Ser) single nucleotide variant Pathogenic rs312262904 GRCh37 Chromosome 19, 18893936: 18893936
35 COMP NM_000095.2(COMP): c.2155G> A (p.Gly719Ser) single nucleotide variant Pathogenic rs312262904 GRCh38 Chromosome 19, 18783126: 18783126
36 COMP NM_000095.2(COMP): c.511G> A (p.Ala171Thr) single nucleotide variant Benign/Likely benign rs115338183 GRCh37 Chromosome 19, 18899986: 18899986
37 COMP NM_000095.2(COMP): c.511G> A (p.Ala171Thr) single nucleotide variant Benign/Likely benign rs115338183 GRCh38 Chromosome 19, 18789177: 18789177
38 COMP NM_000095.2(COMP): c.*1G> C single nucleotide variant Likely benign rs77185131 GRCh38 Chromosome 19, 18782914: 18782914
39 COMP NM_000095.2(COMP): c.*1G> C single nucleotide variant Likely benign rs77185131 GRCh37 Chromosome 19, 18893724: 18893724
40 COMP NM_000095.2(COMP): c.2267A> G (p.Gln756Arg) single nucleotide variant Benign/Likely benign rs61752496 GRCh38 Chromosome 19, 18782922: 18782922
41 COMP NM_000095.2(COMP): c.2267A> G (p.Gln756Arg) single nucleotide variant Benign/Likely benign rs61752496 GRCh37 Chromosome 19, 18893732: 18893732
42 COMP NM_000095.2(COMP): c.1755G> A (p.Thr585=) single nucleotide variant Likely benign rs34467947 GRCh37 Chromosome 19, 18895865: 18895865
43 COMP NM_000095.2(COMP): c.1755G> A (p.Thr585=) single nucleotide variant Likely benign rs34467947 GRCh38 Chromosome 19, 18785055: 18785055
44 COMP NM_000095.2(COMP): c.762+12C> A single nucleotide variant Likely benign rs199733531 GRCh38 Chromosome 19, 18788580: 18788580
45 COMP NM_000095.2(COMP): c.762+12C> A single nucleotide variant Likely benign rs199733531 GRCh37 Chromosome 19, 18899389: 18899389
46 COMP NM_000095.2(COMP): c.218-14C> T single nucleotide variant Benign/Likely benign rs150008764 GRCh38 Chromosome 19, 18790128: 18790128
47 COMP NM_000095.2(COMP): c.218-14C> T single nucleotide variant Benign/Likely benign rs150008764 GRCh37 Chromosome 19, 18900937: 18900937
48 COMP NM_000095.2(COMP): c.*15A> G single nucleotide variant Likely benign rs201937857 GRCh38 Chromosome 19, 18782900: 18782900
49 COMP NM_000095.2(COMP): c.*15A> G single nucleotide variant Likely benign rs201937857 GRCh37 Chromosome 19, 18893710: 18893710
50 COMP NM_000095.2(COMP): c.1993C> A (p.Arg665=) single nucleotide variant Uncertain significance rs370202476 GRCh37 Chromosome 19, 18895095: 18895095

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 ACAN COL9A1 COL9A2 COL9A3
2
Show member pathways
12.56 COL9A1 COL9A2 COL9A3 COMP
3
Show member pathways
12.44 COL9A1 COL9A2 COL9A3 COMP
4
Show member pathways
12.41 COL9A1 COL9A2 COL9A3
5
Show member pathways
12.15 ACAN COL9A1 COL9A2 COL9A3 COMP FMOD
6
Show member pathways
11.63 COL9A1 COL9A2 COL9A3 COMP
7
Show member pathways
11.44 ACAN FMOD
8 11.07 COL9A1 COL9A2 COL9A3
9 10.99 ACAN COMP FMOD
10 10.98 COL9A1 COL9A3
11 10.92 ACAN COL9A1 COL9A2 COL9A3 COMP FMOD
12
Show member pathways
10.73 ACAN FMOD

GO Terms for Pseudoachondroplasia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.5 ACAN COMP FMOD
2 extracellular region GO:0005576 9.5 ACAN COL9A1 COL9A2 COL9A3 COMP FMOD
3 endoplasmic reticulum lumen GO:0005788 9.46 COL9A1 COL9A2 COL9A3 MATN3
4 collagen trimer GO:0005581 9.43 COL9A1 COL9A2 COL9A3
5 Golgi lumen GO:0005796 9.4 ACAN FMOD
6 lysosomal lumen GO:0043202 9.37 ACAN FMOD
7 collagen type IX trimer GO:0005594 8.8 COL9A1 COL9A2 COL9A3

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

# Name GO ID Score Top Affiliating Genes
1 keratan sulfate biosynthetic process GO:0018146 9.26 ACAN FMOD
2 skeletal system development GO:0001501 9.26 ACAN COL9A2 COMP MATN3
3 keratan sulfate catabolic process GO:0042340 9.16 ACAN FMOD
4 extracellular matrix organization GO:0030198 9.1 ACAN COL9A1 COL9A2 COL9A3 COMP MATN3

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 ACAN COMP MATN3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL9A1 COL9A2 COL9A3

Sources for Pseudoachondroplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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