MCID: ACH011
MIFTS: 42

Achondrogenesis malady

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

Aliases & Classifications for Achondrogenesis

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10
See all MalaCards sources

Aliases & Descriptions for Achondrogenesis:

Name: Achondrogenesis 10 45 23 12 51
 
Achondrogenesis Syndrome 23

Characteristics:

Orphanet epidemiological data:

51
achondrogenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0080043
Orphanet51 932
ICD10 via Orphanet28 Q77.0
UMLS via Orphanet66 C0001079
ICD1027 Q77.0

Summaries for Achondrogenesis

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NIH Rare Diseases:45 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 hypochondrogenesis and achondrogenesis, type ia, and has symptoms including macrocephaly, malar flattening and long philtrum. An important gene associated with Achondrogenesis is COL2A1 (Collagen Type II Alpha 1), and among its related pathways are ECM-receptor interaction and Protein digestion and absorption. Affiliated tissues include bone, testes and lung, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Disease Ontology:10 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:23 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:68 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:

 51 (show all 23)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • frontal bossing/prominent forehead
  • flat face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • short/small nose
  • anteverted nares/nostrils
  • long philtrum
  • short neck
  • excess nuchal skin without pterygium colli
  • narrow rib cage/thorax
  • short rib cage/thorax
  • short limbs/micromelia/brachymelia
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • abnormal/absent ossification
  • short stature/dwarfism/nanism
  • early death/lethality
  • hydrops fetalis
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • polyhydramnios
  • cystic hygroma
  • congenital cardiac anomaly/malformation/cardiopathy

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:

33
Bone, Testes, Lung, Skin, Monocytes, T cells, Endothelial

Animal Models for Achondrogenesis or affiliated genes

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MGI Mouse Phenotypes related to Achondrogenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2COL2A1, DYNC2H1, SLC26A2, TRIP11
2MP:00053718.1COL2A1, COL9A2, DYNC2H1, SLC26A2, TRIP11
3MP:00053907.9COL2A1, COL9A2, DYNC2H1, SLC26A2, TRIP11

Publications for Achondrogenesis

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Articles related to Achondrogenesis:

(show top 50)    (show all 98)
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
Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis. (17128855)
2006
8
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). (15574381)
2005
9
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. (15054848)
2004
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
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. (10797431)
2000
13
A case of achondrogenesis type IA with an occipital encephalocele. (8897040)
1996
14
Achondrogenesis type 1B. (8950678)
1996
15
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. (8528239)
1996
16
Achondrogenesis type II (Langer-Saldino)--a case report. (8798967)
1995
17
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
18
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
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
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. (8160740)
1994
21
The boneless neonate: a severe form of achondrogenesis type I. (7824361)
1994
22
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. (7977372)
1994
23
Achondrogenesis Type 1B (20301689)
1993
24
Achondrogenesis type II (Langer-Saldino). (8375887)
1993
25
Prenatal diagnosis of achondrogenesis. (2193886)
1990
26
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. (2074231)
1990
27
Achondrogenesis type II (Langer-Saldino) in association with jugular lymphatic obstruction sequence. (2671977)
1989
28
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. (3057886)
1988
29
Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. (3275766)
1988
30
Achondrogenesis type II. (3222064)
1988
31
Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. (3717210)
1986
32
Pyknoachondrogenesis: an association of skeletal defects resembling achondrogenesis with generalized bone sclerosis. A new condition? (3791681)
1986
33
A new type of achondrogenesis. (3748652)
1986
34
Midtrimester prenatal diagnosis of achondrogenesis. (6726882)
1984
35
Early second trimester sonographic diagnosis of achondrogenesis. (6413546)
1983
36
In utero diagnosis of achondrogenesis, type I. (7460382)
1981
37
Case report 122: lethal short-limbed dwarfism: achondrogenesis type 2 (Fraccaro-Langer-Saldino). (6970987)
1980
38
Normal lipid composition of fibroblasts from a case of type II achondrogenesis. (7439202)
1980
39
Prenatal diagnosis of achondrogenesis. (300166)
1977
40
Achondrogenesis, type I. (144655)
1977
41
Achondrogenesis type I. (849009)
1977
42
Prenatal diagnosis of achondrogenesis. (894421)
1977
43
Achondrogenesis type I in three sibling fetuses. Scanning and transmission electron microscopic studies. (1247086)
1976
44
Achondrogenesis: report on a case, with particular reference to ultrastructure and histochemistry. (4278835)
1974
45
Two types of heritable lethal achondrogenesis. (4424980)
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
Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. (5582025)
1971
50

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
1ossificationGO:00015039.8COL2A1, SLC26A2
2skeletal system developmentGO:00015019.7COL2A1, COL9A2
3extracellular matrix disassemblyGO:00226179.5COL2A1, COL9A2

Sources for Achondrogenesis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet