ACG2
MCID: ACH041
MIFTS: 54

Achondrogenesis, Type Ii (ACG2)

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

Aliases & Classifications for Achondrogenesis, Type Ii

MalaCards integrated aliases for Achondrogenesis, Type Ii:

Name: Achondrogenesis, Type Ii 57 54 39
Achondrogenesis Type Ii 12 73 72 36 29 6 15
Achondrogenesis, Langer-Saldino Type 57 20 58
Achondrogenesis Type 2 73 20 58
Acg2 57 20 72
Achondrogenesis, Type Ii or Hypochondrogenesis 57 13
Chondrogenesis Imperfecta 57 20
Hypochondrogenesis 58 70
Achondrogenesis-Hypochondrogenesis Type Ii 72
Achondrogenesis Langer-Saldino Type 72
Achondrogenesis, Type Ib, Formerly 57
Langer-Saldino Achondrogenesis 20
Achondrogenesis 2 72
Acg-Ii 72

Characteristics:

Orphanet epidemiological data:

58
achondrogenesis type 2
Inheritance: Autosomal dominant; Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;
hypochondrogenesis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
stillborn or death shortly after birth
most cases result from de novo mutations
hypochondrogenesis represents clinical variability within the achondrogenesis-hypochondrogenesis spectrum


HPO:

31
achondrogenesis, type ii:
Onset and clinical course stillbirth
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Achondrogenesis, Type Ii

OMIM® : 57 Achondrogenesis type II is characterized by severe micromelic dwarfism with small chest and prominent abdomen, incomplete ossification of the vertebral bodies, and disorganization of the costochondral junction. This form is an autosomal dominant trait occurring mostly as new mutations. However, somatic and germline mosaicism have been reported (summary by Comstock et al., 2010). (200610) (Updated 20-May-2021)

MalaCards based summary : Achondrogenesis, Type Ii, also known as achondrogenesis type ii, is related to chondrodysplasia, grebe type and spondyloepiphyseal dysplasia congenita. An important gene associated with Achondrogenesis, Type Ii is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include vertebral column, pelvis and bone, and related phenotypes are short long bone and skeletal dysplasia

Disease Ontology : 12 An achondrogenesis that has material basis in mutations in the COL2A1 gene which results in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located in vertebral column or located in pelvis.

KEGG : 36 Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by dominant mutations in the type II collagen gene (COL2A1). ACG2 is the most severe of the phenotypic spectrum of COL2A1 mutations.

UniProtKB/Swiss-Prot : 72 Achondrogenesis 2: An autosomal dominant disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones.

Wikipedia : 73 Achondrogenesis, type 2 results in short arms and legs, a small chest with short ribs, and... more...

Related Diseases for Achondrogenesis, Type Ii

Diseases in the Achondrogenesis family:

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

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

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 chondrodysplasia, grebe type 32.2 GDF5-AS1 GDF5 COL2A1
2 spondyloepiphyseal dysplasia congenita 30.9 MATN3 COMP COL9A1 COL2A1 COL11A2 COL10A1
3 hypochondrogenesis 30.1 SOWAHB SLC26A2 MATN3 MATN1 FMOD FAM189A1
4 achondroplasia 30.0 COMP COL2A1 ACAN
5 spondyloepimetaphyseal dysplasia 29.8 MATN3 MATN1 COL2A1 ACAN
6 achondrogenesis, type ib 29.8 SLC26A2 MATN3 COL9A1
7 kniest dysplasia 29.5 FMOD COL9A1 COL2A1 COL27A1 COL11A2 COL11A1
8 scoliosis 29.4 MATN1 COMP COL2A1 COL27A1 COL10A1 ACAN
9 brittle bone disorder 28.9 COMP COL2A1 COL11A1 COL10A1 CD36 ACAN
10 spondyloepiphyseal dysplasia with congenital joint dislocations 28.8 SLC26A2 COMP COL9A1 COL2A1 COL11A2 COL11A1
11 achondrogenesis 28.6 SLC26A2 MATN3 MATN1 FMOD COMP COL9A1
12 stickler syndrome 28.3 MATN3 FMOD COL9A1 COL2A1 COL27A1 COL11A2
13 osteochondrodysplasia 27.9 SLC26A2 MATN3 MATN1 GDF5 COMP COL9A1
14 symphalangism, proximal, 1b 10.3 GDF5-AS1 GDF5
15 multiple synostoses syndrome 2 10.3 GDF5-AS1 GDF5
16 brachydactyly, type a1, c 10.3 GDF5-AS1 GDF5
17 acromesomelic dysplasia, hunter-thompson type 10.3 GDF5-AS1 GDF5
18 cystic lymphangioma 10.3
19 metatropic dysplasia 10.2 COL2A1 COL11A2
20 acute tympanitis 10.2 MATN3 GDF5
21 interstitial keratitis 10.2 COL9A1 CD36
22 coxa vara 10.2 COL2A1 COL10A1
23 polyhydramnios 10.2
24 dwarfism 10.2
25 progressive pseudorheumatoid dysplasia 10.2 COL2A1 COL10A1
26 stickler syndrome, type i 10.1 COL2A1 COL11A1
27 spondyloepimetaphyseal dysplasia, strudwick type 10.1 COL2A1 COL10A1
28 vitreoretinal degeneration 10.1 COL2A1 COL11A1
29 odontogenic myxoma 10.1 CD36 ACAN
30 discitis 10.1 FMOD ACAN
31 du pan syndrome 10.1 GDF5-AS1 GDF5 COL10A1
32 platyspondylic lethal skeletal dysplasia, torrance type 10.1 COMP COL2A1 COL10A1
33 multiple synostoses syndrome 10.1 GDF5-AS1 GDF5 COL10A1
34 kohler's disease 10.1 COL2A1 COL11A2 COL11A1
35 achondrogenesis, type ia 10.1 SLC26A2 COL2A1
36 bone deterioration disease 10.1 GDF5 COL2A1 ACAN
37 retinal perforation 10.1 COL2A1 COL11A2 COL11A1
38 exostosis 10.1 GDF5 COL2A1 ACAN
39 bone structure disease 10.1 GDF5 COL2A1 ACAN
40 patella, chondromalacia of 10.1 COMP COL2A1 ACAN
41 multiple epiphyseal dysplasia, autosomal dominant 10.1 MATN3 COMP COL9A1
42 chondromalacia 10.1 MATN1 COMP ACAN
43 spondylolisthesis 10.0 GDF5 ACAN
44 metachondromatosis 10.0 COL2A1 COL10A1
45 macroglossia 10.0 COL9A1 COL2A1 COL11A1
46 acromesomelic dysplasia 10.0 GDF5-AS1 GDF5 COL2A1 COL10A1
47 polydactyly 10.0
48 microtia 10.0
49 thanatophoric dysplasia, type i 10.0
50 metaphyseal dysplasia 10.0 MATN3 COL2A1 COL10A1

Graphical network of the top 20 diseases related to Achondrogenesis, Type Ii:



Diseases related to Achondrogenesis, Type Ii

Symptoms & Phenotypes for Achondrogenesis, Type Ii

Human phenotypes related to Achondrogenesis, Type Ii:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short long bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003026
2 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
3 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
4 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
5 micromelia 58 31 frequent (33%) Frequent (79-30%) HP:0002983
6 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
7 pulmonary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002089
8 edema 58 31 frequent (33%) Frequent (79-30%) HP:0000969
9 pierre-robin sequence 58 31 frequent (33%) Frequent (79-30%) HP:0000201
10 short ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000773
11 hypoplastic ilia 58 31 frequent (33%) Frequent (79-30%) HP:0000946
12 delayed pubic bone ossification 58 31 frequent (33%) Frequent (79-30%) HP:0008788
13 delayed proximal femoral epiphyseal ossification 58 31 frequent (33%) Frequent (79-30%) HP:0008828
14 unossified sacrum 58 31 frequent (33%) Frequent (79-30%) HP:0030290
15 absent vertebral body mineralization 58 31 frequent (33%) Frequent (79-30%) HP:0004605
16 delayed vertebral ossification 58 31 frequent (33%) Frequent (79-30%) HP:0031096
17 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
18 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
19 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
20 lens subluxation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001132
21 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
22 abnormal vitreous humor morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0004327
23 cardiorespiratory arrest 58 31 occasional (7.5%) Occasional (29-5%) HP:0006543
24 disproportionate short-trunk short stature 31 HP:0003521
25 cleft palate 31 HP:0000175
26 hydrops fetalis 31 HP:0001789
27 cystic hygroma 31 HP:0000476
28 polyhydramnios 31 HP:0001561
29 abnormality of the eye 58 Frequent (79-30%)
30 disproportionate short-limb short stature 31 HP:0008873
31 broad long bones 31 HP:0005622
32 abdominal distention 31 HP:0003270
33 abnormal bone ossification 58 Very frequent (99-80%)
34 hypoplastic iliac wing 31 HP:0002866
35 horizontal ribs 31 HP:0000888
36 barrel-shaped chest 31 HP:0001552
37 short tubular bones of the hand 31 HP:0001248
38 abnormal foot morphology 31 HP:0001760

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
cleft palate

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Spine:
absent vertebral body mineralization

Skeletal Feet:
short tubular bones
non-ossified talus and calcaneus

Growth Height:
dwarfism, marked micromelic

Skeletal Skull:
enlarged calvaria with normal ossification

Skeletal Limbs:
very short, broad tubular bones
flared, cupped metaphyses

Prenatal Manifestations Delivery:
stillborn or death shortly after birth

Head And Neck Neck:
cystic hygroma

Chest External Features:
barrel-shaped chest
short trunk

Skeletal Hands:
short tubular bones

Chest Ribs Sternum Clavicles And Scapulae:
short, horizontal ribs
normal clavicles

Abdomen External Features:
distended abdomen

Skeletal Pelvis:
non-ossified sacrum, ischial, and pubic bones
small iliac wings with concave inferior and medial margin

Prenatal Manifestations:
fetal hydrops

Clinical features from OMIM®:

200610 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Achondrogenesis, Type Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.7 COL10A1 COL11A1 COL11A2 COL27A1 COL2A1 FMOD
2 limbs/digits/tail MP:0005371 9.65 COL10A1 COL11A1 COL27A1 COL2A1 COL9A1 COMP
3 skeleton MP:0005390 9.44 CD36 COL10A1 COL11A1 COL11A2 COL27A1 COL2A1

Drugs & Therapeutics for Achondrogenesis, Type Ii

Search Clinical Trials , NIH Clinical Center for Achondrogenesis, Type Ii

Genetic Tests for Achondrogenesis, Type Ii

Genetic tests related to Achondrogenesis, Type Ii:

# Genetic test Affiliating Genes
1 Achondrogenesis Type Ii 29 COL2A1

Anatomical Context for Achondrogenesis, Type Ii

The Foundational Model of Anatomy Ontology organs/tissues related to Achondrogenesis, Type Ii:

19
Vertebral Column, Pelvis

MalaCards organs/tissues related to Achondrogenesis, Type Ii:

40
Bone, Eye

Publications for Achondrogenesis, Type Ii

Articles related to Achondrogenesis, Type Ii:

