MCID: ACH011
MIFTS: 53

Achondrogenesis

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

Aliases & Classifications for Achondrogenesis

MalaCards integrated aliases for Achondrogenesis:

Name: Achondrogenesis 12 73 20 43 58 29 6 15 39 32
Achondrogenesis Syndrome 43

Characteristics:

Orphanet epidemiological data:

58
achondrogenesis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Achondrogenesis

MedlinePlus Genetics : 43 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 TRIP11 (Thyroid Hormone Receptor Interactor 11), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include bone and heart, and related phenotypes are macrocephaly and frontal bossing

Disease Ontology : 12 An osteochondrodysplasia that has material basis in deficient endochondral ossification which results in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.

GARD : 20 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 mutations in the TRIP11 gene. Type 1B is caused by mutations in the SLC26A2 gene. Type 2 achondrogenesis is caused by new ( de novo ) mutations in the COL2A1 gene. Because of the severity of this condition, most infants with achondrogenesis die before or shortly after birth.

Wikipedia : 73 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 100)
# Related Disease Score Top Affiliating Genes
1 achondrogenesis, type ia 33.2 TRIP11 SLC26A2 GOLGB1 COL2A1
2 achondrogenesis, type ib 32.9 SLC26A2 SLC13A1 MATN3 COL9A3 COL9A2 COL9A1
3 achondrogenesis, type ii 32.6 SLC26A2 MATN3 COMP COL9A1 COL2A1 COL11A1
4 hypochondrogenesis 31.8 SLC26A2 MATN3 COL9A2 COL9A1 COL2A1 ACAN
5 spondyloepiphyseal dysplasia congenita 31.5 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
6 spondyloepiphyseal dysplasia with congenital joint dislocations 31.3 SLC26A2 COMP COL9A3 COL9A2 COL9A1 COL2A1
7 achondroplasia 30.5 IFT20 COMP COL2A1 ACAN
8 diastrophic dysplasia 30.3 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
9 schneckenbecken dysplasia 30.2 TRIP11 SLC35D1 SLC26A2 COL11A1
10 spondyloepimetaphyseal dysplasia 30.2 MATN3 COL2A1 ACAN
11 epiphyseal dysplasia, multiple, 4 30.1 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
12 osteochondrodysplasia 30.1 TRIP11 SLC35D1 SLC26A2 MATN3 COMP COL9A3
13 kniest dysplasia 29.9 SLC35D1 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
14 stickler syndrome 29.9 MATN3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
15 cleft palate, isolated 29.5 COL9A2 COL9A1 COL2A1 COL11A1
16 pyknoachondrogenesis 11.2
17 chondrodysplasia, grebe type 11.2
18 boomerang dysplasia 11.0
19 atelosteogenesis, type i 10.9
20 dwarfism 10.4
21 back pain 10.4 COL9A3 COL9A2
22 kohler's disease 10.4 COL2A1 COL11A1
23 scheuermann disease 10.4 COL9A3 COL2A1
24 chondromalacia 10.4 COMP ACAN
25 spondylolysis 10.4 SLC26A2 ACAN
26 coxa vara 10.4 COL2A1 COL10A1
27 spondylocarpotarsal synostosis syndrome 10.4 TRIP11 SLC35D1 SLC26A2
28 legg-calve-perthes disease 10.4 SLC26A2 MATN3 COL2A1
29 progressive pseudorheumatoid dysplasia 10.3 COL2A1 COL10A1
30 retinal lattice degeneration 10.3 COL9A3 COL2A1
31 stickler syndrome, type i 10.3 COL9A2 COL2A1 COL11A1
32 vitreoretinal degeneration 10.3 COL9A2 COL2A1 COL11A1
33 macroglossia 10.3 COL9A1 COL2A1 COL11A1
34 platyspondylic lethal skeletal dysplasia, torrance type 10.3 COMP COL2A1 COL10A1
35 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.3 COL9A1 COL2A1 COL11A1
36 patella, chondromalacia of 10.3 COMP COL2A1 ACAN
37 metaphyseal dysplasia 10.3 MATN3 COL2A1 COL10A1
38 spondyloepimetaphyseal dysplasia, strudwick type 10.3 COL2A1 COL10A1
39 dyggve-melchior-clausen disease 10.3 TRIP11 GORASP1 GOLGA2
40 intervertebral disc disease 10.3 COL9A3 COL9A2 COL11A1
41 bone deterioration disease 10.3 COL9A3 COL9A2 COL2A1 ACAN
42 bone structure disease 10.3 COL9A3 COL9A2 COL2A1 ACAN
43 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.3 COL9A2 COL9A1 COL2A1 COL11A1
44 retinal perforation 10.3 COL2A1 COL11A1
45 autosomal recessive stickler syndrome 10.3 COL9A3 COL9A2 COL9A1 COL11A1
46 spondylolisthesis 10.2 COL9A3 ACAN
47 vohwinkel syndrome 10.2 GORASP1 GOLGB1 GOLGA2
48 synovitis 10.2 COMP COL2A1 ACAN
49 cartilage disease 10.2 COMP COL2A1 COL10A1 ACAN
50 arthropathy 10.2 COMP COL2A1 ACAN

Graphical network of the top 20 diseases related to Achondrogenesis:



Diseases related to Achondrogenesis

Symptoms & Phenotypes for Achondrogenesis

Human phenotypes related to Achondrogenesis:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
5 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
6 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
7 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
8 hydrops fetalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001789
9 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
10 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
11 thickened nuchal skin fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0000474
12 abnormality of bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004348
13 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
14 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
15 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
16 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
17 abnormal enchondral ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0003336
18 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
19 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
20 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
21 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
22 cystic hygroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000476
23 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
24 malformation of the heart and great vessels 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Achondrogenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 BLOC1S1 COL10A1 COL2A1 COL9A1 COMP GOLGA2
2 growth/size/body region MP:0005378 9.97 COL10A1 COL11A1 COL2A1 COL9A3 COMP GOLGA2
3 craniofacial MP:0005382 9.8 COL10A1 COL11A1 COL2A1 GOLGB1 SLC26A2 SLC35D1
4 limbs/digits/tail MP:0005371 9.7 COL10A1 COL11A1 COL2A1 COL9A1 COL9A2 COMP
5 skeleton MP:0005390 9.4 COL10A1 COL11A1 COL2A1 COL9A1 COL9A2 COMP

Drugs & Therapeutics for Achondrogenesis

Search Clinical Trials , NIH Clinical Center for Achondrogenesis

Genetic Tests for Achondrogenesis

Genetic tests related to Achondrogenesis:

# Genetic test Affiliating Genes
1 Achondrogenesis 29

Anatomical Context for Achondrogenesis

MalaCards organs/tissues related to Achondrogenesis:

40
Bone, Heart

Publications for Achondrogenesis

Articles related to Achondrogenesis:

(show top 50) (show all 255)
# Title Authors PMID Year
1
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. 6 61 20
29872333 2018
2
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. 6 61
30728324 2019
3
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. 6 61
23840040 2013
4
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 61 6
21155763 2011
5
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 6 61
21077202 2010
6
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. 61 6
20089971 2010
7
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. 61 6
17994563 2007
8
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 61 6
16642506 2006
9
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 6 61
15294877 2004
10
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. 61 6
15316973 2004
11
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. 61 6
15054848 2004
12
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 6 61
12966518 2003
13
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 61 6
11448940 2001
14
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 6 61
11241838 2001
15
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 6 61
10465113 1999
16
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 61 6
9637425 1998
17
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. 6 61
9342225 1997
18
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. 61 6
8931695 1996
19
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 6 61
8571951 1996
20
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 61 6
8528239 1996
21
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. 6 61
7757081 1995
22
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. 6 61
7829510 1995
23
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. 6
27065010 2016
24
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish. 6
26375458 2015
25
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. 6
21922596 2012
26
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test. 6
22052783 2011
27
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 6
21077204 2010
28
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. 6
20592910 2010
29
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. 61 20
20583175 2010
30
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. 6
20525296 2010
31
Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 6
20219950 2010
32
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 6
18925670 2008
33
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 6
12525546 2003
34
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 6
11565064 2001
35
Sulphate transporter gene mutations in apparently isolated club foot. 6
11303514 2001
36
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 6
10482955 1999
37
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. 6
7923357 1994
38
A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis. 61
33316082 2021
39
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants. 61
33746040 2021
40
Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computerized tomography. 61
33070083 2021
41
Radiologic Features of Type II and Type XI Collagenopathies. 61
33186059 2021
42
Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1. 61
32896647 2020
43
Control of skeletal morphogenesis by the Hippo-YAP/TAZ pathway. 61
32994166 2020
44
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. 61
31903676 2020
45
Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. 61
31880411 2020
46
Fetal magnetic resonance imaging of skeletal dysplasias. 61
31776601 2020
47
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. 61
31755234 2020
48
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. 61
30423444 2019
49
Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the COL2A1 Gene. 61
31523626 2019
50
Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias. 61
30685387 2019

Variations for Achondrogenesis

ClinVar genetic disease variations for Achondrogenesis:

6 (show top 50) (show all 535)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRIP11 NP_004230.2(TRIP11):p.Trp1224Ter protein only Pathogenic 5509 GRCh37:
GRCh38:
2 TRIP11 NM_004239.4(TRIP11):c.202-2A>G SNV Pathogenic 5510 rs863223281 GRCh37: 14:92491766-92491766
GRCh38: 14:92025422-92025422
3 TRIP11 NM_004239.4(TRIP11):c.3477del (p.Gln1160fs) Deletion Pathogenic 847890 GRCh37: 14:92470843-92470843
GRCh38: 14:92004499-92004499
4 TRIP11 NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter) SNV Pathogenic 583332 rs1053206465 GRCh37: 14:92471763-92471763
GRCh38: 14:92005419-92005419
5 TRIP11 NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter) SNV Pathogenic 692173 rs1045076800 GRCh37: 14:92470193-92470193
GRCh38: 14:92003849-92003849
6 SLC26A2 NM_000112.4(SLC26A2):c.299del (p.Pro100fs) Deletion Pathogenic 816912 rs1581230727 GRCh37: 5:149357512-149357512
GRCh38: 5:149977949-149977949
7 TRIP11 NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs) Deletion Pathogenic 579327 rs1566859264 GRCh37: 14:92470967-92470968
GRCh38: 14:92004623-92004624
8 TRIP11 NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter) SNV Pathogenic 572495 rs34761938 GRCh37: 14:92477364-92477364
GRCh38: 14:92011020-92011020
9 TRIP11 NM_004239.4(TRIP11):c.615_616CT[1] (p.Asn205_Ser206insTer) Microsatellite Pathogenic 581029 rs1566867763 GRCh37: 14:92484065-92484066
GRCh38: 14:92017721-92017722
10 TRIP11 NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter) SNV Pathogenic 692166 rs1595387492 GRCh37: 14:92470842-92470842
GRCh38: 14:92004498-92004498
11 TRIP11 NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter) SNV Pathogenic 692167 rs776935608 GRCh37: 14:92470649-92470649
GRCh38: 14:92004305-92004305
12 TRIP11 NM_004239.4(TRIP11):c.2300_2303TCAA[1] (p.Asn768fs) Microsatellite Pathogenic 619115 rs1294029121 GRCh37: 14:92472013-92472016
GRCh38: 14:92005669-92005672
13 TRIP11 NM_004239.4(TRIP11):c.986_987GA[1] (p.Asp330fs) Microsatellite Pathogenic 648142 rs750602133 GRCh37: 14:92480756-92480757
GRCh38: 14:92014412-92014413
14 TRIP11 NM_004239.4(TRIP11):c.81dup (p.Gly28fs) Duplication Pathogenic 968837 GRCh37: 14:92505948-92505949
GRCh38: 14:92039604-92039605
15 TRIP11 NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter) SNV Pathogenic 1028711 GRCh37: 14:92471709-92471709
GRCh38: 14:92005365-92005365
16 TRIP11 NM_004239.4(TRIP11):c.389C>A (p.Ser130Ter) SNV Pathogenic 1029803 GRCh37: 14:92488099-92488099
GRCh38: 14:92021755-92021755
17 TRIP11 NM_004239.4(TRIP11):c.1661del (p.Thr554fs) Deletion Pathogenic 1031396 GRCh37: 14:92472659-92472659
GRCh38: 14:92006315-92006315
18 COL2A1 NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser) SNV Pathogenic 17371 rs121912878 GRCh37: 12:48372172-48372172
GRCh38: 12:47978389-47978389
19 COL2A1 NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg) SNV Pathogenic 17372 rs121912879 GRCh37: 12:48373800-48373800
GRCh38: 12:47980017-47980017
20 COL2A1 NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp) SNV Pathogenic 17388 rs121912888 GRCh37: 12:48379729-48379729
GRCh38: 12:47985946-47985946
21 COL2A1 NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val) SNV Pathogenic 17403 rs121912899 GRCh37: 12:48379554-48379554
GRCh38: 12:47985771-47985771
22 SLC26A2 NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp) SNV Pathogenic 4093 rs104893920 GRCh37: 5:149360429-149360429
GRCh38: 5:149980866-149980866
23 SLC26A2 NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) SNV Pathogenic 4094 rs104893916 GRCh37: 5:149361189-149361189
GRCh38: 5:149981626-149981626
24 SLC26A2 NM_000112.3(SLC26A2):c.699+2T>C SNV Pathogenic 371684 rs1057517461 GRCh37: 5:149357916-149357916
GRCh38: 5:149978353-149978353
25 COL2A1 NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu) SNV Pathogenic 488485 rs1555166729 GRCh37: 12:48377482-48377482
GRCh38: 12:47983699-47983699
26 SLC26A2 NM_000112.3(SLC26A2):c.697C>T (p.Gln233Ter) SNV Pathogenic 655153 rs1429562386 GRCh37: 5:149357912-149357912
GRCh38: 5:149978349-149978349
27 SLC26A2 NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) Duplication Pathogenic 656557 rs769859976 GRCh37: 5:149357646-149357647
GRCh38: 5:149978083-149978084
28 SLC26A2 NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) SNV Pathogenic 4091 rs104893918 GRCh37: 5:149361300-149361300
GRCh38: 5:149981737-149981737
29 SLC26A2 NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter) SNV Pathogenic 835924 GRCh37: 5:149360499-149360499
GRCh38: 5:149980936-149980936
30 COL2A1 NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val) SNV Pathogenic 374042 rs765795867 GRCh37: 12:48371881-48371881
GRCh38: 12:47978098-47978098
31 SLC26A2 NM_000112.4(SLC26A2):c.1432del (p.Leu478fs) Deletion Pathogenic 856738 GRCh37: 5:149360586-149360586
GRCh38: 5:149981023-149981023
32 COL2A1 NM_001844.5(COL2A1):c.2355+1G>A SNV Pathogenic 932069 GRCh37: 12:48375889-48375889
GRCh38: 12:47982106-47982106
33 SLC26A2 NM_000112.4(SLC26A2):c.819del (p.Leu275fs) Deletion Pathogenic 935588 GRCh37: 5:149359974-149359974
GRCh38: 5:149980411-149980411
34 SLC26A2 NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) SNV Pathogenic 942484 GRCh37: 5:149360933-149360933
GRCh38: 5:149981370-149981370
35 SLC26A2 NM_000112.3(SLC26A2):c.438del (p.Phe146fs) Deletion Pathogenic 557601 rs769859976 GRCh37: 5:149357647-149357647
GRCh38: 5:149978084-149978084
36 SLC26A2 NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) SNV Pathogenic 371786 rs1057517532 GRCh37: 5:149360216-149360216
GRCh38: 5:149980653-149980653
37 SLC26A2 NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) Deletion Pathogenic 960730 GRCh37: 5:149360575-149360575
GRCh38: 5:149981012-149981012
38 SLC26A2 NM_000112.4(SLC26A2):c.138dup (p.Gln47fs) Duplication Pathogenic 964035 GRCh37: 5:149357352-149357353
GRCh38: 5:149977789-149977790
39 SLC26A2 NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs) Indel Pathogenic 967713 GRCh37: 5:149360781-149360806
GRCh38: 5:149981218-149981243
40 SLC26A2 NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs) Deletion Pathogenic 971526 GRCh37: 5:149357226-149357230
GRCh38: 5:149977663-149977667
41 SLC26A2 NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) Deletion Pathogenic 56016 rs386833497 GRCh37: 5:149360806-149360806
GRCh38: 5:149981243-149981243
42 TRIP11 NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) SNV Pathogenic 5508 rs267607138 GRCh37: 14:92482073-92482073
GRCh38: 14:92015729-92015729
43 SLC26A2 NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) Deletion Pathogenic 4087 rs386833498 GRCh37: 5:149360879-149360879
GRCh38: 5:149981316-149981316
44 SLC26A2 NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) Microsatellite Pathogenic 65558 rs121908077 GRCh37: 5:149360166-149360168
GRCh38: 5:149980603-149980605
45 TRIP11 NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs) Deletion Pathogenic 619113 rs1566860640 GRCh37: 14:92472191-92472192
GRCh38: 14:92005847-92005848
46 SLC26A2 NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter) SNV Pathogenic 495551 rs766836061 GRCh37: 5:149360863-149360863
GRCh38: 5:149981300-149981300
47 SLC26A2 NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) Deletion Pathogenic 4087 rs386833498 GRCh37: 5:149360879-149360879
GRCh38: 5:149981316-149981316
48 SLC26A2 NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) Microsatellite Pathogenic 371777 rs763198695 GRCh37: 5:149357698-149357699
GRCh38: 5:149978135-149978136
49 SLC26A2 NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) SNV Pathogenic 4092 rs104893919 GRCh37: 5:149357747-149357747
GRCh38: 5:149978184-149978184
50 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1 COL10A1
2
Show member pathways
12.76 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1 COL10A1
3
Show member pathways
12.74 COMP COL9A3 COL9A2 COL9A1 COL2A1
4
Show member pathways
12.7 COMP COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
5
Show member pathways
12.58 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1 COL10A1
6
Show member pathways
12.26 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
7
Show member pathways
11.75 COMP COL9A3 COL9A2 COL9A1 COL2A1
8 11.47 COL2A1 COL10A1 ACAN
9 11.18 COL9A3 COL9A2 COL9A1
10 11.14 COMP COL2A1 ACAN
11 10.86 MATN3 COMP COL9A3 COL9A2 COL9A1 ACAN
12 10.7 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1 COL10A1

GO Terms for Achondrogenesis

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.11 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
2 extracellular space GO:0005615 10.1 COMP COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
3 Golgi apparatus GO:0005794 10.02 ZFPL1 TRIP11 SLC35D1 IFT20 GORASP1 GOLGB1
4 Golgi membrane GO:0000139 9.91 TRIP11 IFT20 GORASP1 GOLGB1 GOLGA2
5 endoplasmic reticulum lumen GO:0005788 9.8 MATN3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1
6 basement membrane GO:0005604 9.71 COL9A3 COL9A1 COL2A1 ACAN
7 cis-Golgi network GO:0005801 9.67 TRIP11 IFT20 GOLGB1 GOLGA2
8 collagen trimer GO:0005581 9.63 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1 COL10A1
9 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.61 TRIP11 GORASP1 GOLGA2
10 collagen-containing extracellular matrix GO:0062023 9.61 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
11 collagen type IX trimer GO:0005594 9.5 COL9A3 COL9A2 COL9A1
12 extracellular matrix GO:0031012 9.28 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.78 TRIP11 GORASP1 GOLGB1 GOLGA2
2 Golgi organization GO:0007030 9.73 TRIP11 GORASP1 GOLGB1 GOLGA2
3 ossification GO:0001503 9.71 SLC26A2 COMP COL2A1 COL11A1
4 inner ear receptor cell stereocilium organization GO:0060122 9.56 TRIP11 IFT20
5 collagen fibril organization GO:0030199 9.56 COMP COL2A1 COL11A1 ACAN
6 sulfate transmembrane transport GO:1902358 9.55 SLC26A2 SLC13A1
7 cartilage development GO:0051216 9.55 TRIP11 MATN3 COMP COL2A1 COL11A1
8 sulfate transport GO:0008272 9.54 SLC26A2 SLC13A1
9 cartilage condensation GO:0001502 9.54 COL2A1 COL11A1 ACAN
10 Golgi ribbon formation GO:0090161 9.52 TRIP11 GOLGA2
11 positive regulation of ubiquitin protein ligase activity GO:1904668 9.51 GORASP1 GOLGA2
12 chondrocyte development GO:0002063 9.5 COMP COL11A1 ACAN
13 proteoglycan metabolic process GO:0006029 9.49 COL2A1 COL11A1
14 tendon development GO:0035989 9.46 COMP COL11A1
15 skeletal system development GO:0001501 9.43 MATN3 COMP COL9A2 COL2A1 COL10A1 ACAN
16 extracellular matrix organization GO:0030198 9.28 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1

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 9.43 COL9A3 COL9A2 COL9A1 COL2A1 COL11A1 COL10A1
2 extracellular matrix structural constituent GO:0005201 9.28 MATN3 COMP COL9A3 COL9A2 COL9A1 COL2A1
3 proteoglycan binding GO:0043394 9.26 COMP COL2A1
4 secondary active sulfate transmembrane transporter activity GO:0008271 9.16 SLC26A2 SLC13A1

Sources for Achondrogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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