MCID: ACH011
MIFTS: 44

Achondrogenesis malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Achondrogenesis

About this section


NIH Rare Diseases:41 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 ii or hypochondrogenesis and diastrophic dysplasia, and has symptoms including macrocephaly, malar flattening and long philtrum. An important gene associated with Achondrogenesis is COL2A1 (collagen, type II, alpha 1). The compounds oxalate and pyridinoline have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and lung, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:9 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. However, some infants 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

About this section
Sources:
9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Achondrogenesis, Aliases & Descriptions:

Name: Achondrogenesis 9 41 21 11 47
 
Achondrogenesis Syndrome 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

47
achondrogenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal


External Ids:

Disease Ontology9 DOID:0080043
Orphanet47 932
ICD10 via Orphanet26 Q77.0
UMLS via Orphanet61 C0001079
ICD1025 Q77.0

Related Diseases for Achondrogenesis

About this section

Graphical network of the top 20 diseases related to Achondrogenesis:



Diseases related to achondrogenesis

Symptoms for Achondrogenesis

About this section

Symptoms:

 47 (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 21)
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
21 malformation of the heart and great vessels occasional (7.5%) HP:0002564

Drugs & Therapeutics for Achondrogenesis

About this section

Drug clinical trials:

Search ClinicalTrials for Achondrogenesis

Search NIH Clinical Center for Achondrogenesis

Genetic Tests for Achondrogenesis

About this section

Anatomical Context for Achondrogenesis

About this section

MalaCards organs/tissues related to Achondrogenesis:

31
Bone, Testes, Lung, Skin, Heart

Animal Models for Achondrogenesis or affiliated genes

About this section

MGI Mouse Phenotypes related to Achondrogenesis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0COL2A1, SLC26A2, TRIP11
2MP:00053828.8TRIP11, SLC26A2, COL2A1
3MP:00053908.5COL2A1, CD36, SLC26A2, TRIP11
4MP:00036318.5TRIP11, SLC26A5, CD36, COL2A1
5MP:00053788.0TRIP11, SLC26A5, SLC26A2, CD36, COL2A1

Publications for Achondrogenesis

About this section

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
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
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father. (17994563)
2007
8
Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis. (17128855)
2006
9
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). (15574381)
2005
10
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. (15054848)
2004
11
Achondrogenesis type II with normally developed extremities: a case report. (12124695)
2002
12
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. (11727031)
2001
13
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. (10797431)
2000
14
A case of achondrogenesis type IA with an occipital encephalocele. (8897040)
1996
15
Achondrogenesis type 1B. (8950678)
1996
16
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. (8528239)
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
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
20
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
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
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. (7977372)
1994
24
Achondrogenesis Type 1B (20301689)
1993
25
Achondrogenesis type II (Langer-Saldino). (8375887)
1993
26
Prenatal diagnosis of achondrogenesis. (2193886)
1990
27
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. (2074231)
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 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
A new type of achondrogenesis. (3748652)
1986
35
Midtrimester prenatal diagnosis of achondrogenesis. (6726882)
1984
36
Early second trimester sonographic diagnosis of achondrogenesis. (6413546)
1983
37
In utero diagnosis of achondrogenesis, type I. (7460382)
1981
38
Case report 122: lethal short-limbed dwarfism: achondrogenesis type 2 (Fraccaro-Langer-Saldino). (6970987)
1980
39
Normal lipid composition of fibroblasts from a case of type II achondrogenesis. (7439202)
1980
40
Prenatal diagnosis of achondrogenesis. (300166)
1977
41
Achondrogenesis, type I. (144655)
1977
42
Achondrogenesis type I. (849009)
1977
43
Prenatal diagnosis of achondrogenesis. (894421)
1977
44
Achondrogenesis type I in three sibling fetuses. Scanning and transmission electron microscopic studies. (1247086)
1976
45
Achondrogenesis: report on a case, with particular reference to ultrastructure and histochemistry. (4278835)
1974
46
Two types of heritable lethal achondrogenesis. (4424980)
1974
47
Achondrogenesis: case report and review of the literature. (4633363)
1973
48
Achondrogenesis. (4710446)
1973
49
Family with probable achondrogenesis and lipid inclusions in fibroblasts. (4120916)
1973
50
Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. (5582025)
1971

Variations for Achondrogenesis

About this section

Clinvar genetic disease variations for Achondrogenesis:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.2905G> A (p.Gly969Ser)single nucleotide variantPathogenicrs121912878GRCh37Chr 12, 48372172: 48372172
2COL2A1NM_001844.4(COL2A1): c.2671G> C (p.Gly891Arg)single nucleotide variantPathogenicrs121912879GRCh37Chr 12, 48373800: 48373800
3COL2A1NM_001844.4(COL2A1): c.1547G> A (p.Gly516Asp)single nucleotide variantPathogenicrs121912888GRCh37Chr 12, 48379729: 48379729
4COL2A1NM_001844.4(COL2A1): c.1637G> T (p.Gly546Val)single nucleotide variantPathogenicrs121912899GRCh37Chr 12, 48379554: 48379554
5SLC26A2SLC26A2, 1-BP DEL, 1751AdeletionPathogenic
6SLC26A2NM_000112.3(SLC26A2): c.532C> T (p.Arg178Ter)single nucleotide variantPathogenicrs104893919GRCh37Chr 5, 149357747: 149357747
7SLC26A2NM_000112.3(SLC26A2): c.1273A> G (p.Asn425Asp)single nucleotide variantPathogenicrs104893920GRCh37Chr 5, 149360429: 149360429
8SLC26A2NM_000112.3(SLC26A2): c.2033G> T (p.Gly678Val)single nucleotide variantPathogenicrs104893916GRCh37Chr 5, 149361189: 149361189
9TRIP11NM_004239.3(TRIP11): c.790C> T (p.Arg264Ter)single nucleotide variantPathogenicrs267607138GRCh37Chr 14, 92482073: 92482073
10TRIP11TRIP11, TRP1224TERundetermined variantPathogenic
11TRIP11TRIP11, IVS2AS, A-G, -2single nucleotide variantPathogenic
12TRIP11NM_004239.3(TRIP11): c.2102A> G (p.Asn701Ser)single nucleotide variantPathogenicrs139539448GRCh37Chr 14, 92472218: 92472218
13SLC26A2NM_000112.3(SLC26A2): c.1020_1022delTGT (p.Val341del)deletionPathogenicrs121908077GRCh37Chr 5, 149360176: 149360178

Expression for genes affiliated with Achondrogenesis

About this section
Search GEO for disease gene expression data for Achondrogenesis.

Pathways for genes affiliated with Achondrogenesis

About this section

Compounds for genes affiliated with Achondrogenesis

About this section
Sources:
43Novoseek, 24HMDB, 12DrugBank, 49PharmGKB, 28IUPHAR
See all sources

Compounds related to Achondrogenesis according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1oxalate439.7SLC26A5, SLC26A2
2pyridinoline439.7CD36, COL2A1
3iodide43 2410.7SLC26A2, SLC26A5
4formate439.6SLC26A5, SLC26A2
5alginate439.6CD36, COL2A1
6hydroxyproline43 24 1211.6COL2A1, CD36
7bicarbonate439.5SLC26A5, SLC26A2
8procollagen439.5CD36, COL2A1
9chloride439.4SLC26A5, SLC26A2
10glycosaminoglycan439.3CD36, COL2A1
11sulfate43 2410.3SLC26A5, SLC26A2, COL2A1
12dexamethasone43 49 28 1211.9COL2A1, CD36, SLC26A2
13cysteine438.6SLC26A2, CD36, COL2A1

GO Terms for genes affiliated with Achondrogenesis

About this section

Cellular components related to Achondrogenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:00160208.9TRIP11, SLC26A2, CD36

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

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:00076059.5SLC26A5, COL2A1

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

idNameGO IDScoreTop Affiliating Genes
1secondary active sulfate transmembrane transporter activityGO:00082719.4SLC26A5, SLC26A2

Products for genes affiliated with Achondrogenesis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Achondrogenesis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet