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 74 52 25 58 29 6 15 39 32
Achondrogenesis Syndrome 25

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

Genetics Home Reference : 25 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 ii. An important gene associated with Achondrogenesis is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include bone, lung and testes, and related phenotypes are macrocephaly and short neck

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.

NIH Rare Diseases : 52 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 : 74 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 99)
# Related Disease Score Top Affiliating Genes
1 achondrogenesis, type ia 35.0 TRIP11 SLC26A2 COL2A1
2 achondrogenesis, type ii 33.0 MATN1 COMP COL2A1 COL11A2 COL11A1 ACAN
3 boomerang dysplasia 32.3 TRIP11 SLC35D1
4 skeletal dysplasias 31.0 MATN3 COMP COL2A1
5 hypochondrogenesis 30.6 TRAPPC2B TRAPPC2 MATN1 COL9A2 COL9A1 COL2A1
6 spondyloepiphyseal dysplasia congenita 30.5 TRAPPC2B TRAPPC2 MATN3 COMP COL9A1 COL2A1
7 achondroplasia 30.3 IFT20 COMP COL2A1 ACAN
8 diastrophic dysplasia 29.8 SLC26A2 MATN3 COMP COL9A3 COL9A2 COL9A1
9 spondyloepiphyseal dysplasia with congenital joint dislocations 29.7 TRAPPC2B TRAPPC2 SLC26A2 COMP COL9A3 COL9A2
10 cleft palate, isolated 29.4 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
11 scoliosis 29.1 MATN1 COMP COL2A1 COL10A1 ACAN
12 schneckenbecken dysplasia 29.0 TRIP11 TRAPPC2B SLC35D1 SLC26A2 COL2A1 COL11A2
13 kniest dysplasia 29.0 SLC35D1 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
14 stickler syndrome 28.8 MATN3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
15 odontochondrodysplasia 28.0 TRIP11 TRAPPC2B TRAPPC2 SLC35D1 SLC26A2 MATN3
16 spondyloepimetaphyseal dysplasia, matrilin-3 related 27.7 TRAPPC2B TRAPPC2 SLC26A2 MATN3 COMP COL9A1
17 multiple epiphyseal dysplasia 27.5 TRAPPC2 SLC26A2 MATN3 COMP COL9A3 COL9A2
18 achondrogenesis, type ib 13.0
19 pyknoachondrogenesis 12.0
20 chondrodysplasia, grebe type 11.4
21 atelosteogenesis, type i 11.2
22 dwarfism 10.6
23 atelosteogenesis, type ii 10.4
24 back pain 10.4 COL9A3 COL9A2
25 polyhydramnios 10.4
26 multiple epiphyseal dysplasia, recessive 10.4
27 scheuermann disease 10.4 COL9A3 COL2A1
28 marshall syndrome 10.4 COL2A1 COL11A1
29 cystic lymphangioma 10.3
30 lethal chondrodysplasia 10.3
31 dyggve-melchior-clausen disease 10.3 TRIP11 TRAPPC2
32 patellofemoral pain syndrome 10.3 TRAPPC2B TRAPPC2
33 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.3 COL9A3 COL9A2 COL9A1
34 arthropathy, progressive pseudorheumatoid, of childhood 10.3 TRAPPC2B TRAPPC2
35 coxa vara 10.3 COL2A1 COL10A1
36 vitreoretinal degeneration 10.2 COL9A2 COL2A1 COL11A1
37 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.2 TRIP11 TRAPPC2
38 spondyloepimetaphyseal dysplasia, strudwick type 10.2 COL2A1 COL10A1
39 brachyolmia 10.2 SLC26A2 COL2A1 ACAN
40 macroglossia 10.2 COL9A1 COL2A1 COL11A1
41 thanatophoric dysplasia, type i 10.2
42 encephalocele 10.2
43 occipital encephalocele 10.2
44 eye degenerative disease 10.2 COL9A2 COL2A1
45 simpson-golabi-behmel syndrome, type 1 10.2 COL2A1 ACAN
46 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.1 COL2A1 COL11A2
47 fibrochondrogenesis 1 10.0 COL11A2 COL11A1
48 autosomal recessive stickler syndrome 10.0 COL9A3 COL9A2 COL9A1 COL11A1
49 polydactyly, postaxial, type a1 10.0
50 hydrops fetalis, nonimmune 10.0

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 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
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 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
8 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
9 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
10 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
11 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
12 hydrops fetalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001789
13 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
14 thickened nuchal skin fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0000474
15 abnormality of bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004348
16 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
17 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
18 abnormal enchondral ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0003336
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.86 COL10A1 COL11A1 COL11A2 COL2A1 GOLGB1 SLC26A2
2 limbs/digits/tail MP:0005371 9.65 COL10A1 COL11A1 COL2A1 COL9A1 COL9A2 COMP
3 hearing/vestibular/ear MP:0005377 9.63 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2 GORASP1
4 skeleton MP:0005390 9.44 COL10A1 COL11A1 COL11A2 COL2A1 COL9A1 COL9A2

Drugs & Therapeutics for Achondrogenesis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754

Search 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, Lung, Testes, Heart, Skin, Eye

Publications for Achondrogenesis

Articles related to Achondrogenesis:

(show top 50) (show all 238)
# Title Authors PMID Year
1
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. 61 52 6
29872333 2018
2
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. 61 6
30728324 2019
3
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. 61 6
20089971 2010
4
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. 61 6
17994563 2007
5
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
6
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. 61 6
15054848 2004
7
Achondrogenesis Type 1B 61 6
20301689 2002
8
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 61 6
9637425 1998
9
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 61 6
8571951 1996
10
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 61 6
8528239 1996
11
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. 61 6
7757081 1995
12
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. 61 6
7829510 1995
13
Type II Collagen Disorders Overview 6
31021589 2019
14
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. 61 52
20583175 2010
15
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 6
18925670 2008
16
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. 6
7923357 1994
17
Fetal magnetic resonance imaging of skeletal dysplasias. 61
31776601 2020
18
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. 61
31755234 2020
19
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A. 61
31903676 2020
20
Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. 61
31880411 2019
21
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. 61
30423444 2019
22
Achondrogenesis Type 2 in a Newborn with a Novel Mutation on the COL2A1 Gene. 61
31523626 2019
23
Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias. 61
30685387 2019
24
Recurrent achondrogenesis type 1A1 is due to allelic variant of the COL10A1 genéCOL10A1? 61
31448791 2019
25
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. 61
30284005 2019
26
New subtype of familial achondrogenesis type IA (Houston-Harris). 61
30951048 2019
27
Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases. 61
31392067 2019
28
Survival and healthcare utilization of infants diagnosed with lethal congenital malformations. 61
30237475 2018
29
A common pathomechanism in GMAP-210- and LBR-related diseases. 61
30518689 2018
30
Prenatal limb defects: Epidemiologic characteristics and an epidemiologic analysis of risk factors. 61
30024522 2018
31
New subtype of familial achondrogenesis type IA (Houston-Harris). 61
29681641 2018
32
The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects. 61
29180569 2018
33
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. 61
26443184 2016
34
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. 61
26275891 2015
35
Stickler syndrome associated with epilepsy: report of three cases. 61
25809783 2015
36
The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway. 61
25717001 2015
37
Sulphate in pregnancy. 61
25746011 2015
38
Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling. 61
25823796 2015
39
Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester. 61
24144387 2014
40
The phenotype range of achondrogenesis 1A. 61
23956106 2013
41
Cross-sectional study of the neural ossification centers of vertebrae C1-S5 in the human fetus. 61
23455365 2013
42
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. 61
23840040 2013
43
Somatic mosaicism and the phenotypic expression of COL2A1 mutations. 61
22496037 2012
44
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 61
21155763 2011
45
Sulfate in fetal development. 61
21419855 2011
46
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 61
21077202 2010
47
Achondrogenesis type 1A--from mouse to human. 61
20089978 2010
48
Prenatal sonographic diagnosis of skeletal dysplasias. 61
19548204 2009
49
Incidence, causes and pregnancy outcomes of hydrops fetalis at Srinagarind Hospital, 1996-2005: a 10-year review. 61
19459517 2009
50
Antenatal diagnosis of achondrogenesis type II. 61
20387359 2009

Variations for Achondrogenesis

ClinVar genetic disease variations for Achondrogenesis:

6 (show top 50) (show all 199) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC26A2 NM_000112.3(SLC26A2):c.987T>C (p.Leu329=)SNV Conflicting interpretations of pathogenicity 196211 rs116302615 5:149360143-149360143 5:149980580-149980580
2 TRIP11 NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)SNV Conflicting interpretations of pathogenicity 197230 rs141553918 14:92488106-92488106 14:92021762-92021762
3 SLC26A2 NM_000112.3(SLC26A2):c.1512G>A (p.Met504Ile)SNV Conflicting interpretations of pathogenicity 282910 rs76668544 5:149360668-149360668 5:149981105-149981105
4 TRIP11 NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His)SNV Conflicting interpretations of pathogenicity 290765 rs41301481 14:92470716-92470716 14:92004372-92004372
5 SLC26A2 NM_000112.3(SLC26A2):c.2145G>A (p.Ala715=)SNV Conflicting interpretations of pathogenicity 352032 rs886060225 5:149361301-149361301 5:149981738-149981738
6 TRIP11 NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile)SNV Conflicting interpretations of pathogenicity 314944 rs117748213 14:92470181-92470181 14:92003837-92003837
7 TRIP11 NM_004239.4(TRIP11):c.1774C>T (p.Leu592=)SNV Conflicting interpretations of pathogenicity 314966 rs199768095 14:92472546-92472546 14:92006202-92006202
8 TRIP11 NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe)SNV Conflicting interpretations of pathogenicity 314951 rs200739251 14:92471220-92471220 14:92004876-92004876
9 TRIP11 NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His)SNV Conflicting interpretations of pathogenicity 314938 rs35007347 14:92465749-92465749 14:91999405-91999405
10 TRIP11 NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=)SNV Conflicting interpretations of pathogenicity 314942 rs144780536 14:92469907-92469907 14:92003563-92003563
11 TRIP11 NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys)SNV Conflicting interpretations of pathogenicity 314943 rs201607866 14:92470161-92470161 14:92003817-92003817
12 TRIP11 NM_004239.4(TRIP11):c.-24G>ASNV Conflicting interpretations of pathogenicity 314982 rs199937850 14:92506053-92506053 14:92039709-92039709
13 TRIP11 NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=)SNV Conflicting interpretations of pathogenicity 314926 rs748645116 14:92436146-92436146 14:91969802-91969802
14 TRIP11 NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=)SNV Conflicting interpretations of pathogenicity 314941 rs372272441 14:92469877-92469877 14:92003533-92003533
15 TRIP11 NM_004239.4(TRIP11):c.107A>T (p.Asp36Val)SNV Conflicting interpretations of pathogenicity 314981 rs186074112 14:92505923-92505923 14:92039579-92039579
16 TRIP11 NM_004239.4(TRIP11):c.-58C>TSNV Uncertain significance 314983 rs886050909 14:92506087-92506087 14:92039743-92039743
17 TRIP11 NM_004239.4(TRIP11):c.-128C>TSNV Uncertain significance 314985 rs886050910 14:92506157-92506157 14:92039813-92039813
18 TRIP11 NM_004239.4(TRIP11):c.-267A>GSNV Uncertain significance 314988 rs886050912 14:92506296-92506296 14:92039952-92039952
19 TRIP11 NM_004239.4(TRIP11):c.1689G>A (p.Lys563=)SNV Uncertain significance 314967 rs749219134 14:92472631-92472631 14:92006287-92006287
20 TRIP11 NM_004239.4(TRIP11):c.1186+14G>ASNV Uncertain significance 314971 rs371492052 14:92480545-92480545 14:92014201-92014201
21 TRIP11 NM_004239.4(TRIP11):c.3784A>G (p.Lys1262Glu)SNV Uncertain significance 314946 rs886050906 14:92470536-92470536 14:92004192-92004192
22 TRIP11 NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=)SNV Uncertain significance 314948 rs769979770 14:92470654-92470654 14:92004310-92004310
23 TRIP11 NM_004239.4(TRIP11):c.2864C>A (p.Thr955Asn)SNV Uncertain significance 314953 rs200045450 14:92471456-92471456 14:92005112-92005112
24 TRIP11 NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly)SNV Uncertain significance 314933 rs536393273 14:92454696-92454696 14:91988352-91988352
25 TRIP11 NM_004239.4(TRIP11):c.4780T>G (p.Ser1594Ala)SNV Uncertain significance 314936 rs886050904 14:92465696-92465696 14:91999352-91999352
26 TRIP11 NM_004239.4(TRIP11):c.*384A>TSNV Uncertain significance 314914 rs886050900 14:92435633-92435633 14:91969289-91969289
27 TRIP11 NM_004239.4(TRIP11):c.*312A>GSNV Uncertain significance 314919 rs565776732 14:92435705-92435705 14:91969361-91969361
28 TRIP11 NM_004239.4(TRIP11):c.*290A>GSNV Uncertain significance 314920 rs189206458 14:92435727-92435727 14:91969383-91969383
29 TRIP11 NM_004239.4(TRIP11):c.*163C>TSNV Uncertain significance 314922 rs142907939 14:92435854-92435854 14:91969510-91969510
30 TRIP11 NM_004239.4(TRIP11):c.*9C>GSNV Uncertain significance 314924 rs373269085 14:92436008-92436008 14:91969664-91969664
31 TRIP11 NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=)SNV Uncertain significance 314925 rs748903681 14:92436128-92436128 14:91969784-91969784
32 TRIP11 NM_004239.4(TRIP11):c.*891A>GSNV Uncertain significance 314905 rs886050896 14:92435126-92435126 14:91968782-91968782
33 TRIP11 NM_004239.4(TRIP11):c.-335G>ASNV Uncertain significance 314992 rs886050914 14:92506364-92506364 14:92040020-92040020
34 TRIP11 NM_004239.4(TRIP11):c.*1294A>GSNV Uncertain significance 314899 rs143185383 14:92434723-92434723 14:91968379-91968379
35 TRIP11 NM_004239.4(TRIP11):c.*544C>TSNV Uncertain significance 314909 rs528182792 14:92435473-92435473 14:91969129-91969129
36 TRIP11 NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro)SNV Uncertain significance 314962 rs745959376 14:92472083-92472083 14:92005739-92005739
37 TRIP11 NM_004239.4(TRIP11):c.183T>C (p.His61=)SNV Uncertain significance 314979 rs138904373 14:92499554-92499554 14:92033210-92033210
38 TRIP11 NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser)SNV Uncertain significance 314970 rs34761938 14:92477364-92477364 14:92011020-92011020
39 TRIP11 NM_004239.4(TRIP11):c.823+4A>TSNV Uncertain significance 314973 rs778772980 14:92482036-92482036 14:92015692-92015692
40 TRIP11 NM_004239.4(TRIP11):c.425C>T (p.Ala142Val)SNV Uncertain significance 314976 rs766014867 14:92488063-92488063 14:92021719-92021719
41 TRIP11 NM_004239.4(TRIP11):c.2667T>C (p.Asp889=)SNV Uncertain significance 314957 rs140106241 14:92471653-92471653 14:92005309-92005309
42 TRIP11 NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn)SNV Uncertain significance 314959 rs374243914 14:92471826-92471826 14:92005482-92005482
43 TRIP11 NM_004239.4(TRIP11):c.4699-4C>GSNV Uncertain significance 314939 rs886050905 14:92465781-92465781 14:91999437-91999437
44 TRIP11 NM_004239.4(TRIP11):c.2710A>G (p.Ile904Val)SNV Uncertain significance 314956 rs886050907 14:92471610-92471610 14:92005266-92005266
45 TRIP11 NM_004239.4(TRIP11):c.-255G>ASNV Uncertain significance 314986 rs886050911 14:92506284-92506284 14:92039940-92039940
46 TRIP11 NM_004239.4(TRIP11):c.-265C>ASNV Uncertain significance 314987 rs532470754 14:92506294-92506294 14:92039950-92039950
47 TRIP11 NM_004239.4(TRIP11):c.-333G>ASNV Uncertain significance 314991 rs559266963 14:92506362-92506362 14:92040018-92040018
48 TRIP11 NM_004239.4(TRIP11):c.-337C>TSNV Uncertain significance 314993 rs886050915 14:92506366-92506366 14:92040022-92040022
49 TRIP11 NM_004239.4(TRIP11):c.*1339deldeletion Uncertain significance 314898 rs35251290 14:92434678-92434678 14:91968334-91968334
50 TRIP11 NM_004239.4(TRIP11):c.*1194A>GSNV Uncertain significance 314900 rs886050894 14:92434823-92434823 14:91968479-91968479

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
13.22 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
2
Show member pathways
12.75 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
3
Show member pathways
12.74 COMP COL9A3 COL9A2 COL9A1 COL2A1
4
Show member pathways
12.72 COMP COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
5
Show member pathways
12.59 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
6
Show member pathways
12.02 MATN3 MATN1 COMP COL9A3 COL9A2 COL9A1
7
Show member pathways
11.96 COMP COL9A3 COL9A2 COL9A1 COL2A1
8 11.48 COL2A1 COL10A1 ACAN
9 11.26 MATN3 MATN1 COMP COL9A3 COL9A2 COL9A1
10 11.2 COL9A3 COL9A2 COL9A1
11 11.17 COMP COL2A1 ACAN
12 10.66 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1

GO Terms for Achondrogenesis

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.14 MATN3 MATN1 COMP COL9A3 COL9A2 COL9A1
2 extracellular space GO:0005615 10.07 MATN3 MATN1 COMP COL9A3 COL9A2 COL9A1
3 Golgi membrane GO:0000139 9.89 TRIP11 TRAPPC2 IFT20 GORASP1 GOLGB1
4 endoplasmic reticulum lumen GO:0005788 9.86 MATN3 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2
5 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.73 TRIP11 TRAPPC2B TRAPPC2 GOLGB1
6 collagen trimer GO:0005581 9.7 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
7 collagen-containing extracellular matrix GO:0062023 9.7 MATN3 MATN1 COMP COL9A3 COL9A2 COL9A1
8 cis-Golgi network GO:0005801 9.65 TRIP11 IFT20 GOLGB1
9 collagen type IX trimer GO:0005594 9.5 COL9A3 COL9A2 COL9A1
10 collagen type XI trimer GO:0005592 9.46 COL11A2 COL11A1
11 extracellular matrix GO:0031012 9.36 MATN3 MATN1 COMP COL9A3 COL9A2 COL9A1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.78 TRAPPC2B TRAPPC2 GORASP1 GOLGB1
2 sensory perception of sound GO:0007605 9.74 COL2A1 COL11A2 COL11A1
3 ossification GO:0001503 9.71 SLC26A2 COMP COL2A1 COL11A1
4 Golgi organization GO:0007030 9.7 TRIP11 GORASP1 GOLGB1
5 collagen fibril organization GO:0030199 9.65 COMP COL2A1 COL11A2 COL11A1 ACAN
6 skeletal system morphogenesis GO:0048705 9.63 COL2A1 COL11A2 COL11A1
7 cartilage development GO:0051216 9.63 TRIP11 MATN3 COMP COL2A1 COL11A2 COL11A1
8 inner ear receptor cell stereocilium organization GO:0060122 9.56 TRIP11 IFT20
9 skeletal system development GO:0001501 9.56 TRAPPC2 MATN3 COMP COL9A2 COL2A1 COL11A2
10 regulation of bone mineralization GO:0030500 9.55 MATN1 COMP
11 tissue homeostasis GO:0001894 9.54 COL2A1 COL11A2
12 chondrocyte development GO:0002063 9.54 COMP COL11A1 ACAN
13 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.51 MATN3 MATN1
14 cartilage condensation GO:0001502 9.5 COL2A1 COL11A1 ACAN
15 proteoglycan metabolic process GO:0006029 9.49 COL2A1 COL11A1
16 tendon development GO:0035989 9.43 COMP COL11A1
17 extracellular matrix organization GO:0030198 9.36 MATN3 MATN1 COMP COL9A3 COL9A2 COL9A1

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 9.5 COL9A3 COL9A2 COL9A1 COL2A1 COL11A2 COL11A1
2 extracellular matrix structural constituent GO:0005201 9.36 MATN3 MATN1 COMP COL9A3 COL9A2 COL9A1
3 proteoglycan binding GO:0043394 9.16 COMP COL2A1

Sources for Achondrogenesis

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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