MCID: ACH032
MIFTS: 49

Achondrogenesis, Type Ii or Hypochondrogenesis

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

Aliases & Classifications for Achondrogenesis, Type Ii or Hypochondrogenesis

MalaCards integrated aliases for Achondrogenesis, Type Ii or Hypochondrogenesis:

Name: Achondrogenesis, Type Ii or Hypochondrogenesis 54 13
Achondrogenesis Type Ii 12 72 71 14
Achondrogenesis Type 2 50 24 56
Acg2 50 24 71
Achondrogenesis, Langer-Saldino Type 50 56
Langer-Saldino Achondrogenesis 50 24
Chondrogenesis Imperfecta 50 24
Achondrogenesis, Type Ii 29 52
Hypochondrogenesis 56 69
Achondrogenesis-Hypochondrogenesis, Type Ii 24
Achondrogenesis-Hypochondrogenesis Type Ii 71
Achondrogenesis Langer-Saldino Type 71
Achondrogenesis 2 71
Acg-Ii 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal dominant

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


HPO:

32
achondrogenesis, type ii or hypochondrogenesis:
Mortality/Aging stillbirth
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Achondrogenesis, Type Ii or Hypochondrogenesis

NIH Rare Diseases : 50 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, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.  there are at least three forms of achondrogenesis, type 1a, type 1b and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing.  type 1a and 1b achondrogenesis are both inherited in an autosomal recessive pattern.  type 1b may be caused by mutations in the slc26a2 gene.  type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the col2a1 gene. last updated: 10/18/2013

MalaCards based summary : Achondrogenesis, Type Ii or Hypochondrogenesis, also known as achondrogenesis type ii, is related to hypochondrogenesis and sed congenita, and has symptoms including umbilical hernia, micrognathia and polyhydramnios. An important gene associated with Achondrogenesis, Type Ii or Hypochondrogenesis is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include bone, lung and testes, and related phenotypes are cardiovascular system and limbs/digits/tail

UniProtKB/Swiss-Prot : 71 Achondrogenesis 2: A disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones.

OMIM : 54
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)

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.

Wikipedia : 72 Infants with achondrogenesis, type 2 have short arms and legs, a small chest with short ribs, and... more...

Related Diseases for Achondrogenesis, Type Ii or Hypochondrogenesis

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

(show all 47)
id Related Disease Score Top Affiliating Genes
1 hypochondrogenesis 11.3
2 sed congenita 10.9
3 stickler syndrome 10.6 COL2A1 DYNC2H1
4 marshall syndrome 10.6 COL11A1 COL2A1
5 craniodiaphyseal dysplasia 10.6 COL11A1 COL2A1
6 plantar nerve lesion 10.6 COL11A1 COL2A1
7 moyamoya disease 10.6 COL11A1 COL2A1
8 familial caudal dysgenesis 10.6 COL2A1 TRPV4
9 ureter cancer 10.6 COL11A1 COL2A1
10 wagner syndrome 10.6 COL11A1 COL2A1
11 adult-onset still's disease 10.5 COL11A1 COL2A1
12 laryngomalacia 10.5 COL11A1 COL2A1
13 osteopetrosis 10.5 CD36 COL2A1
14 epiphyseal dysplasia, multiple, with myopia and deafness 10.5 COL2A1 SEMA3A
15 legg-calve-perthes disease 10.5 COL2A1 TRPV4
16 achondrogenesis 10.5
17 malignant pleural solitary fibrous tumor 10.4 COL2A1 TRPV4
18 hemolytic anemia due to glutathione synthetase deficiency 10.4 COL2A1 COMP
19 polyglucosan body disease, adult form 10.4 COL2A1 TRPV4
20 leber congenital amaurosis 3 10.3 ACAN COL2A1
21 atelosteogenesis ii 10.3 COL2A1 COMP
22 charcot-marie-tooth disease type 5 10.3 COL11A1 COL2A1
23 myopathy with extrapyramidal signs 10.2 ACAN COL2A1
24 oligomeganephronic renal hypoplasia 10.2 ACAN CD36
25 bone structure disease 10.2 ACAN COL2A1
26 bone resorption disease 10.2 ACAN COL2A1
27 chromosomal disease 10.1 ACAN COL2A1
28 skin fragility-woolly hair-palmoplantar keratoderma syndrome 10.0 COL2A1 COMP TRPV4
29 vulvar sarcoma 10.0 ACAN COMP
30 ischemic bone disease 10.0 COL2A1 COMP
31 clubfoot 10.0 COL11A1 COL2A1 FMOD
32 spondyloepimetaphyseal dysplasia 10.0 ACAN COL2A1
33 osteonecrosis 9.9 ACAN COMP
34 epiphyseal dysplasia, multiple, 1 9.9 ACAN COMP
35 cerebral hemorrhage 9.8 ACAN COL2A1 COMP
36 hemangioma of spleen 9.8 COMP MATN1
37 mesenchymal cell neoplasm 9.8 ACAN COL2A1 COMP
38 polydactyly 9.8
39 glossopharyngeal nerve paralysis 9.7 ACAN COMP TRPV4
40 sulfite oxidase deficiency 9.6 COL11A1 COL2A1 COMP SEMA3A
41 hypochondroplasia 9.6 ACAN COMP
42 intermediate uveitis 9.5 ACAN COL11A1 COL2A1 COMP
43 slc6a4-related altered drug metabolism 9.4 ACAN COL2A1 COMP TRPV4
44 sclerocornea 9.1 ACAN MATN1
45 osteochondrosis 9.0 ACAN COL2A1 COMP MATN1
46 acromesomelic dysplasia 8.1 ACAN COL11A1 COL2A1 COMP FMOD SEMA3A
47 smed strudwick type 6.6 ACAN CD36 COL11A1 COL2A1 COMP DYNC2H1

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



Diseases related to Achondrogenesis, Type Ii or Hypochondrogenesis

Symptoms & Phenotypes for Achondrogenesis, Type Ii or Hypochondrogenesis

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
cleft palate

Prenatal Manifestations:
fetal hydrops

Chest- External Features:
barrel-shaped chest
short trunk

Prenatal Manifestations- Delivery:
stillborn or death shortly after birth

Skeletal- Hands:
short tubular bones

Growth- Height:
dwarfism, marked micromelic

Skeletal- Spine:
absent vertebral body mineralization

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

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios

Head And Neck- Neck:
cystic hygroma

Abdomen- External Features:
distended abdomen

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

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

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


Clinical features from OMIM:

200610

Human phenotypes related to Achondrogenesis, Type Ii or Hypochondrogenesis:

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 umbilical hernia 56 32 frequent (33%) Frequent (79-30%) HP:0001537
2 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
3 polyhydramnios 56 32 frequent (33%) Frequent (79-30%) HP:0001561
4 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
5 short nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0003196
6 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
7 short neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000470
8 narrow chest 56 32 hallmark (90%) Very frequent (99-80%) HP:0000774
9 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
10 long philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000343
11 flat face 56 32 hallmark (90%) Very frequent (99-80%) HP:0012368
12 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
13 cystic hygroma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000476
14 hydrops fetalis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001789
15 abdominal distention 56 32 hallmark (90%) Very frequent (99-80%) HP:0003270
16 femoral hernia 56 32 frequent (33%) Frequent (79-30%) HP:0100541
17 lethal skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0005716
18 thickened nuchal skin fold 56 32 hallmark (90%) Very frequent (99-80%) HP:0000474
19 disproportionate short-limb short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0008873
20 postaxial hand polydactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001162
21 aplasia/hypoplasia of the lungs 56 32 hallmark (90%) Very frequent (99-80%) HP:0006703
22 abnormal enchondral ossification 56 32 hallmark (90%) Very frequent (99-80%) HP:0003336
23 cleft palate 32 HP:0000175
24 short ribs 32 HP:0000773
25 edema 32 HP:0000969
26 horizontal ribs 32 HP:0000888
27 barrel-shaped chest 32 HP:0001552
28 hypoplastic iliac wing 32 HP:0002866
29 thoracic hypoplasia 56 Very frequent (99-80%)
30 absent vertebral body mineralization 32 HP:0004605
31 malformation of the heart and great vessels 56 Occasional (29-5%)
32 disproportionate short-trunk short stature 32 HP:0003521
33 short long bone 32 HP:0003026
34 abnormality of the foot 32 HP:0001760
35 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
36 broad long bones 32 HP:0005622
37 short tubular bones of the hand 32 HP:0001248

MGI Mouse Phenotypes related to Achondrogenesis, Type Ii or Hypochondrogenesis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 CD36 COL2A1 COMP DYNC2H1 FMOD SEMA3A
2 limbs/digits/tail MP:0005371 9.65 COL11A1 COL2A1 COMP DYNC2H1 FMOD
3 renal/urinary system MP:0005367 9.55 CD36 COL2A1 DYNC2H1 SEMA3A TRPV4
4 respiratory system MP:0005388 9.35 COL11A1 COL2A1 DYNC2H1 SEMA3A TRPV4
5 skeleton MP:0005390 9.23 DYNC2H1 FMOD MATN1 SEMA3A CD36 COL11A1

Drugs & Therapeutics for Achondrogenesis, Type Ii or Hypochondrogenesis

Interventional clinical trials:


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

Search NIH Clinical Center for Achondrogenesis, Type Ii or Hypochondrogenesis

Genetic Tests for Achondrogenesis, Type Ii or Hypochondrogenesis

Genetic tests related to Achondrogenesis, Type Ii or Hypochondrogenesis:

id Genetic test Affiliating Genes
1 Achondrogenesis, Type Ii 29
2 Achondrogenesis Type 2 24 COL2A1

Anatomical Context for Achondrogenesis, Type Ii or Hypochondrogenesis

MalaCards organs/tissues related to Achondrogenesis, Type Ii or Hypochondrogenesis:

39
Bone, Lung, Testes, Heart, Skin

Publications for Achondrogenesis, Type Ii or Hypochondrogenesis

Variations for Achondrogenesis, Type Ii or Hypochondrogenesis

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

71 (show all 22)
id 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 or Hypochondrogenesis:

6
id 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.2320G> A (p.Gly774Ser) single nucleotide variant Pathogenic rs121912867 GRCh37 Chromosome 12, 48375925: 48375925
3 COL2A1 NM_001844.4(COL2A1): c.3158G> A (p.Gly1053Glu) single nucleotide variant Pathogenic rs121912868 GRCh37 Chromosome 12, 48371390: 48371390
4 COL2A1 NM_001844.4(COL2A1): c.2905G> A (p.Gly969Ser) single nucleotide variant Pathogenic rs121912878 GRCh37 Chromosome 12, 48372172: 48372172
5 COL2A1 NM_001844.4(COL2A1): c.2671G> C (p.Gly891Arg) single nucleotide variant Pathogenic rs121912879 GRCh37 Chromosome 12, 48373800: 48373800
6 COL2A1 NM_001844.4(COL2A1): c.1547G> A (p.Gly516Asp) single nucleotide variant Pathogenic rs121912888 GRCh37 Chromosome 12, 48379729: 48379729
7 COL2A1 NM_001844.4(COL2A1): c.1637G> T (p.Gly546Val) single nucleotide variant Pathogenic rs121912899 GRCh37 Chromosome 12, 48379554: 48379554
8 COL2A1 NM_001844.4(COL2A1): c.2788G> C (p.Gly930Arg) single nucleotide variant Likely pathogenic rs886043540 GRCh37 Chromosome 12, 48372487: 48372487
9 COL2A1 NM_001844.4(COL2A1): c.1771G> C (p.Gly591Arg) single nucleotide variant Likely pathogenic rs886043712 GRCh37 Chromosome 12, 48378840: 48378840

Expression for Achondrogenesis, Type Ii or Hypochondrogenesis

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

Pathways for Achondrogenesis, Type Ii or Hypochondrogenesis

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 ACAN COL11A1 COL2A1 SEMA3A
2
Show member pathways
12.29 ACAN COL11A1 COL2A1 COMP FMOD MATN1
3 11.68 CD36 COMP DYNC2H1
4
Show member pathways
11.61 CD36 COL2A1 COMP
5 11.06 CD36 COMP
6 11.01 ACAN COMP FMOD MATN1
7 10.5 ACAN COL2A1 COMP FMOD

GO Terms for Achondrogenesis, Type Ii or Hypochondrogenesis

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.87 ACAN COL11A1 COL2A1 COMP FMOD MATN1
2 extracellular space GO:0005615 9.7 ACAN CD36 COL11A1 COL2A1 COMP FMOD
3 collagen trimer GO:0005581 9.43 CD36 COL11A1 COL2A1
4 extracellular matrix GO:0031012 9.35 ACAN COL11A1 COL2A1 COMP FMOD
5 proteinaceous extracellular matrix GO:0005578 9.1 ACAN COL11A1 COL2A1 COMP FMOD MATN1

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.58 ACAN COL2A1 COMP
2 negative regulation of neuron projection development GO:0010977 9.51 SEMA3A TRPV4
3 heart morphogenesis GO:0003007 9.49 COL11A1 COL2A1
4 skeletal system morphogenesis GO:0048705 9.48 COL11A1 COL2A1
5 keratan sulfate biosynthetic process GO:0018146 9.46 ACAN FMOD
6 cartilage condensation GO:0001502 9.43 COL11A1 COL2A1
7 chondrocyte development GO:0002063 9.37 ACAN COL11A1
8 extracellular matrix organization GO:0030198 9.35 ACAN COL11A1 COL2A1 COMP MATN1
9 keratan sulfate catabolic process GO:0042340 9.32 ACAN FMOD
10 proteoglycan metabolic process GO:0006029 9.26 COL11A1 COL2A1
11 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.16 COL2A1 TRPV4
12 collagen fibril organization GO:0030199 8.92 ACAN COL11A1 COL2A1 FMOD

Molecular functions related to Achondrogenesis, Type Ii or Hypochondrogenesis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.02 ACAN COL11A1 COL2A1 COMP MATN1

Sources for Achondrogenesis, Type Ii or Hypochondrogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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