(show top 50) (show all 66)
# Title Authors PMID Year
1
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. 61 54 6 57
17994563 2007
2
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. 57 61 54 6
15054848 2004
3
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. 57 6
1429602 1992
4
Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism. 6 57
2572591 1989
5
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. 6 57
3195588 1988
6
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 54
7829510 1995
7
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. 57 61
20583175 2010
8
Achondrogenesis type II with polydactyly. 57 61
8588578 1995
9
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
10
Achondrogenesis type II, abnormalities of extracellular matrix. 61 57
3309860 1987
11
Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. 57 61
3717210 1986
12
Achondrogenesis: new nosology with evidence of genetic heterogeneity. 61 57
6878687 1983
13
Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino). 57 61
7036745 1981
14
Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family. 6
12900894 2003
15
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. 6
12124730 2002
16
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. 6
9288098 1997
17
Achondrogenesis type 1B. 57
8950678 1996
18
Cardiac malformation in two infants with hypochondrogenesis. 57
8599352 1995
19
Prevalence of lethal osteochondrodysplasias in Denmark. 57
2789000 1989
20
The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis. 57
2714779 1989
21
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. 57
3057886 1988
22
Abnormal type II collagen in the spondyloepiphyseal dysplasias. 57
3222214 1988
23
Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis. 57
3752081 1986
24
Hypochondrogenesis; an additional case. 57
6628450 1983
25
[Morphological and biochemical study of growth cartilage in osteochondrodysplasias]. 57
70194 1977
26
Fatal neonatal dwarfism. 57
5063132 1972
27
Pseudo-achondrogenesis with fractures. 57
4568361 1972
28
Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. 57
5582025 1971
29
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. 54 61
10797431 2000
30
Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update. 61 54
1563395 1992
31
A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis. 61
33316082 2021
32
Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computerized tomography. 61
33070083 2021
33
Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases. 61
31392067 2019
34
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. 61
26443184 2016
35
Stickler syndrome associated with epilepsy: report of three cases. 61
25809783 2015
36
Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling. 61
25823796 2015
37
Antenatal diagnosis of achondrogenesis type II. 61
20387359 2009
38
[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]. 61
19522446 2009
39
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. 61
19072565 2008
40
Visceral manifestations of hypochondrogenesis. 61
18642028 2008
41
Achondrogenesis type II with cutaneous hamartomata. 61
18541971 2008
42
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). 61
15574381 2005
43
Achondrogenesis type II with normally developed extremities: a case report. 61
12124695 2002
44
[Achondrogenesis type II-hypochondrogenesis: radiological features.Case report]. 61
11730591 2001
45
[Osteochondrodysplasia determined genetically by a collagen type II gene mutation]. 61
11481990 2001
46
Tracheomalacia in a neonate with kniest dysplasia: histopathologic and ultrastructural features. 61
11297324 2001
47
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. 61
11069003 2000
48
[Lethal osteochondrodysplasias: prenatal and postnatal differential diagnosis]. 61
10929597 2000
49
A case of achondrogenesis type II associated with huge cystic hygroma: prenatal diagnosis by ultrasonography. 61
10586482 1999
50
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. 61
9468540 1998

Variations for Achondrogenesis, Type Ii

ClinVar genetic disease variations for Achondrogenesis, Type Ii:

6 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr) SNV Pathogenic 8379 rs74315387 GRCh37: 20:34022014-34022014
GRCh38: 20:35434216-35434216
2 GDF5 NM_000557.5(GDF5):c.297dup (p.Arg100fs) Duplication Pathogenic 8380 rs761962752 GRCh37: 20:34025411-34025412
GRCh38: 20:35437631-35437632
3 COL2A1 NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser) SNV Pathogenic 17352 rs121912864 GRCh37: 12:48371156-48371156
GRCh38: 12:47977373-47977373
4 COL2A1 NM_001844.5(COL2A1):c.2320G>A (p.Gly774Ser) SNV Pathogenic 17357 rs121912867 GRCh37: 12:48375925-48375925
GRCh38: 12:47982142-47982142
5 COL2A1 NM_001844.5(COL2A1):c.3158G>A (p.Gly1053Glu) SNV Pathogenic 17359 rs121912868 GRCh37: 12:48371390-48371390
GRCh38: 12:47977607-47977607
6 COL2A1 NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser) SNV Pathogenic 17371 rs121912878 GRCh37: 12:48372172-48372172
GRCh38: 12:47978389-47978389
7 COL2A1 NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg) SNV Pathogenic 17372 rs121912879 GRCh37: 12:48373800-48373800
GRCh38: 12:47980017-47980017
8 COL2A1 NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp) SNV Pathogenic 17388 rs121912888 GRCh37: 12:48379729-48379729
GRCh38: 12:47985946-47985946
9 COL2A1 NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val) SNV Pathogenic 17403 rs121912899 GRCh37: 12:48379554-48379554
GRCh38: 12:47985771-47985771
10 COL2A1 NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu) SNV Pathogenic 488485 rs1555166729 GRCh37: 12:48377482-48377482
GRCh38: 12:47983699-47983699
11 COL2A1 NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val) SNV Pathogenic 374042 rs765795867 GRCh37: 12:48371881-48371881
GRCh38: 12:47978098-47978098
12 COL2A1 NM_001844.5(COL2A1):c.2355+1G>A SNV Pathogenic 932069 GRCh37: 12:48375889-48375889
GRCh38: 12:47982106-47982106
13 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
14 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
15 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic 195148 rs794727261 GRCh37: 12:48393736-48393736
GRCh38: 12:47999953-47999953
16 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1144del (p.Ala382fs) Deletion Pathogenic/Likely pathogenic 623302 rs1568731526 GRCh37: 20:34022069-34022069
GRCh38: 20:35434271-35434271
17 COL2A1 NM_001844.5(COL2A1):c.1680+2T>G SNV Likely pathogenic 633176 rs1565681966 GRCh37: 12:48379509-48379509
GRCh38: 12:47985726-47985726
18 COL2A1 NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu) SNV Likely pathogenic 633177 rs868417981 GRCh37: 12:48380126-48380126
GRCh38: 12:47986343-47986343
19 COL2A1 NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del) Deletion Likely pathogenic 438682 rs1555165335 GRCh37: 12:48371825-48371842
GRCh38: 12:47978042-47978059
20 COL2A1 NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser) SNV Likely pathogenic 439511 rs1555165245 GRCh37: 12:48371409-48371409
GRCh38: 12:47977626-47977626
21 COL2A1 NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) SNV Likely pathogenic 17383 rs121912884 GRCh37: 12:48379358-48379358
GRCh38: 12:47985575-47985575
22 COL2A1 NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg) SNV Likely pathogenic 374117 rs1057518911 GRCh37: 12:48370314-48370314
GRCh38: 12:47976531-47976531
23 COL2A1 NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln) SNV Uncertain significance 930628 GRCh37: 12:48369768-48369768
GRCh38: 12:47975985-47975985
24 COL2A1 NM_001844.5(COL2A1):c.2111dup (p.Gly705fs) Duplication Uncertain significance 931126 GRCh37: 12:48376712-48376713
GRCh38: 12:47982929-47982930
25 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys) SNV Uncertain significance 828159 rs758630897 GRCh37: 20:34022132-34022132
GRCh38: 20:35434334-35434334
26 COL2A1 NM_001844.5(COL2A1):c.1941+18C>T SNV Uncertain significance 931738 GRCh37: 12:48377852-48377852
GRCh38: 12:47984069-47984069
27 GDF5 NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) SNV Uncertain significance 895672 GRCh37: 20:34025483-34025483
GRCh38: 20:35437703-35437703
28 COL2A1 NM_001844.5(COL2A1):c.3690G>C (p.Glu1230Asp) SNV Uncertain significance 930229 GRCh37: 12:48369296-48369296
GRCh38: 12:47975513-47975513
29 COL2A1 NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile) SNV Uncertain significance 1003699 GRCh37: 12:48371388-48371388
GRCh38: 12:47977605-47977605
30 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain significance 547841 rs886042009 GRCh37: 12:48374344-48374344
GRCh38: 12:47980561-47980561
31 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) SNV Uncertain significance 308931 rs142770543 GRCh37: 12:48388220-48388220
GRCh38: 12:47994437-47994437
32 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-236G>A SNV Uncertain significance 898778 GRCh37: 20:34025944-34025944
GRCh38: 20:35438164-35438164
33 GDF5 NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) SNV Uncertain significance 595155 rs373973964 GRCh37: 20:34025684-34025684
GRCh38: 20:35437904-35437904
34 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-134C>G SNV Uncertain significance 896024 GRCh37: 20:34025842-34025842
GRCh38: 20:35438062-35438062
35 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-97T>C SNV Uncertain significance 895743 GRCh37: 20:34025805-34025805
GRCh38: 20:35438025-35438025
36 GDF5 NM_000557.5(GDF5):c.506C>A (p.Pro169His) SNV Uncertain significance 895610 GRCh37: 20:34025203-34025203
GRCh38: 20:35437423-35437423
37 GDF5 NM_000557.5(GDF5):c.631+6G>A SNV Uncertain significance 895609 GRCh37: 20:34025072-34025072
GRCh38: 20:35437292-35437292
38 GDF5 NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) SNV Uncertain significance 338323 rs199666386 GRCh37: 20:34025541-34025541
GRCh38: 20:35437761-35437761
39 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*166G>A SNV Uncertain significance 338315 rs569761315 GRCh37: 20:34021541-34021541
GRCh38: 20:35433743-35433743
40 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-220C>T SNV Uncertain significance 338327 rs886056643 GRCh37: 20:34025928-34025928
GRCh38: 20:35438148-35438148
41 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*259G>C SNV Uncertain significance 895466 GRCh37: 20:34021448-34021448
GRCh38: 20:35433650-35433650
42 GDF5 NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) SNV Uncertain significance 895673 GRCh37: 20:34025503-34025503
GRCh38: 20:35437723-35437723
43 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1374C>G (p.Pro458=) SNV Uncertain significance 896867 GRCh37: 20:34021839-34021839
GRCh38: 20:35434041-35434041
44 GDF5 NM_000557.5(GDF5):c.483G>A (p.Pro161=) SNV Uncertain significance 897014 GRCh37: 20:34025226-34025226
GRCh38: 20:35437446-35437446
45 GDF5 NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) SNV Uncertain significance 897084 GRCh37: 20:34025527-34025527
GRCh38: 20:35437747-35437747
46 GDF5 NM_000557.5(GDF5):c.57G>T (p.Leu19=) SNV Uncertain significance 897561 GRCh37: 20:34025652-34025652
GRCh38: 20:35437872-35437872
47 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) SNV Uncertain significance 895535 GRCh37: 20:34022146-34022146
GRCh38: 20:35434348-35434348
48 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.855C>T (p.Gly285=) SNV Uncertain significance 338320 rs149593773 GRCh37: 20:34022358-34022358
GRCh38: 20:35434560-35434560
49 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1104C>T (p.Thr368=) SNV Uncertain significance 338317 rs748907807 GRCh37: 20:34022109-34022109
GRCh38: 20:35434311-35434311
50 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*520T>C SNV Likely benign 338309 rs188252641 GRCh37: 20:34021187-34021187
GRCh38: 20:35433389-35433389

UniProtKB/Swiss-Prot genetic disease variations for Achondrogenesis, Type Ii:

72 (show all 22)
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly510Asp VAR_001747
2 COL2A1 p.Gly891Arg VAR_001752 rs121912879
3 COL2A1 p.Gly969Ser VAR_001754 rs121912878
4 COL2A1 p.Gly1017Val VAR_001757
5 COL2A1 p.Gly1110Cys VAR_001759
6 COL2A1 p.Gly1143Ser VAR_001761
7 COL2A1 p.Gly1188Arg VAR_001764
8 COL2A1 p.Gly453Asp VAR_017639 rs794727339
9 COL2A1 p.Gly453Val VAR_017640
10 COL2A1 p.Gly771Asp VAR_017641
11 COL2A1 p.Gly780Arg VAR_017642
12 COL2A1 p.Gly795Arg VAR_017643
13 COL2A1 p.Gly894Glu VAR_017644
14 COL2A1 p.Gly948Asp VAR_017646
15 COL2A1 p.Gly981Ser VAR_017647
16 COL2A1 p.Gly1065Val VAR_017649
17 COL2A1 p.Gly1119Arg VAR_017650
18 COL2A1 p.Gly516Asp VAR_023926 rs121912888
19 COL2A1 p.Gly513Ser VAR_024819 rs155516715
20 COL2A1 p.Gly717Val VAR_024820
21 COL2A1 p.Gly771Ala VAR_024821
22 COL2A1 p.Asp547Val VAR_063897

Expression for Achondrogenesis, Type Ii

Search GEO for disease gene expression data for Achondrogenesis, Type Ii.

Pathways for Achondrogenesis, Type Ii

Pathways related to Achondrogenesis, Type Ii according to KEGG:

36
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151
2 Focal adhesion hsa04510
3 ECM-receptor interaction hsa04512

Pathways related to Achondrogenesis, Type Ii according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 GDF5 COL9A1 COL2A1 COL27A1 COL11A2 COL11A1
2
Show member pathways
13.15 COL9A1 COL2A1 COL27A1 COL11A2 COL11A1 COL10A1
3
Show member pathways
12.82 GDF5 COL9A1 COL2A1 COL27A1 COL11A2 COL11A1
4
Show member pathways
12.64 COMP COL9A1 COL2A1 COL11A2 COL11A1
5
Show member pathways
12.58 COL9A1 COL2A1 COL27A1 COL11A2 COL11A1 COL10A1
6
Show member pathways
12.05 MATN3 MATN1 GDF5 FMOD COMP COL9A1
7
Show member pathways
11.93 COMP COL9A1 COL2A1 CD36
8 11.65 GDF5 COL2A1 ACAN
9 11.45 COL2A1 COL10A1 ACAN
10 11.19 MATN3 MATN1 FMOD COMP COL9A1 ACAN
11 11.11 FMOD COMP COL2A1 ACAN
12
Show member pathways
10.85 FMOD ACAN
13 10.66 GDF5 COL9A1 COL2A1 COL27A1 COL11A2 COL11A1

GO Terms for Achondrogenesis, Type Ii

Cellular components related to Achondrogenesis, Type Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.1 MATN3 MATN1 GDF5 FMOD COMP COL9A1
2 extracellular space GO:0005615 10.07 GDF5 FMOD COMP COL9A1 COL2A1 COL27A1
3 endoplasmic reticulum lumen GO:0005788 9.8 MATN3 COL9A1 COL2A1 COL27A1 COL11A2 COL11A1
4 collagen trimer GO:0005581 9.7 COL9A1 COL2A1 COL27A1 COL11A2 COL11A1 COL10A1
5 collagen-containing extracellular matrix GO:0062023 9.7 MATN3 MATN1 FMOD COMP COL9A1 COL2A1
6 basement membrane GO:0005604 9.61 COL9A1 COL2A1 ACAN
7 collagen type XI trimer GO:0005592 9.4 COL11A2 COL11A1
8 extracellular matrix GO:0031012 9.36 MATN3 MATN1 FMOD COMP COL9A1 COL2A1

Biological processes related to Achondrogenesis, Type Ii according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.73 MATN3 COMP COL2A1 COL11A2 COL10A1 ACAN
2 sensory perception of sound GO:0007605 9.72 COL2A1 COL11A2 COL11A1
3 ossification GO:0001503 9.71 SLC26A2 COMP COL2A1 COL11A1
4 chondrocyte differentiation GO:0002062 9.65 MATN1 COL2A1 COL11A2
5 cartilage development GO:0051216 9.63 MATN3 GDF5 COMP COL2A1 COL11A2 COL11A1
6 skeletal system morphogenesis GO:0048705 9.61 COL2A1 COL11A2 COL11A1
7 keratan sulfate biosynthetic process GO:0018146 9.56 FMOD ACAN
8 regulation of bone mineralization GO:0030500 9.54 MATN1 COMP
9 cartilage condensation GO:0001502 9.54 COL2A1 COL11A1 ACAN
10 tissue homeostasis GO:0001894 9.52 COL2A1 COL11A2
11 keratan sulfate catabolic process GO:0042340 9.51 FMOD ACAN
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 collagen fibril organization GO:0030199 9.43 FMOD COMP COL2A1 COL11A2 COL11A1 ACAN
16 extracellular matrix organization GO:0030198 9.32 MATN3 MATN1 COMP COL9A1 COL2A1 COL27A1

Molecular functions related to Achondrogenesis, Type Ii 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 COL9A1 COL2A1 COL27A1 COL11A2 COL11A1 COL10A1
2 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.32 FMOD ACAN
3 extracellular matrix structural constituent GO:0005201 9.32 MATN3 MATN1 COMP COL9A1 COL2A1 COL27A1
4 proteoglycan binding GO:0043394 9.26 COMP COL2A1
5 BMP binding GO:0036122 9.16 GDF5 COMP

Sources for Achondrogenesis, Type Ii

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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