MCID: ACH011
MIFTS: 39

Achondrogenesis malady

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

Aliases & Classifications for Achondrogenesis

Aliases & Descriptions for Achondrogenesis:

Name: Achondrogenesis 12 50 25 56 14
Achondrogenesis Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
achondrogenesis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0080043
Orphanet 56 ORPHA932
ICD10 via Orphanet 34 Q77.0
UMLS via Orphanet 70 C0001079
ICD10 33 Q77.0

Summaries for Achondrogenesis

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, also known as achondrogenesis syndrome, is related to achondrogenesis ib and achondrogenesis, type ia, and has symptoms including macrocephaly, short neck and frontal bossing. 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 lung, and related phenotypes are craniofacial and limbs/digits/tail

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.

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.

Wikipedia : 71 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 Ib Achondrogenesis, Type Ia

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 achondrogenesis ib 33.9 COL2A1 SLC26A2
2 achondrogenesis, type ia 12.6
3 achondrogenesis, type ii or hypochondrogenesis 12.5
4 hypochondrogenesis 11.2
5 pyknoachondrogenesis 11.1
6 sed congenita 10.8
7 chondrodysplasia, grebe type 10.8
8 warm antibody hemolytic anemia 10.1 COL2A1 COL9A2
9 sp7-related osteogenesis imperfecta 10.1 COL2A1 SLC26A2
10 combined oxidative phosphorylation deficiency 2 10.1 COL2A1 SLC26A2
11 vitelliform macular dystrophy 10.1 COL9A2 SLC26A2
12 epiphyseal dysplasia, multiple, with myopia and deafness 10.1 COL2A1 DYNC2H1
13 neuropathy, distal hereditary motor, type iia 10.0 COL2A1 SLC26A2
14 immunodeficiency 30 10.0 COL9A2 SLC26A2
15 vulvovaginitis 10.0 COL2A1 SLC26A2
16 dwarfism 10.0
17 albright's hereditary osteodystrophy 10.0 COL2A1 DYNC2H1
18 charcot-marie-tooth disease type 5 10.0 COL2A1 COL9A2
19 slti salem syndrome 10.0 COL2A1 SLC26A2
20 coronary heart disease 4 9.9 COL2A1 SLC26A2 TRIP11
21 intermediate uveitis 9.9 COL2A1 COL9A2 SLC26A2
22 bone structure disease 9.9 COL2A1 COL9A2 SLC26A2
23 physical disorder 9.9 COL2A1 COL9A2
24 skeletal dysplasias 9.9
25 skeletal dysplasia 9.9
26 occipital encephalocele 9.9
27 diastrophic dysplasia 9.9
28 encephalocele 9.9
29 achondroplasia 9.7
30 polydactyly 9.7
31 acromesomelic dysplasia 9.2 COL2A1 COL9A2 DYNC2H1 FAM120A SLC26A2 TRIP11

Graphical network of the top 20 diseases related to Achondrogenesis:



Diseases related to Achondrogenesis

Symptoms & Phenotypes for Achondrogenesis

Human phenotypes related to Achondrogenesis:

56 32 (show all 24)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
2 short neck 56 32 Very frequent (99-80%) HP:0000470
3 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
4 inguinal hernia 56 32 Frequent (79-30%) HP:0000023
5 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
6 umbilical hernia 56 32 Frequent (79-30%) HP:0001537
7 short nose 56 32 Very frequent (99-80%) HP:0003196
8 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
9 long philtrum 56 32 Very frequent (99-80%) HP:0000343
10 micrognathia 56 32 Very frequent (99-80%) HP:0000347
11 narrow chest 56 32 Very frequent (99-80%) HP:0000774
12 micromelia 56 32 Very frequent (99-80%) HP:0002983
13 short thorax 56 32 Very frequent (99-80%) HP:0010306
14 hydrops fetalis 56 32 Very frequent (99-80%) HP:0001789
15 flat face 56 32 Very frequent (99-80%) HP:0012368
16 thickened nuchal skin fold 56 32 Very frequent (99-80%) HP:0000474
17 cystic hygroma 56 32 Occasional (29-5%) HP:0000476
18 polyhydramnios 56 32 Frequent (79-30%) HP:0001561
19 severe short stature 56 32 Very frequent (99-80%) HP:0003510
20 abnormality of bone mineral density 56 32 Very frequent (99-80%) HP:0004348
21 aplasia/hypoplasia of the lungs 56 32 Very frequent (99-80%) HP:0006703
22 abnormal enchondral ossification 56 32 Very frequent (99-80%) HP:0003336
23 malformation of the heart and great vessels 56 Occasional (29-5%)
24 abnormality of cardiovascular system morphology 32 HP:0030680

MGI Mouse Phenotypes related to Achondrogenesis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 DYNC2H1 SLC26A2 TRIP11 COL2A1
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:


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

Search NIH Clinical Center for Achondrogenesis

Genetic Tests for Achondrogenesis

Anatomical Context for Achondrogenesis

MalaCards organs/tissues related to Achondrogenesis:

39
Bone, Testes, Lung, Heart, Skin

Publications for Achondrogenesis

Articles related to Achondrogenesis:

(show top 50) (show all 97)
id Title Authors Year
1
Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: Case report and differential diagnostic approach. ( 24144387 )
2013
2
The phenotype range of achondrogenesis 1A. ( 23956106 )
2013
3
Achondrogenesis type 1A--from mouse to human. ( 20089978 )
2010
4
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. ( 20583175 )
2010
5
Cause of achondrogenesis type 1A. ( 20847198 )
2010
6
Antenatal diagnosis of achondrogenesis type II. ( 20387359 )
2009
7
Achondrogenesis type II with cutaneous hamartomata. ( 18541971 )
2008
8
Prenatal diagnosis of achondrogenesis type I: a case report. ( 19094214 )
2008
9
Achondrogenesis. ( 17638434 )
2007
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
Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis. ( 17128855 )
2006
13
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). ( 15574381 )
2005
14
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. ( 15054848 )
2004
15
Achondrogenesis type II with normally developed extremities: a case report. ( 12124695 )
2002
16
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. ( 11727031 )
2001
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
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. ( 10797431 )
2000
20
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. ( 11069003 )
2000
21
A case of achondrogenesis type II associated with huge cystic hygroma: prenatal diagnosis by ultrasonography. ( 10586482 )
1999
22
Prenatal sonographic diagnosis of type I achondrogenesis with a large cystic hygroma. ( 10201092 )
1999
23
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. ( 9637425 )
1998
24
Achondrogenesis type IA with an occipital encephalocele. ( 9101279 )
1997
25
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ( 8528239 )
1996
26
A case of achondrogenesis type IA with an occipital encephalocele. ( 8897040 )
1996
27
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
28
Achondrogenesis type 1B. ( 8950678 )
1996
29
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
30
Achondrogenesis type II with polydactyly. ( 8588578 )
1995
31
Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks' gestation. ( 7503212 )
1995
32
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
33
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
34
Prenatal diagnosis of Langer-Saldino achondrogenesis. ( 7699096 )
1995
35
Achondrogenesis type II (Langer-Saldino)--a case report. ( 8798967 )
1995
36
The boneless neonate: a severe form of achondrogenesis type I. ( 7824361 )
1994
37
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. ( 8160740 )
1994
38
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. ( 7977372 )
1994
39
Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation. ( 8372079 )
1993
40
Achondrogenesis Type 1B ( 20301689 )
1993
41
Achondrogenesis type II (Langer-Saldino). ( 8375887 )
1993
42
Collagen type II in Langer-Saldino achondrogenesis: absence of major abnormalities in a less severe case. ( 1515761 )
1992
43
Transvaginal ultrasound recognition of nuchal edema in the first-trimester diagnosis of achondrogenesis. ( 1663133 )
1991
44
Antenatal diagnosis of Parenti-Fraccaro type achondrogenesis. ( 2276781 )
1990
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
The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis. ( 2714779 )
1989
48
Achondrogenesis type II (Langer-Saldino) in association with jugular lymphatic obstruction sequence. ( 2671977 )
1989
49
Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases. ( 3072551 )
1988
50
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. ( 3195588 )
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:

id 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:

id 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:

id 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:

id 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
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....