MCID: ACH011
MIFTS: 38

Achondrogenesis malady

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

Aliases & Classifications for Achondrogenesis

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Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 30ICD10, 31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Achondrogenesis:

Name: Achondrogenesis 11 48 25 54 13
 
Achondrogenesis Syndrome 25

Characteristics:

Orphanet epidemiological data:

54
achondrogenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:0080043
Orphanet54 ORPHA932
ICD10 via Orphanet31 Q77.0
UMLS via Orphanet69 C0001079
ICD1030 Q77.0

Summaries for Achondrogenesis

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NIH Rare Diseases:48 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, skin and heart, and related mouse phenotypes are craniofacial and limbs/digits/tail.

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:25 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:71 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 & Phenotypes for Achondrogenesis

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Human phenotypes related to Achondrogenesis:

 64 54 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000256
2 malar flattening64 hallmark (90%) HP:0000272
3 long philtrum64 54 hallmark (90%) Very frequent (99-80%) HP:0000343
4 micrognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000347
5 anteverted nares64 54 hallmark (90%) Very frequent (99-80%) HP:0000463
6 short neck64 54 hallmark (90%) Very frequent (99-80%) HP:0000470
7 thickened nuchal skin fold64 54 hallmark (90%) Very frequent (99-80%) HP:0000474
8 narrow chest64 54 hallmark (90%) Very frequent (99-80%) HP:0000774
9 hydrops fetalis64 54 hallmark (90%) Very frequent (99-80%) HP:0001789
10 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
11 skeletal dysplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0002652
12 micromelia64 54 hallmark (90%) Very frequent (99-80%) HP:0002983
13 short nose64 54 hallmark (90%) Very frequent (99-80%) HP:0003196
14 short stature64 hallmark (90%) HP:0004322
15 abnormality of bone mineral density64 54 hallmark (90%) Very frequent (99-80%) HP:0004348
16 aplasia/hypoplasia of the lungs64 54 hallmark (90%) Very frequent (99-80%) HP:0006703
17 short thorax64 54 hallmark (90%) Very frequent (99-80%) HP:0010306
18 umbilical hernia64 54 typical (50%) Frequent (79-30%) HP:0001537
19 polyhydramnios64 54 typical (50%) Frequent (79-30%) HP:0001561
20 cystic hygroma64 54 occasional (7.5%) Occasional (29-5%) HP:0000476
21 inguinal hernia54 Frequent (79-30%)
22 malformation of the heart and great vessels54 Occasional (29-5%)
23 abnormal enchondral ossification54 Very frequent (99-80%)
24 severe short stature54 Very frequent (99-80%)
25 flat face54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Achondrogenesis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2COL2A1, DYNC2H1, SLC26A2, TRIP11
2MP:00053718.7COL2A1, COL9A2, DYNC2H1, SLC26A2, TRIP11
3MP:00053907.9COL2A1, COL9A2, DYNC2H1, SLC26A2, TRIP11

Drugs & Therapeutics for Achondrogenesis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754

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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:

36
Bone, Skin, Heart, Lung

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
Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: Case report and differential diagnostic approach. (24144387)
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
Prenatal diagnosis of achondrogenesis type I: a case report. (19094214)
2008
8
Achondrogenesis type II with cutaneous hamartomata. (18541971)
2008
9
Achondrogenesis. (17638434)
2007
10
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. (17638425)
2007
11
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father. (17994563)
2007
12
Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis. (17128855)
2006
13
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). (15574381)
2005
14
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. (15054848)
2004
15
Achondrogenesis type II with normally developed extremities: a case report. (12124695)
2002
16
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. (11727031)
2001
17
Achondrogenesis type II-hypochondrogenesis: radiological features.Case report]. (11730591)
2001
18
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. (11570921)
2001
19
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. (11069003)
2000
20
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. (10797431)
2000
21
A case of achondrogenesis type II associated with huge cystic hygroma: prenatal diagnosis by ultrasonography. (10586482)
1999
22
Prenatal sonographic diagnosis of type I achondrogenesis with a large cystic hygroma. (10201092)
1999
23
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. (9637425)
1998
24
Achondrogenesis type IA with an occipital encephalocele. (9101279)
1997
25
Achondrogenesis type 1B. (8950678)
1996
26
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. (8528239)
1996
27
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
28
A case of achondrogenesis type IA with an occipital encephalocele. (8897040)
1996
29
Achondrogenesis type II (Langer-Saldino)--a case report. (8798967)
1995
30
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
31
Achondrogenesis type II with polydactyly. (8588578)
1995
32
Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks' gestation. (7503212)
1995
33
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
34
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
35
Prenatal diagnosis of Langer-Saldino achondrogenesis. (7699096)
1995
36
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. (8160740)
1994
37
The boneless neonate: a severe form of achondrogenesis type I. (7824361)
1994
38
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. (7977372)
1994
39
Achondrogenesis Type 1B (20301689)
1993
40
Achondrogenesis type II (Langer-Saldino). (8375887)
1993
41
Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation. (8372079)
1993
42
Collagen type II in Langer-Saldino achondrogenesis: absence of major abnormalities in a less severe case. (1515761)
1992
43
Transvaginal ultrasound recognition of nuchal edema in the first-trimester diagnosis of achondrogenesis. (1663133)
1991
44
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. (2074231)
1990
45
Antenatal diagnosis of Parenti-Fraccaro type achondrogenesis. (2276781)
1990
46
Prenatal diagnosis of achondrogenesis. (2193886)
1990
47
Achondrogenesis type II (Langer-Saldino) in association with jugular lymphatic obstruction sequence. (2671977)
1989
48
The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis. (2714779)
1989
49
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. (3057886)
1988
50
Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases. (3072551)
1988

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:000150310.2COL2A1, SLC26A2
2bone developmentGO:006034810.2COL2A1, TRIP11
3Golgi organizationGO:00070309.9DYNC2H1, TRIP11
4skeletal system developmentGO:00015019.5COL2A1, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet