MCID: ACH011
MIFTS: 43

Achondrogenesis malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Achondrogenesis

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NIH Rare Diseases:42 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 diastrophic dysplasia. An important gene associated with Achondrogenesis is COL2A1 (collagen, type II, alpha 1). The compounds oxalate and pyridinoline have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:8 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:21 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. Some infants, however, have lived for a short time with intensive medical support.

Wikipedia:65 Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia... more...

Aliases & Classifications for Achondrogenesis

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Related Diseases for Achondrogenesis

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Graphical network of the top 20 diseases related to Achondrogenesis:



Diseases related to achondrogenesis

Symptoms for Achondrogenesis

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Drugs & Therapeutics for Achondrogenesis

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Drug clinical trials:

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Genetic Tests for Achondrogenesis

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Anatomical Context for Achondrogenesis

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MalaCards organs/tissues related to Achondrogenesis:

32
Bone, Testes

Animal Models for Achondrogenesis or affiliated genes

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MGI Mouse Phenotypes related to Achondrogenesis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0COL2A1, SLC26A2, TRIP11
2MP:00053828.8COL2A1, SLC26A2, TRIP11
3MP:00053908.5TRIP11, COL2A1, CD36, SLC26A2
4MP:00036318.5TRIP11, SLC26A5, CD36, COL2A1
5MP:00053788.0SLC26A2, COL2A1, CD36, TRIP11, SLC26A5

Publications for Achondrogenesis

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Articles related to Achondrogenesis:

(show top 50)    (show all 97)
idTitleAuthorsYear
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
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father. (17994563)
2007
8
Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis. (17128855)
2006
9
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). (15574381)
2005
10
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. (15054848)
2004
11
Achondrogenesis type II with normally developed extremities: a case report. (12124695)
2002
12
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. (11727031)
2001
13
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. (10797431)
2000
14
A case of achondrogenesis type IA with an occipital encephalocele. (8897040)
1996
15
Achondrogenesis type 1B. (8950678)
1996
16
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. (8528239)
1996
17
Achondrogenesis type II (Langer-Saldino)--a case report. (8798967)
1995
18
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
19
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
20
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
21
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. (8160740)
1994
22
The boneless neonate: a severe form of achondrogenesis type I. (7824361)
1994
23
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. (7977372)
1994
24
Achondrogenesis Type 1B (20301689)
1993
25
Achondrogenesis type II (Langer-Saldino). (8375887)
1993
26
Prenatal diagnosis of achondrogenesis. (2193886)
1990
27
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. (2074231)
1990
28
Achondrogenesis type II (Langer-Saldino) in association with jugular lymphatic obstruction sequence. (2671977)
1989
29
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. (3057886)
1988
30
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. (3275766)
1988
31
Achondrogenesis type II. (3222064)
1988
32
Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. (3717210)
1986
33
Pyknoachondrogenesis: an association of skeletal defects resembling achondrogenesis with generalized bone sclerosis. A new condition? (3791681)
1986
34
A new type of achondrogenesis. (3748652)
1986
35
Midtrimester prenatal diagnosis of achondrogenesis. (6726882)
1984
36
Early second trimester sonographic diagnosis of achondrogenesis. (6413546)
1983
37
In utero diagnosis of achondrogenesis, type I. (7460382)
1981
38
Case report 122: lethal short-limbed dwarfism: achondrogenesis type 2 (Fraccaro-Langer-Saldino). (6970987)
1980
39
Normal lipid composition of fibroblasts from a case of type II achondrogenesis. (7439202)
1980
40
Prenatal diagnosis of achondrogenesis. (300166)
1977
41
Achondrogenesis, type I. (144655)
1977
42
Achondrogenesis type I. (849009)
1977
43
Prenatal diagnosis of achondrogenesis. (894421)
1977
44
Achondrogenesis type I in three sibling fetuses. Scanning and transmission electron microscopic studies. (1247086)
1976
45
Achondrogenesis: report on a case, with particular reference to ultrastructure and histochemistry. (4278835)
1974
46
Two types of heritable lethal achondrogenesis. (4424980)
1974
47
Achondrogenesis: case report and review of the literature. (4633363)
1973
48
Achondrogenesis. (4710446)
1973
49
Family with probable achondrogenesis and lipid inclusions in fibroblasts. (4120916)
1973
50
Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. (5582025)
1971

Variations for Achondrogenesis

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Expression for genes affiliated with Achondrogenesis

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Expression patterns in normal tissues for genes affiliated with Achondrogenesis

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Pathways for genes affiliated with Achondrogenesis

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Compounds for genes affiliated with Achondrogenesis

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 28IUPHAR
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Compounds related to Achondrogenesis according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1oxalate449.7SLC26A5, SLC26A2
2pyridinoline449.7CD36, COL2A1
3iodide44 2410.7SLC26A2, SLC26A5
4formate449.6SLC26A5, SLC26A2
5alginate449.6CD36, COL2A1
6hydroxyproline44 24 1111.6COL2A1, CD36
7bicarbonate449.5SLC26A5, SLC26A2
8procollagen449.5CD36, COL2A1
9chloride449.4SLC26A5, SLC26A2
10glycosaminoglycan449.3CD36, COL2A1
11sulfate44 2410.3SLC26A5, SLC26A2, COL2A1
12dexamethasone44 50 28 1111.9COL2A1, CD36, SLC26A2
13cysteine448.6SLC26A2, CD36, COL2A1

GO Terms for genes affiliated with Achondrogenesis

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Cellular components related to Achondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:0160208.9TRIP11, SLC26A2, CD36

Biological processes related to Achondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:0076059.5SLC26A5, COL2A1

Molecular functions related to Achondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secondary active sulfate transmembrane transporter activityGO:0082719.4SLC26A5, SLC26A2

Products for genes affiliated with Achondrogenesis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Achondrogenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet