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:00053908.1SLC26A2, COMP, COL2A1, TRIP11, CD36, SEMA3A
3MP:00053787.1SEMA3A, COMP, SLC26A2, SLC26A5, CD36, TRIP11

Publications for Achondrogenesis

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50PubMed
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Articles related to Achondrogenesis:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
The phenotype range of achondrogenesis 1A. (23956106)
2013
2
Antenatal diagnosis of achondrogenesis type II. (20387359)
2009
3
Prenatal diagnosis of achondrogenesis type I: a case report. (19094214)
2008
4
Achondrogenesis type II with cutaneous hamartomata. (18541971)
2008
5
Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis. (17128855)
2006
6
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. (15054848)
2004
7
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. (11570921)
2001
8
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. (10797431)
2000
9
Achondrogenesis type IA with an occipital encephalocele. (9101279)
1997
10
A case of achondrogenesis type IA with an occipital encephalocele. (8897040)
1996
11
Achondrogenesis type 1B. (8950678)
1996
12
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. (8528239)
1996
13
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
14
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
15
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
16
Achondrogenesis type II with polydactyly. (8588578)
1995
17
Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks' gestation. (7503212)
1995
18
Prenatal diagnosis of Langer-Saldino achondrogenesis. (7699096)
1995
19
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. (7977372)
1994
20
Transvaginal ultrasound recognition of nuchal edema in the first-trimester diagnosis of achondrogenesis. (1663133)
1991
21
Prenatal diagnosis of achondrogenesis. (2193886)
1990
22
The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis. (2714779)
1989
23
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. (3275766)
1988
24
Achondrogenesis: a case report. (3359998)
1988
25
Type II collagen deficiency in achondrogenesis (Langer-Saldino). (3222212)
1988
26
Achondrogenesis type II, abnormalities of extracellular matrix. (3309860)
1987
27
Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. (3717210)
1986
28
Pyknoachondrogenesis: an association of skeletal defects resembling achondrogenesis with generalized bone sclerosis. A new condition? (3791681)
1986
29
Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis. (3752081)
1986
30
In utero sonographic diagnosis of achondrogenesis. (3920282)
1985
31
Achondrogenesis type I: ultrasound diagnosis in utero. (6438165)
1984
32
Antenatal sonographic diagnosis of achondrogenesis. (6748153)
1984
33
Case report 122: lethal short-limbed dwarfism: achondrogenesis type 2 (Fraccaro-Langer-Saldino). (6970987)
1980
34
Normal lipid composition of fibroblasts from a case of type II achondrogenesis. (7439202)
1980
35
Lethal neonatal dwarfism: a case of achondrogenesis. (7254002)
1980
36
Prenatal diagnosis of achondrogenesis. (300166)
1977
37
Prenatal diagnosis of achondrogenesis. (894421)
1977
38
Achondrogenesis type I in three sibling fetuses. Scanning and transmission electron microscopic studies. (1247086)
1976
39
Achondrogenesis: a clinical and radiological report. (1021128)
1976
40
Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis. (186383)
1976
41
Nonlethal achondrogenesis (Grebe-Quelce-Salgado type) in two Puerto Rican sibships. (1185402)
1975
42
Achondrogenesis: report on a case, with particular reference to ultrastructure and histochemistry. (4278835)
1974
43
Two types of heritable lethal achondrogenesis. (4424980)
1974
44
Achondrogenesis in two sibs. (4477720)
1974
45
Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias. (4825916)
1974
46
Achondrogenesis: case report and review of the literature. (4633363)
1973
47
Achondrogenesis. (4710446)
1973
48
Family with probable achondrogenesis and lipid inclusions in fibroblasts. (4120916)
1973
49
Pseudo-achondrogenesis with fractures. (4568361)
1972
50
Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. (5582025)
1971

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