MCID: ACH011
MIFTS: 38

Achondrogenesis malady

Summaries for Achondrogenesis

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 32MalaCards
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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: Achondrogenesis, also known as achondrogenesis syndrome, is related to achondrogenesis type ii and dwarfism. An important gene associated with Achondrogenesis is COL2A1 (collagen, type II, alpha 1), and among its related pathways are Multifunctional anion exchangers and Cytosolic sulfonation of small molecules. The compounds procollagen and pentosidine have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related mouse phenotypes are limbs/digits/tail and skeleton.

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

Aliases & Classifications for Achondrogenesis

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 25ICD10
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Related Diseases for Achondrogenesis

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17GeneCards, 18GeneDecks
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Diseases in the Achondrogenesis Type Ib family:

Achondrogenesis Type Ii Achondrogenesis Type Ia
achondrogenesis

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

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1achondrogenesis type ii31.2COL2A1, CD36
2dwarfism30.3COMP, COL2A1
3achondroplasia30.1COL2A1, COMP
4diastrophic dysplasia30.1SLC26A2, SLC26A5, COL2A1, COMP
5achondrogenesis type ib10.7
6achondrogenesis type ia10.6
7hypochondrogenesis10.4
8achondrogenesis, type ii or hypochondrogenesis10.4
9acromesomelic dysplasia, grebe type10.1
10metaphyseal dysplasia10.0COL2A1
11cleft palate10.0COL2A1
12spondyloepimetaphyseal dysplasia, sponastrime type10.0SEMA3A
13collagen disease10.0CD36, COL2A1
14relapsing polychondritis10.0COL2A1, COMP
15multiple epiphyseal dysplasia10.0COMP, SLC26A2
16otosclerosis10.0SLC26A2, CD36
17connective tissue disease10.0COL2A1, CD36
18osteochondrodysplasia10.0SLC26A2, COMP
19spondyloepimetaphyseal dysplasia10.0SEMA3A, COMP
20clubfoot10.0SLC26A2
21ehlers-danlos syndrome10.0CD36, COL2A1
22osteoporosis10.0SLC26A2, CD36, COL2A1
23chondrosarcoma10.0CD36, COMP
24osteogenesis imperfecta10.0CD36, COL2A1
25atelosteogenesis10.0SLC26A2, SLC26A5
26skeletal dysplasias10.0SLC26A2, COMP, COL2A1
27rheumatic disease10.0COL2A1, COMP
28short stature10.0COL2A1, COMP, CD36
29pseudoachondroplasia10.0COMP, SLC26A2, CD36
30pendred syndrome10.0SLC26A5, SLC26A2
31osteoarthritis10.0COL2A1, COMP, CD36
32hypertrophy of breast10.0COL2A1, CD36, COMP
33spondyloepiphyseal dysplasia congenita9.9
34polydactyly9.9
35x-linked spondyloepiphyseal dysplasia tarda9.9
36pyknoachondrogenesis9.9

Graphical network of the top 20 diseases related to Achondrogenesis:



Diseases related to achondrogenesis

Clinical Features for Achondrogenesis

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Drugs & Therapeutics for Achondrogenesis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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32MalaCards
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MalaCards organs/tissues related to Achondrogenesis:

32
Bone, Testes

Animal Models for Achondrogenesis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Achondrogenesis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0SLC26A2, TRIP11, COL2A1, COMP
2MP:00053908.1SEMA3A, SLC26A2, CD36, TRIP11, COL2A1, COMP
3MP:00053787.1COMP, COL2A1, TRIP11, CD36, SLC26A5, SLC26A2

Publications for Achondrogenesis

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50PubMed
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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
Achondrogenesis type 1A--from mouse to human. (20089978)
2010
3
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. (20583175)
2010
4
Cause of achondrogenesis type 1A. (20847198)
2010
5
Prenatal diagnosis of achondrogenesis type I: a case report. (19094214)
2008
6
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father. (17994563)
2007
7
Achondrogenesis. (17638434)
2007
8
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. (17638425)
2007
9
Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis. (17128855)
2006
10
Achondrogenesis type II with normally developed extremities: a case report. (12124695)
2002
11
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. (11727031)
2001
12
Achondrogenesis type II-hypochondrogenesis: radiological features.Case report]. (11730591)
2001
13
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. (11069003)
2000
14
A case of achondrogenesis type II associated with huge cystic hygroma: prenatal diagnosis by ultrasonography. (10586482)
1999
15
Prenatal sonographic diagnosis of type I achondrogenesis with a large cystic hygroma. (10201092)
1999
16
Achondrogenesis type 1B. (8950678)
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
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
20
Prenatal diagnosis of Langer-Saldino achondrogenesis. (7699096)
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
Achondrogenesis type II (Langer-Saldino). (8375887)
1993
24
Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation. (8372079)
1993
25
Collagen type II in Langer-Saldino achondrogenesis: absence of major abnormalities in a less severe case. (1515761)
1992
26
Prenatal diagnosis of achondrogenesis. (2193886)
1990
27
Antenatal diagnosis of Parenti-Fraccaro type achondrogenesis. (2276781)
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-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases. (3072551)
1988
33
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. (3195588)
1988
34
Bovine achondrogenesis: evidence for defective chondrocyte differentiation. (3606909)
1987
35
A new type of achondrogenesis. (3748652)
1986
36
Achondrogenesis-I. (3835151)
1985
37
Midtrimester prenatal diagnosis of achondrogenesis. (6726882)
1984
38
Early second trimester sonographic diagnosis of achondrogenesis. (6413546)
1983
39
Achondrogenesis: new nosology with evidence of genetic heterogeneity. (6878687)
1983
40
In utero diagnosis of achondrogenesis, type I. (7460382)
1981
41
Achondrogenesis type II in twins. (7192589)
1981
42
Achondrogenesis. (721399)
1978
43
Achondrogenesis, type I. (144655)
1977
44
Achondrogenesis type I. (849009)
1977
45
Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis. (186383)
1976
46
Letter: Proposed readjustment of eponyms for achondrogenesis. (1151580)
1975
47
Achondrogenesis: report on a case, with particular reference to ultrastructure and histochemistry. (4278835)
1974
48
Achondrogenesis in two sibs. (4477720)
1974
49
Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias. (4825916)
1974
50
Pseudo-achondrogenesis with fractures. (4568361)
1972

Genetic Variations for Achondrogenesis

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Expression for genes affiliated with Achondrogenesis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome, 29KEGG, 52R&D Systems
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Compounds for genes affiliated with Achondrogenesis

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44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Achondrogenesis according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1procollagen4410.4COL2A1
2pentosidine449.8COMP, COL2A1
3keratan sulfate449.7CD36, COMP
4deoxypyridinoline449.6COMP, CD36
5pyridinoline449.6CD36, COL2A1, COMP
6alginate449.5CD36, COL2A1, COMP
7hydroxyproline44 11 2411.5COL2A1, CD36
8dermatan sulfate449.5CD36, COMP
9glycosaminoglycan449.5CD36, COL2A1, COMP
10vitamin d449.3CD36, COL2A1, COMP
11oxalate449.2SLC26A5, SLC26A1, SLC26A2
12iodide44 2410.1SLC26A5, SLC26A1, SLC26A2
13formate449.1SLC26A2, SLC26A1, SLC26A5
14bicarbonate449.1SLC26A5, SLC26A1, SLC26A2
15chloride449.0SLC26A2, SLC26A1, SLC26A5
16cysteine448.9SLC26A2, CD36, COL2A1, COMP
17sulfate44 249.3SLC26A2, SLC26A1, SLC26A5, COL2A1, COMP

GO Terms for genes affiliated with Achondrogenesis

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16Gene Ontology
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Cellular components related to Achondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:0160209.0SEMA3A, SLC26A2, CD36, TRIP11

Biological processes related to Achondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
13-phosphoadenosine 5-phosphosulfate metabolic processGO:0504279.7SLC26A2, SLC26A1
23-phosphoadenosine 5-phosphosulfate biosynthetic processGO:0504289.4SLC26A2, SLC26A1
3sulfate transportGO:0082728.8SLC26A2, SLC26A1, SLC26A5

Molecular functions related to Achondrogenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sulfate transmembrane transporter activityGO:0151169.7SLC26A2, SLC26A1
2secondary active sulfate transmembrane transporter activityGO:0082718.6SLC26A2, SLC26A1, SLC26A5

Products for genes affiliated with Achondrogenesis

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet