MCID: ACH011
MIFTS: 44

Achondrogenesis

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

Aliases & Classifications for Achondrogenesis

MalaCards integrated aliases for Achondrogenesis:

Name: Achondrogenesis 12 72 49 24 55 28 14
Achondrogenesis Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
achondrogenesis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal;

Classifications:



Summaries for Achondrogenesis

NIH Rare Diseases : 49 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, also known as achondrogenesis syndrome, is related to achondrogenesis, type ii and achondrogenesis, type ia, and has symptoms including inguinal hernia, macrocephaly and long philtrum. An important gene associated with Achondrogenesis is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ECM-receptor interaction and Intraflagellar transport. Affiliated tissues include bone, testes and skin, and related phenotypes are craniofacial and limbs/digits/tail

Genetics Home Reference : 24 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.

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.

Wikipedia : 72 Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia... more...

Related Diseases for Achondrogenesis

Graphical network of the top 20 diseases related to Achondrogenesis:



Diseases related to Achondrogenesis

Symptoms & Phenotypes for Achondrogenesis

Human phenotypes related to Achondrogenesis:

55 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000023
2 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
3 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
4 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
7 thickened nuchal skin fold 55 31 hallmark (90%) Very frequent (99-80%) HP:0000474
8 cystic hygroma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000476
9 narrow chest 55 31 hallmark (90%) Very frequent (99-80%) HP:0000774
10 umbilical hernia 55 31 frequent (33%) Frequent (79-30%) HP:0001537
11 polyhydramnios 55 31 frequent (33%) Frequent (79-30%) HP:0001561
12 hydrops fetalis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001789
13 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
14 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002652
15 micromelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002983
16 short nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0003196
17 abnormal enchondral ossification 55 31 hallmark (90%) Very frequent (99-80%) HP:0003336
18 severe short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003510
19 abnormality of bone mineral density 55 31 hallmark (90%) Very frequent (99-80%) HP:0004348
20 aplasia/hypoplasia of the lungs 55 31 hallmark (90%) Very frequent (99-80%) HP:0006703
21 short thorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0010306
22 flat face 55 31 hallmark (90%) Very frequent (99-80%) HP:0012368
23 malformation of the heart and great vessels 55 Occasional (29-5%)
24 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680

MGI Mouse Phenotypes related to Achondrogenesis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 COL2A1 DYNC2H1 SLC26A2 TRIP11
2 limbs/digits/tail MP:0005371 9.35 COL2A1 COL9A2 DYNC2H1 SLC26A2 TRIP11
3 skeleton MP:0005390 9.02 COL2A1 COL9A2 DYNC2H1 SLC26A2 TRIP11

Drugs & Therapeutics for Achondrogenesis

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

Genetic Tests for Achondrogenesis

Genetic tests related to Achondrogenesis:

# Genetic test Affiliating Genes
1 Achondrogenesis 28

Anatomical Context for Achondrogenesis

MalaCards organs/tissues related to Achondrogenesis:

38
Bone, Testes, Skin, Lung, Heart

Publications for Achondrogenesis

Articles related to Achondrogenesis:

(show top 50) (show all 98)
# Title Authors Year
1
The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects. ( 29180569 )
2018
2
The phenotype range of achondrogenesis 1A. ( 23956106 )
2013
3
Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: Case report and differential diagnostic approach. ( 24144387 )
2013
4
Achondrogenesis type 1A--from mouse to human. ( 20089978 )
2010
5
Cause of achondrogenesis type 1A. ( 20847198 )
2010
6
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. ( 20583175 )
2010
7
Antenatal diagnosis of achondrogenesis type II. ( 20387359 )
2009
8
Prenatal diagnosis of achondrogenesis type I: a case report. ( 19094214 )
2008
9
Achondrogenesis type II with cutaneous hamartomata. ( 18541971 )
2008
10
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father. ( 17994563 )
2007
11
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. ( 17638425 )
2007
12
Achondrogenesis. ( 17638434 )
2007
13
Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis. ( 17128855 )
2006
14
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). ( 15574381 )
2005
15
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. ( 15054848 )
2004
16
Achondrogenesis type II with normally developed extremities: a case report. ( 12124695 )
2002
17
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. ( 11570921 )
2001
18
[Achondrogenesis type II-hypochondrogenesis: radiological features.Case report]. ( 11730591 )
2001
19
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. ( 11727031 )
2001
20
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. ( 10797431 )
2000
21
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. ( 11069003 )
2000
22
A case of achondrogenesis type II associated with huge cystic hygroma: prenatal diagnosis by ultrasonography. ( 10586482 )
1999
23
Prenatal sonographic diagnosis of type I achondrogenesis with a large cystic hygroma. ( 10201092 )
1999
24
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. ( 9637425 )
1998
25
Achondrogenesis type IA with an occipital encephalocele. ( 9101279 )
1997
26
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. ( 8702490 )
1996
27
A case of achondrogenesis type IA with an occipital encephalocele. ( 8897040 )
1996
28
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ( 8528239 )
1996
29
Achondrogenesis type 1B. ( 8950678 )
1996
30
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
31
Achondrogenesis type II with polydactyly. ( 8588578 )
1995
32
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
33
Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships. ( 7741714 )
1995
34
Achondrogenesis type II (Langer-Saldino)--a case report. ( 8798967 )
1995
35
Prenatal diagnosis of Langer-Saldino achondrogenesis. ( 7699096 )
1995
36
Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks' gestation. ( 7503212 )
1995
37
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. ( 7977372 )
1994
38
The boneless neonate: a severe form of achondrogenesis type I. ( 7824361 )
1994
39
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. ( 8160740 )
1994
40
Achondrogenesis Type 1B ( 20301689 )
1993
41
Achondrogenesis type II (Langer-Saldino). ( 8375887 )
1993
42
Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation. ( 8372079 )
1993
43
Collagen type II in Langer-Saldino achondrogenesis: absence of major abnormalities in a less severe case. ( 1515761 )
1992
44
Transvaginal ultrasound recognition of nuchal edema in the first-trimester diagnosis of achondrogenesis. ( 1663133 )
1991
45
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. ( 2074231 )
1990
46
Prenatal diagnosis of achondrogenesis. ( 2193886 )
1990
47
Antenatal diagnosis of Parenti-Fraccaro type achondrogenesis. ( 2276781 )
1990
48
Achondrogenesis type II (Langer-Saldino) in association with jugular lymphatic obstruction sequence. ( 2671977 )
1989
49
The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis. ( 2714779 )
1989
50
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. ( 3275766 )
1988

Variations for Achondrogenesis

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.13 COL2A1 COL9A2
2 10.24 DYNC2H1 TRIP11

GO Terms for Achondrogenesis

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

# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 8.62 COL2A1 COL9A2

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.32 COL2A1 COL9A2
2 ossification GO:0001503 9.26 COL2A1 SLC26A2
3 Golgi organization GO:0007030 9.16 DYNC2H1 TRIP11
4 bone development GO:0060348 8.96 COL2A1 TRIP11
5 intraciliary transport involved in cilium assembly GO:0035735 8.62 DYNC2H1 TRIP11

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 8.62 COL2A1 COL9A2

Sources for Achondrogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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