MCID: ACH011
MIFTS: 50

Achondrogenesis

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Achondrogenesis

MalaCards integrated aliases for Achondrogenesis:

Name: Achondrogenesis 11 19 42 58 75 28 5 43 14 38 31 33
Achondrogenesis Syndrome 42

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

1-9/100000 (France) 58

Age Of Onset:

Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080043
MeSH 43 C579878
ICD10 31 Q77.0
ICD10 via Orphanet 32 Q77.0
UMLS via Orphanet 72 C0001079
Orphanet 58 ORPHA932
ICD11 33 103965243

Summaries for Achondrogenesis

MedlinePlus Genetics: 42 Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. However, some infants have lived for a short time with intensive medical support.Researchers have described at least three forms of achondrogenesis, designated as type 1A, type 1B, and type 2. The types are distinguished by their signs and symptoms, inheritance pattern, and genetic cause. However, types 1A and 1B are often hard to tell apart without genetic testing.Achondrogenesis type 1A, which is also called the Houston-Harris type, is the least well understood of the three forms. Affected infants have extremely short limbs, a narrow chest, short ribs that fracture easily, and a lack of normal bone formation (ossification) in the skull, spine, and pelvis.Achondrogenesis type 1B, also known as the Parenti-Fraccaro type, is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may turn inward and upward (clubfeet). Affected infants frequently have a soft out-pouching around the belly-button (an umbilical hernia) or near the groin (an inguinal hernia).Infants with achondrogenesis type 2, which is sometimes called the Langer-Saldino type, have short arms and legs, a narrow chest with short ribs, and underdeveloped lungs. This condition is also associated with a lack of ossification in the spine and pelvis. Distinctive facial features include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (a cleft palate). The abdomen is enlarged, and affected infants often have a condition called hydrops fetalis, in which excess fluid builds up in the body before birth.

MalaCards based summary: Achondrogenesis, also known as achondrogenesis syndrome, is related to achondrogenesis, type ia and achondrogenesis, type ib. An important gene associated with Achondrogenesis is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone, skin and heart, and related phenotypes are macrocephaly and frontal bossing

GARD: 19 Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with Achondrogenesis usually have a small body, extremely short arms and legs, other skeletal abnormalities, and underdeveloped lungs. There are at least three forms of Achondrogenesis, type 1A, type 1B and type 2. Achondrogenesis is usually diagnosed during pregnancy by ultrasound and genetic testing is used to distinguish between the three types. Type 1A and 1B Achondrogenesis are both inherited in an autosomal recessive pattern. Type 1A is caused by genetic changes in the TRIP11 gene. Type 1B is caused by genetic changes in the SLC26A2 gene. Type 2 Achondrogenesis is caused by new (de novo) genetic changes in the COL2A1 gene. Because of the severity of this condition, most infants with Achondrogenesis die before or shortly after birth.

Orphanet: 58 A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.

Disease Ontology: 11 An osteochondrodysplasia that has material basis in deficient endochondral ossification which results in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.

Wikipedia: 75 Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia... more...

Related Diseases for Achondrogenesis

Diseases in the Achondrogenesis family:

Achondrogenesis, Type Ia Achondrogenesis, Type Ii
Achondrogenesis, Type Ib

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

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 achondrogenesis, type ia 33.1 TRIP11 IFT20
2 achondrogenesis, type ib 32.6 TRIP11 SLC26A2 MATN3 COL9A3 COL9A2 COL9A1
3 achondrogenesis, type ii 31.7 SLC26A2 MATN3 COMP COL9A1 COL2A1 COL11A2
4 epiphyseal dysplasia, multiple, 4 31.4 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
5 spondyloepiphyseal dysplasia with congenital joint dislocations 30.4 SLC35D1 SLC26A2 FGFR3 COMP COL9A3 COL9A2
6 cartilage disease 30.3 COMP COL2A1 COL10A1 ACAN
7 hypochondrogenesis 30.3 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
8 thanatophoric dysplasia, type i 30.2 FGFR3 COMP COL2A1
9 schneckenbecken dysplasia 30.1 TRIP11 SLC35D1 SLC26A2
10 spondyloepimetaphyseal dysplasia 30.1 MATN3 COL2A1 ACAN
11 diastrophic dysplasia 29.8 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
12 hypochondroplasia 29.8 TRIP11 FGFR3 COL2A1 COL10A1 ACAN
13 achondroplasia 29.7 IFT20 FGFR3 COMP COL2A1 ACAN
14 spondyloepiphyseal dysplasia congenita 29.7 TRIP11 SLC26A2 MATN3 FGFR3 COMP COL9A3
15 bone disease 29.3 MATN3 FGFR3 COMP COL2A1 COL10A1 ACAN
16 cleft palate, isolated 29.1 FGFR3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
17 scoliosis 29.1 TRIP11 FGFR3 COMP COL2A1 COL10A1 ACAN
18 stickler syndrome 29.1 MATN3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
19 kniest dysplasia 28.9 SLC35D1 SLC26A2 COMP COL9A3 COL9A2 COL9A1
20 osteochondrodysplasia 28.3 TRIP11 SLC35D1 SLC26A2 MIA2 MATN3 IFT20
21 acromesomelic dysplasia 2a 11.3
22 pyknoachondrogenesis 11.3
23 type ii collagen disorders 10.4
24 spondylometaepiphyseal dysplasia, short limb-hand type 10.3 TRIP11 SLC35D1
25 scheuermann disease 10.3 COL9A3 COL2A1
26 coxa vara 10.3 COL2A1 COL10A1
27 boomerang dysplasia 10.3 TRIP11 SLC35D1
28 spondylocarpotarsal synostosis syndrome 10.2 TRIP11 SLC35D1 COL2A1
29 desbuquois dysplasia 10.2 SLC35D1 SLC26A2
30 spondyloepiphyseal dysplasia, nishimura type 10.2 COL2A1 COL10A1
31 spondylolysis 10.2 SLC26A2 ACAN
32 metatropic dysplasia 10.2 COL2A1 ACAN
33 cutis laxa, autosomal recessive, type iia 10.2 MIA2 GORAB
34 heart, malformation of 10.2 COL2A1 COL11A2
35 macroglossia 10.2 COL9A1 COL2A1 COL11A1
36 hydrops fetalis, nonimmune 10.2
37 atelosteogenesis, type ii 10.2
38 cystic lymphangioma 10.2
39 polyhydramnios 10.2
40 multiple epiphyseal dysplasia, recessive 10.2
41 lethal chondrodysplasia 10.2
42 fibrochondrogenesis 2 10.2 COL11A2 COL11A1
43 metachondromatosis 10.2 COL2A1 COL10A1
44 relapsing polychondritis 10.2 COMP COL2A1
45 spondylolisthesis 10.2 COL9A3 COL9A2 ACAN
46 degenerative disc disease 10.2 COL9A3 COL2A1 ACAN
47 geroderma osteodysplasticum 10.1 TRIP11 MIA2 GORAB
48 spondyloepiphyseal dysplasia tarda, x-linked 10.1 TRIP11 MIA2 GORAB
49 kohler's disease 10.1 COL2A1 COL11A2 COL11A1
50 intervertebral disc disease 10.1 COL9A3 COL9A2 COL11A1

Graphical network of the top 20 diseases related to Achondrogenesis:



Diseases related to Achondrogenesis

Symptoms & Phenotypes for Achondrogenesis

Human phenotypes related to Achondrogenesis:

58 30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000256
2 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
3 short neck 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000470
4 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002652
5 short nose 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003196
6 anteverted nares 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000463
7 short thorax 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010306
8 hydrops fetalis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001789
9 flat face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012368
10 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
11 thickened nuchal skin fold 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000474
12 abnormality of bone mineral density 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004348
13 long philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000343
14 aplasia/hypoplasia of the lungs 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006703
15 narrow chest 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000774
16 micromelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002983
17 abnormal enchondral ossification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003336
18 severe short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003510
19 inguinal hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000023
20 umbilical hernia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001537
21 polyhydramnios 58 30 Frequent (33%) Frequent (79-30%)
HP:0001561
22 cystic hygroma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000476
23 abnormality of cardiovascular system morphology 30 Occasional (7.5%) HP:0030680
24 malformation of the heart and great vessels 58 Occasional (29-5%)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 ACAN COL10A1 COL11A1 COL11A2 COL2A1 COL9A1
2 no effect GR00402-S-2 10.14 ACAN COL11A1 COL11A2 COL2A1 COL9A1 FGFR3

MGI Mouse Phenotypes related to Achondrogenesis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.34 ACAN COL11A2 COL2A1 COL9A1 COL9A2 COL9A3
2 limbs/digits/tail MP:0005371 10.23 ACAN COL10A1 COL11A1 COL2A1 COL9A1 COL9A2
3 growth/size/body region MP:0005378 10.21 ACAN COL10A1 COL11A1 COL11A2 COL2A1 COL9A3
4 hearing/vestibular/ear MP:0005377 10.01 ACAN COL11A1 COL11A2 COL2A1 COL9A1 COL9A2
5 craniofacial MP:0005382 10 ACAN COL10A1 COL11A1 COL11A2 COL2A1 FGFR3
6 cellular MP:0005384 9.93 COL10A1 COL2A1 COL9A1 COMP FGFR3 GOLGB1
7 digestive/alimentary MP:0005381 9.92 ACAN COL11A1 COL2A1 FGFR3 GOLGB1 SLC26A2
8 skeleton MP:0005390 9.8 ACAN COL10A1 COL11A1 COL11A2 COL2A1 COL9A1
9 mortality/aging MP:0010768 9.47 ACAN COL10A1 COL11A1 COL11A2 COL2A1 FGFR3

Drugs & Therapeutics for Achondrogenesis

Search Clinical Trials, NIH Clinical Center for Achondrogenesis

Cochrane evidence based reviews: achondrogenesis

Genetic Tests for Achondrogenesis

Genetic tests related to Achondrogenesis:

# Genetic test Affiliating Genes
1 Achondrogenesis 28

Anatomical Context for Achondrogenesis

Organs/tissues related to Achondrogenesis:

MalaCards : Bone, Skin, Heart

Publications for Achondrogenesis

Articles related to Achondrogenesis:

(show top 50) (show all 250)
# Title Authors PMID Year
1
A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia 62
34111908 2022
2
Novel missense COL2A1 variant in a fetus with achondrogenesis type II. 62
36376277 2022
3
Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias. 62
36007841 2022
4
Disruption of Trip11 in cranial neural crest cells is associated with increased ER and Golgi stress contributing to skull defects in mice. 62
35147267 2022
5
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions. 62
34573377 2021
6
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. 62
34057271 2021
7
Novel deep intronic and frameshift mutations causing a TRIP11-related disorder. 62
34014608 2021
8
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues. 62
34019743 2021
9
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants. 62
33746040 2021
10
A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis. 62
33316082 2021
11
Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computerized tomography. 62
33070083 2021
12
Radiologic Features of Type II and Type XI Collagenopathies. 62
33186059 2021
13
Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia. 62
34149817 2021
14
Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1. 62
32896647 2020
15
Control of skeletal morphogenesis by the Hippo-YAP/TAZ pathway. 62
32994166 2020
16
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. 62
31903676 2020
17
Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. 62
31880411 2020
18
Fetal magnetic resonance imaging of skeletal dysplasias. 62
31776601 2020
19
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. 62
31755234 2020
20
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. 62
30423444 2019
21
Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the COL2A1 Gene. 62
31523626 2019
22
Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias. 62
30685387 2019
23
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. 62
30728324 2019
24
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. 62
30284005 2019
25
Recurrent achondrogenesis type 1A1 is due to allelic variant of the COL10A1 genéCOL10A1? 62
31448791 2019
26
Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases. 62
31392067 2019
27
New subtype of familial achondrogenesis type IA (Houston-Harris). 62
30951048 2019
28
Survival and healthcare utilization of infants diagnosed with lethal congenital malformations. 62
30237475 2018
29
A common pathomechanism in GMAP-210- and LBR-related diseases. 62
30518689 2018
30
Prenatal limb defects: Epidemiologic characteristics and an epidemiologic analysis of risk factors. 62
30024522 2018
31
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. 62
29872333 2018
32
New subtype of familial achondrogenesis type IA (Houston-Harris). 62
29681641 2018
33
The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects. 62
29180569 2018
34
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. 62
26443184 2016
35
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. 62
26275891 2015
36
Stickler syndrome associated with epilepsy: report of three cases. 62
25809783 2015
37
The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway. 62
25717001 2015
38
Sulphate in pregnancy. 62
25746011 2015
39
Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling. 62
25823796 2015
40
Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester. 62
24144387 2014
41
Cross-sectional study of the neural ossification centers of vertebrae C1-S5 in the human fetus. 62
23455365 2013
42
The phenotype range of achondrogenesis 1A. 62
23956106 2013
43
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. 62
23840040 2013
44
Somatic mosaicism and the phenotypic expression of COL2A1 mutations. 62
22496037 2012
45
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 62
21155763 2011
46
Sulfate in fetal development. 62
21419855 2011
47
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 62
21077202 2010
48
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. 62
20583175 2010
49
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. 62
20089971 2010
50
Achondrogenesis type 1A--from mouse to human. 62
20089978 2010

Variations for Achondrogenesis

ClinVar genetic disease variations for Achondrogenesis:

5 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRIP11 NM_004239.4(TRIP11):c.*383del DEL Uncertain Significance
314916 rs547231708 GRCh37: 14:92435634-92435634
GRCh38: 14:91969290-91969290
2 SLC26A2 NM_000112.4(SLC26A2):c.*3690CAG[1] MICROSAT Uncertain Significance
352080 rs886060246 GRCh37: 5:149365066-149365068
GRCh38: 5:149985503-149985505
3 SLC26A2 NM_000112.4(SLC26A2):c.*1221del DEL Uncertain Significance
352049 rs886060233 GRCh37: 5:149362585-149362585
GRCh38: 5:149983022-149983022
4 SLC26A2 NM_000112.4(SLC26A2):c.*4397A>G SNV Uncertain Significance
352085 rs547302746 GRCh37: 5:149365773-149365773
GRCh38: 5:149986210-149986210
5 TRIP11 NM_004239.4(TRIP11):c.*383dup DUP Uncertain Significance
314915 rs547231708 GRCh37: 14:92435633-92435634
GRCh38: 14:91969289-91969290
6 TRIP11 NM_004239.4(TRIP11):c.-58C>T SNV Uncertain Significance
314983 rs886050909 GRCh37: 14:92506087-92506087
GRCh38: 14:92039743-92039743
7 TRIP11 NM_004239.4(TRIP11):c.*1339del DEL Uncertain Significance
314898 rs35251290 GRCh37: 14:92434678-92434678
GRCh38: 14:91968334-91968334
8 SLC26A2 NM_000112.4(SLC26A2):c.*1221dup DUP Uncertain Significance
352048 rs886060233 GRCh37: 5:149362584-149362585
GRCh38: 5:149983021-149983022
9 SLC26A2 NM_000112.4(SLC26A2):c.*4064dup DUP Uncertain Significance
352081 rs886060247 GRCh37: 5:149365439-149365440
GRCh38: 5:149985876-149985877
10 SLC26A2 NM_000112.4(SLC26A2):c.*4469dup DUP Uncertain Significance
352086 rs397883627 GRCh37: 5:149365836-149365837
GRCh38: 5:149986273-149986274
11 SLC26A2 NM_000112.4(SLC26A2):c.*4870dup DUP Likely Benign
352093 rs368872246 GRCh37: 5:149366245-149366246
GRCh38: 5:149986682-149986683
12 TRIP11 NM_004239.4(TRIP11):c.*387del DEL Likely Benign
314913 rs148331500 GRCh37: 14:92435630-92435630
GRCh38: 14:91969286-91969286
13 SLC26A2 NM_000112.4(SLC26A2):c.*1892dup DUP Likely Benign
352054 rs148778566 GRCh37: 5:149363267-149363268
GRCh38: 5:149983704-149983705
14 TRIP11 NM_004239.4(TRIP11):c.*1339dup DUP Likely Benign
314897 rs35251290 GRCh37: 14:92434677-92434678
GRCh38: 14:91968333-91968334
15 SLC26A2 NM_000112.4(SLC26A2):c.*4469del DEL Benign
352088 rs397883627 GRCh37: 5:149365837-149365837
GRCh38: 5:149986274-149986274

Expression for Achondrogenesis

Search GEO for disease gene expression data for Achondrogenesis.

Pathways for Achondrogenesis

Pathways related to Achondrogenesis according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 FGFR3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
2
Show member pathways
13.27 ACAN COL10A1 COL11A1 COL11A2 COL2A1 COL9A1
3
Show member pathways
12.8 FGFR3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
4
Show member pathways
12.73 FGFR3 COMP COL9A3 COL9A2 COL9A1 COL2A1
5 12.7 FGFR3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
6
Show member pathways
12.65 COL10A1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2
7
Show member pathways
12.06 COL2A1 COL11A2 COL11A1 COL10A1
8
Show member pathways
11.97 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
9
Show member pathways
11.9 FGFR3 COL2A1 COL10A1 ACAN
10
Show member pathways
11.8 COL9A3 COL9A2 COL9A1 COL2A1
11
Show member pathways
11.78 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
12 11.75 FGFR3 COL2A1 COL11A2
13
Show member pathways
11.7 COL9A3 COL9A2 COL9A1 COL2A1
14 11.48 COL2A1 COL11A2 COL11A1
15 11.24 COMP COL2A1 ACAN
16 11.15 FGFR3 COL2A1 COL11A2 COL11A1
17 10.71 ACAN COL10A1 COL11A1 COL11A2 COL2A1 COL9A1

GO Terms for Achondrogenesis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.5 MATN3 FGFR3 COMP COL9A3 COL9A2 COL9A1
2 endoplasmic reticulum lumen GO:0005788 10.16 COL10A1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2
3 collagen-containing extracellular matrix GO:0062023 10.16 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
4 cis-Golgi network GO:0005801 10.01 TRIP11 IFT20 GORASP1 GOLGB1
5 basement membrane GO:0005604 9.98 ACAN COL2A1 COL9A1 COL9A3
6 collagen type XI trimer GO:0005592 9.85 COL2A1 COL11A2 COL11A1
7 collagen type IX trimer GO:0005594 9.8 COL9A3 COL9A2 COL9A1
8 collagen trimer GO:0005581 9.65 COL10A1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2
9 extracellular matrix GO:0031012 9.62 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.91 COL11A1 COL2A1 COMP SLC26A2
2 collagen fibril organization GO:0030199 9.91 ACAN COL11A1 COL11A2 COL2A1 COMP
3 chondrocyte differentiation GO:0002062 9.89 FGFR3 COL2A1 COL11A2
4 extracellular matrix organization GO:0030198 9.86 COL10A1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2
5 cartilage development GO:0051216 9.85 TRIP11 MATN3 COMP COL2A1 COL11A2 COL11A1
6 proteoglycan metabolic process GO:0006029 9.83 COL2A1 COL11A1
7 cartilage condensation GO:0001502 9.8 COL2A1 COL11A1 ACAN
8 chondrocyte proliferation GO:0035988 9.8 GOLGB1 FGFR3 COMP
9 chondrocyte development GO:0002063 9.77 COMP COL11A1 ACAN
10 tendon development GO:0035989 9.76 COMP COL11A1
11 endochondral bone growth GO:0003416 9.69 FGFR3 COMP
12 skeletal system morphogenesis GO:0048705 9.65 COL2A1 COL11A2 COL11A1
13 skeletal system development GO:0001501 9.53 MATN3 FGFR3 COMP COL9A2 COL2A1 COL11A2

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.8 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
2 extracellular matrix structural constituent GO:0005201 9.62 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1

Sources for Achondrogenesis

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
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