MCID: ACH011
MIFTS: 39

Achondrogenesis malady

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

Aliases & Classifications for Achondrogenesis

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 29ICD10 via Orphanet, 67UMLS via Orphanet, 28ICD10
See all MalaCards sources

Aliases & Descriptions for Achondrogenesis:

Name: Achondrogenesis 11 46 24 13 52
 
Achondrogenesis Syndrome 24

Characteristics:

Orphanet epidemiological data:

52
achondrogenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:0080043
Orphanet52 ORPHA932
ICD10 via Orphanet29 Q77.0
UMLS via Orphanet67 C0001079
ICD1028 Q77.0

Summaries for Achondrogenesis

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NIH Rare Diseases:46 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 ia and achondrogenesis ib, and has symptoms including macrocephaly, malar flattening and long philtrum. An important gene associated with Achondrogenesis is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways are ECM-receptor interaction and Protein digestion and absorption. Affiliated tissues include bone, testes and skin, and related mouse phenotypes are craniofacial and skeleton.

Disease Ontology:11 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: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.

Wikipedia:69 Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia... more...

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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Symptoms:

 52 (show all 23)
  • inguinal hernia
  • macrocephaly
  • long philtrum
  • micrognathia
  • anteverted nares
  • short neck
  • thickened nuchal skin fold
  • cystic hygroma
  • narrow chest
  • umbilical hernia
  • polyhydramnios
  • hydrops fetalis
  • frontal bossing
  • malformation of the heart and great vessels
  • skeletal dysplasia
  • micromelia
  • short nose
  • abnormal enchondral ossification
  • severe short stature
  • abnormality of bone mineral density
  • aplasia/hypoplasia of the lungs
  • short thorax
  • flat face

HPO human phenotypes related to Achondrogenesis:

(show all 20)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 malar flattening hallmark (90%) HP:0000272
3 long philtrum hallmark (90%) HP:0000343
4 micrognathia hallmark (90%) HP:0000347
5 anteverted nares hallmark (90%) HP:0000463
6 short neck hallmark (90%) HP:0000470
7 thickened nuchal skin fold hallmark (90%) HP:0000474
8 narrow chest hallmark (90%) HP:0000774
9 hydrops fetalis hallmark (90%) HP:0001789
10 frontal bossing hallmark (90%) HP:0002007
11 skeletal dysplasia hallmark (90%) HP:0002652
12 micromelia hallmark (90%) HP:0002983
13 short nose hallmark (90%) HP:0003196
14 short stature hallmark (90%) HP:0004322
15 abnormality of bone mineral density hallmark (90%) HP:0004348
16 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
17 short thorax hallmark (90%) HP:0010306
18 umbilical hernia typical (50%) HP:0001537
19 polyhydramnios typical (50%) HP:0001561
20 cystic hygroma occasional (7.5%) HP:0000476

Drugs & Therapeutics for Achondrogenesis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754

Search NIH Clinical Center for Achondrogenesis

Genetic Tests for Achondrogenesis

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Anatomical Context for Achondrogenesis

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MalaCards organs/tissues related to Achondrogenesis:

34
Bone, Testes, Skin, Lung, Heart

Animal Models for Achondrogenesis or affiliated genes

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MGI Mouse Phenotypes related to Achondrogenesis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6COL2A1, DYNC2H1, SLC26A2, TRIP11
2MP:00053907.9COL2A1, COL9A2, DYNC2H1, SLC26A2, TRIP11
3MP:00053717.6COL2A1, COL9A2, DYNC2H1, SLC26A2, TRIP11

Publications for Achondrogenesis

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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
Achondrogenesis type 1A--from mouse to human. (20089978)
2010
3
Antenatal diagnosis of achondrogenesis type II. (20387359)
2009
4
Achondrogenesis. (17638434)
2007
5
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. (17638425)
2007
6
Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis. (17128855)
2006
7
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). (15574381)
2005
8
Achondrogenesis type II with normally developed extremities: a case report. (12124695)
2002
9
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. (11727031)
2001
10
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. (11069003)
2000
11
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. (9637425)
1998
12
Achondrogenesis type IA with an occipital encephalocele. (9101279)
1997
13
Achondrogenesis type 1B. (8950678)
1996
14
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. (8528239)
1996
15
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
16
Achondrogenesis type II (Langer-Saldino)--a case report. (8798967)
1995
17
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
18
Achondrogenesis type II with polydactyly. (8588578)
1995
19
Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks' gestation. (7503212)
1995
20
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. (8160740)
1994
21
Collagen type II in Langer-Saldino achondrogenesis: absence of major abnormalities in a less severe case. (1515761)
1992
22
Transvaginal ultrasound recognition of nuchal edema in the first-trimester diagnosis of achondrogenesis. (1663133)
1991
23
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. (2074231)
1990
24
Antenatal diagnosis of Parenti-Fraccaro type achondrogenesis. (2276781)
1990
25
Prenatal diagnosis of achondrogenesis. (2193886)
1990
26
Achondrogenesis type II (Langer-Saldino) in association with jugular lymphatic obstruction sequence. (2671977)
1989
27
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. (3057886)
1988
28
Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases. (3072551)
1988
29
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. (3275766)
1988
30
Achondrogenesis type II, abnormalities of extracellular matrix. (3309860)
1987
31
Bovine achondrogenesis: evidence for defective chondrocyte differentiation. (3606909)
1987
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
Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis. (3752081)
1986
35
Midtrimester prenatal diagnosis of achondrogenesis. (6726882)
1984
36
Antenatal sonographic diagnosis of achondrogenesis. (6748153)
1984
37
A case of achondrogenesis type I. (6469245)
1984
38
Achondrogenesis: new nosology with evidence of genetic heterogeneity. (6878687)
1983
39
In utero diagnosis of achondrogenesis, type I. (7460382)
1981
40
Achondrogenesis type II in twins. (7192589)
1981
41
Case report 122: lethal short-limbed dwarfism: achondrogenesis type 2 (Fraccaro-Langer-Saldino). (6970987)
1980
42
Achondrogenesis type I: light and electron-microscopic studies. (6250850)
1980
43
Achondrogenesis. (721399)
1978
44
Achondrogenesis, type I. (144655)
1977
45
Prenatal diagnosis of achondrogenesis. (894421)
1977
46
Nonlethal achondrogenesis (Grebe-Quelce-Salgado type) in two Puerto Rican sibships. (1185402)
1975
47
Achondrogenesis: report on a case, with particular reference to ultrastructure and histochemistry. (4278835)
1974
48
Achondrogenesis. (4710446)
1973
49
Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. (5582025)
1971
50
Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. (4885523)
1969

Variations for Achondrogenesis

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Expression for genes affiliated with Achondrogenesis

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Search GEO for disease gene expression data for Achondrogenesis.

Pathways for genes affiliated with Achondrogenesis

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Pathways related to Achondrogenesis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5COL2A1, COL9A2
29.5COL2A1, COL9A2
39.3DYNC2H1, TRIP11

GO Terms for genes affiliated with Achondrogenesis

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

idNameGO IDScoreTop Affiliating Genes
1bone developmentGO:00603489.9COL2A1, TRIP11
2ossificationGO:00015039.6COL2A1, SLC26A2
3Golgi organizationGO:00070309.3DYNC2H1, TRIP11
4skeletal system developmentGO:00015019.2COL2A1, COL9A2

Molecular functions related to Achondrogenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituent conferring tensile strengthGO:00300209.5COL2A1, COL9A2

Sources for Achondrogenesis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet