ACG2
MCID: ACH041
MIFTS: 50

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 58 30 56 6 41
Achondrogenesis Type Ii 12 77 76 38 15
Achondrogenesis, Langer-Saldino Type 58 54 60
Achondrogenesis Type 2 77 54 60
Acg2 58 54 76
Achondrogenesis, Type Ii or Hypochondrogenesis 58 13
Chondrogenesis Imperfecta 58 54
Hypochondrogenesis 60 74
Achondrogenesis-Hypochondrogenesis Type Ii 76
Achondrogenesis Langer-Saldino Type 76
Achondrogenesis, Type Ib, Formerly 58
Langer-Saldino Achondrogenesis 54
Achondrogenesis 2 76
Acg-Ii 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
achondrogenesis, type ii:
Mortality/Aging stillbirth
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Achondrogenesis, Type Ii

OMIM : 58 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)

MalaCards based summary : Achondrogenesis, Type Ii, also known as achondrogenesis type ii, is related to spondyloepiphyseal dysplasia with congenital joint dislocations 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 bone, lung and skin, and related phenotypes are macrocephaly and short neck

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.

UniProtKB/Swiss-Prot : 76 Achondrogenesis 2: An autosomal dominant disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones.

Wikipedia : 77 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 all 43)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 31.6 ACAN COL2A1
2 spondyloepiphyseal dysplasia congenita 31.4 COL2A1 COMP SEMA3A
3 hypochondrogenesis 30.7 ACAN COL2A1 COMP FMOD LOC105369752 SEMA3A
4 chondrodysplasia, grebe type 11.2
5 achondrogenesis 10.7
6 epiphyseal dysplasia, multiple, with myopia and conductive deafness 10.3 COL2A1 LOC105369752
7 spondyloperipheral dysplasia 10.3 COL2A1 LOC105369752
8 osteoarthritis with mild chondrodysplasia 10.3 COL2A1 LOC105369752
9 osteochondrosis 10.2 CD36 COL2A1
10 spondyloepimetaphyseal dysplasia, strudwick type 10.2 COL2A1 SEMA3A
11 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.1 COL2A1 SEMA3A
12 skeletal dysplasias 10.1 COL2A1 COMP
13 brittle bone disorder 10.0 CD36 COL2A1
14 diastrophic dysplasia 10.0 COL2A1 COMP
15 dwarfism 10.0
16 polydactyly 10.0
17 cystic lymphangioma 10.0
18 hygroma cervical 10.0
19 achondrogenesis, type ia 10.0 ACAN COL2A1
20 relapsing polychondritis 10.0 COMP MATN1
21 simpson-golabi-behmel syndrome, type 1 10.0 ACAN COL2A1
22 bone development disease 10.0 COL2A1 COMP
23 odontogenic myxoma 9.9 ACAN CD36
24 bone deterioration disease 9.9 ACAN COL2A1
25 ischemic bone disease 9.9 ACAN COL2A1
26 spinal stenosis 9.9 ACAN COL2A1
27 bone structure disease 9.9 ACAN COL2A1
28 achondroplasia 9.8 ACAN COMP
29 bone chondrosarcoma 9.8 ACAN COMP
30 transient arthritis 9.8 ACAN COMP
31 bone disease 9.7 ACAN CD36 COL2A1
32 epiphyseal dysplasia, multiple, 1 9.7 ACAN COMP
33 osteochondritis dissecans 9.7 ACAN COMP
34 idiopathic scoliosis 9.7 ACAN MATN1
35 scoliosis 9.7 ACAN COL2A1 MATN1
36 cartilage disease 9.7 ACAN COL2A1 COMP
37 multiple epiphyseal dysplasia 9.6 ACAN COL2A1 COMP
38 bone inflammation disease 9.6 ACAN COL2A1 COMP
39 osteoarthritis 9.6 ACAN COL2A1 COMP
40 autosomal dominant disease 9.6 ACAN COL2A1
41 pseudoachondroplasia 9.6 ACAN COMP FMOD
42 kniest dysplasia 9.6 COL2A1 COMP FMOD SEMA3A
43 arthropathy 9.6 ACAN COMP

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:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
3 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
4 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
5 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
6 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
7 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
8 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
9 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
10 hydrops fetalis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001789
11 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
12 thickened nuchal skin fold 60 33 hallmark (90%) Very frequent (99-80%) HP:0000474
13 disproportionate short-limb short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008873
14 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%) HP:0003270
15 aplasia/hypoplasia of the lungs 60 33 hallmark (90%) Very frequent (99-80%) HP:0006703
16 abnormal enchondral ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0003336
17 lethal skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005716
18 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
19 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
20 femoral hernia 60 33 frequent (33%) Frequent (79-30%) HP:0100541
21 cystic hygroma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000476
22 postaxial hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001162
23 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
24 cleft palate 33 HP:0000175
25 edema 33 HP:0000969
26 malformation of the heart and great vessels 60 Occasional (29-5%)
27 disproportionate short-trunk short stature 33 HP:0003521
28 short long bone 33 HP:0003026
29 abnormality of the foot 33 HP:0001760
30 hypoplastic iliac wing 33 HP:0002866
31 broad long bones 33 HP:0005622
32 thoracic hypoplasia 60 Very frequent (99-80%)
33 barrel-shaped chest 33 HP:0001552
34 short ribs 33 HP:0000773
35 short tubular bones of the hand 33 HP:0001248
36 absent vertebral body mineralization 33 HP:0004605
37 horizontal ribs 33 HP:0000888

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
cleft palate

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Hands:
short tubular bones

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

Abdomen External Features:
distended abdomen

Skeletal Spine:
absent vertebral body mineralization

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 Feet:
short tubular bones
non-ossified talus and calcaneus

Growth Height:
dwarfism, marked micromelic

Skeletal Skull:
enlarged calvaria with normal ossification

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

MGI Mouse Phenotypes related to Achondrogenesis, Type Ii:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.1 CD36 COL2A1 COMP FMOD MATN1 SEMA3A

Drugs & Therapeutics for Achondrogenesis, Type Ii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search 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 30 COL2A1

Anatomical Context for Achondrogenesis, Type Ii

MalaCards organs/tissues related to Achondrogenesis, Type Ii:

42
Bone, Lung, Skin, Heart

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

20
Vertebral Column Or

Publications for Achondrogenesis, Type Ii

Articles related to Achondrogenesis, Type Ii:

(show all 20)
# Title Authors Year
1
Antenatal diagnosis of achondrogenesis type II. ( 20387359 )
2009
2
Achondrogenesis type II with cutaneous hamartomata. ( 18541971 )
2008
3
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father. ( 17994563 )
2007
4
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). ( 15574381 )
2005
5
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. ( 15054848 )
2004
6
Achondrogenesis type II with normally developed extremities: a case report. ( 12124695 )
2002
7
[Achondrogenesis type II-hypochondrogenesis: radiological features.Case report]. ( 11730591 )
2001
8
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. ( 10797431 )
2000
9
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. ( 11069003 )
2000
10
A case of achondrogenesis type II associated with huge cystic hygroma: prenatal diagnosis by ultrasonography. ( 10586482 )
1999
11
Achondrogenesis type II (Langer-Saldino)--a case report. ( 8798967 )
1995
12
Achondrogenesis type II with polydactyly. ( 8588578 )
1995
13
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. ( 7829510 )
1995
14
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. ( 7757081 )
1995
15
Achondrogenesis type II (Langer-Saldino). ( 8375887 )
1993
16
Achondrogenesis type II (Langer-Saldino) in association with jugular lymphatic obstruction sequence. ( 2671977 )
1989
17
Achondrogenesis type II. ( 3222064 )
1988
18
Achondrogenesis type II, abnormalities of extracellular matrix. ( 3309860 )
1987
19
Achondrogenesis: a review with special consideration of achondrogenesis type II (Langer-Saldino). ( 7036745 )
1981
20
Achondrogenesis type II in twins. ( 7192589 )
1981

Variations for Achondrogenesis, Type Ii

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

76 (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
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
20 COL2A1 p.Gly717Val VAR_024820
21 COL2A1 p.Gly771Ala VAR_024821
22 COL2A1 p.Asp547Val VAR_063897

ClinVar genetic disease variations for Achondrogenesis, Type Ii:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.3220G> A (p.Gly1074Ser) single nucleotide variant Pathogenic rs121912864 GRCh37 Chromosome 12, 48371156: 48371156
2 COL2A1 NM_001844.4(COL2A1): c.3220G> A (p.Gly1074Ser) single nucleotide variant Pathogenic rs121912864 GRCh38 Chromosome 12, 47977373: 47977373
3 COL2A1 NM_001844.4(COL2A1): c.2320G> A (p.Gly774Ser) single nucleotide variant Pathogenic rs121912867 GRCh37 Chromosome 12, 48375925: 48375925
4 COL2A1 NM_001844.4(COL2A1): c.2320G> A (p.Gly774Ser) single nucleotide variant Pathogenic rs121912867 GRCh38 Chromosome 12, 47982142: 47982142
5 COL2A1 NM_001844.4(COL2A1): c.3158G> A (p.Gly1053Glu) single nucleotide variant Pathogenic rs121912868 GRCh37 Chromosome 12, 48371390: 48371390
6 COL2A1 NM_001844.4(COL2A1): c.3158G> A (p.Gly1053Glu) single nucleotide variant Pathogenic rs121912868 GRCh38 Chromosome 12, 47977607: 47977607
7 COL2A1 NM_001844.4(COL2A1): c.2905G> A (p.Gly969Ser) single nucleotide variant Pathogenic rs121912878 GRCh37 Chromosome 12, 48372172: 48372172
8 COL2A1 NM_001844.4(COL2A1): c.2905G> A (p.Gly969Ser) single nucleotide variant Pathogenic rs121912878 GRCh38 Chromosome 12, 47978389: 47978389
9 COL2A1 NM_001844.4(COL2A1): c.2671G> C (p.Gly891Arg) single nucleotide variant Pathogenic rs121912879 GRCh37 Chromosome 12, 48373800: 48373800
10 COL2A1 NM_001844.4(COL2A1): c.2671G> C (p.Gly891Arg) single nucleotide variant Pathogenic rs121912879 GRCh38 Chromosome 12, 47980017: 47980017
11 COL2A1 NM_001844.4(COL2A1): c.1547G> A (p.Gly516Asp) single nucleotide variant Pathogenic rs121912888 GRCh37 Chromosome 12, 48379729: 48379729
12 COL2A1 NM_001844.4(COL2A1): c.1547G> A (p.Gly516Asp) single nucleotide variant Pathogenic rs121912888 GRCh38 Chromosome 12, 47985946: 47985946
13 COL2A1 NM_001844.4(COL2A1): c.1637G> T (p.Gly546Val) single nucleotide variant Pathogenic rs121912899 GRCh37 Chromosome 12, 48379554: 48379554
14 COL2A1 NM_001844.4(COL2A1): c.1637G> T (p.Gly546Val) single nucleotide variant Pathogenic rs121912899 GRCh38 Chromosome 12, 47985771: 47985771
15 COL2A1 NM_001844.4(COL2A1): c.3062_3079del18 (p.Pro1021_Gly1026del) deletion Likely pathogenic rs1555165335 GRCh37 Chromosome 12, 48371825: 48371842
16 COL2A1 NM_001844.4(COL2A1): c.3062_3079del18 (p.Pro1021_Gly1026del) deletion Likely pathogenic rs1555165335 GRCh38 Chromosome 12, 47978042: 47978059
17 COL2A1 NM_001844.4(COL2A1): c.1979G> A (p.Gly660Glu) single nucleotide variant Pathogenic rs1555166729 GRCh37 Chromosome 12, 48377482: 48377482
18 COL2A1 NM_001844.4(COL2A1): c.1979G> A (p.Gly660Glu) single nucleotide variant Pathogenic rs1555166729 GRCh38 Chromosome 12, 47983699: 47983699
19 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh37 Chromosome 12, 48374344: 48374344
20 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh38 Chromosome 12, 47980561: 47980561

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:

38
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151
2 Focal adhesion hsa04510
3 ECM-receptor interaction hsa04512

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 9.73 ACAN COL2A1 COMP FMOD MATN1 SEMA3A
2 extracellular space GO:0005615 9.63 CD36 COL2A1 COMP FMOD MATN1 SEMA3A
3 basement membrane GO:0005604 9.37 ACAN COL2A1
4 extracellular matrix GO:0031012 9.35 ACAN COL2A1 COMP FMOD MATN1
5 lysosomal lumen GO:0043202 9.32 ACAN FMOD
6 collagen-containing extracellular matrix GO:0062023 9.02 ACAN COL2A1 COMP FMOD MATN1

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.43 ACAN COL2A1 COMP
2 keratan sulfate biosynthetic process GO:0018146 9.37 ACAN FMOD
3 cartilage condensation GO:0001502 9.32 ACAN COL2A1
4 keratan sulfate catabolic process GO:0042340 9.16 ACAN FMOD
5 collagen fibril organization GO:0030199 9.13 ACAN COL2A1 FMOD
6 extracellular matrix organization GO:0030198 8.92 ACAN COL2A1 COMP MATN1

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 compression resistance GO:0030021 8.96 ACAN FMOD
2 extracellular matrix structural constituent GO:0005201 8.92 ACAN COL2A1 COMP MATN1

Sources for Achondrogenesis, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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