MCID: ACH011
MIFTS: 40

Achondrogenesis

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

Aliases & Classifications for Achondrogenesis

MalaCards integrated aliases for Achondrogenesis:

Name: Achondrogenesis 12 77 54 26 60 30 6 15 41
Achondrogenesis Syndrome 26

Characteristics:

Orphanet epidemiological data:

60
achondrogenesis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal;

Classifications:



Summaries for Achondrogenesis

NIH Rare Diseases : 54 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, extremely short arms and legs, other skeletal abnormalities, and underdeveloped lungs. There are at least three forms of achondrogenesis, type 1A, type 1B and type 2. Achondrogenesis is usually diagnosed during pregnancy by ultrasound and genetic testing is used to distinguish between the three types. Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern. Type 1A is caused by mutations in the TRIP11 gene. Type 1B is caused by mutations in the SLC26A2 gene. Type 2 achondrogenesis is caused by new (de novo) mutations in the COL2A1 gene.  Because of the severity of this condition, most infants with achondrogenesis die before or shortly after birth.  

MalaCards based summary : Achondrogenesis, also known as achondrogenesis syndrome, is related to achondrogenesis, type ia and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Achondrogenesis is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways is Articular Cartilage Extracellular Matrix Pathway. Affiliated tissues include bone, lung and testes, and related phenotypes are macrocephaly and short neck

Disease Ontology : 12 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 : 26 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 : 77 Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia... more...

Related Diseases for Achondrogenesis

Graphical network of the top 20 diseases related to Achondrogenesis:



Diseases related to Achondrogenesis

Symptoms & Phenotypes for Achondrogenesis

Human phenotypes related to Achondrogenesis:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
3 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
4 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
5 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
6 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
7 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
8 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
9 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
10 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
11 short thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0010306
12 hydrops fetalis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001789
13 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
14 thickened nuchal skin fold 60 33 hallmark (90%) Very frequent (99-80%) HP:0000474
15 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
16 abnormality of bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0004348
17 aplasia/hypoplasia of the lungs 60 33 hallmark (90%) Very frequent (99-80%) HP:0006703
18 abnormal enchondral ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0003336
19 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
20 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
21 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
22 cystic hygroma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000476
23 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
24 malformation of the heart and great vessels 60 Occasional (29-5%)

GenomeRNAi Phenotypes related to Achondrogenesis according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.17 SLC26A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.17 SLC26A2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.17 SLC26A2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.17 SLC26A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.17 FAM120A SLC26A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.17 FAM120A

Drugs & Therapeutics for Achondrogenesis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Skeletal Disorders and Short Stature Completed NCT00001754

Search NIH Clinical Center for Achondrogenesis

Genetic Tests for Achondrogenesis

Genetic tests related to Achondrogenesis:

# Genetic test Affiliating Genes
1 Achondrogenesis 30

Anatomical Context for Achondrogenesis

MalaCards organs/tissues related to Achondrogenesis:

42
Bone, Lung, Testes, Skin, Heart

Publications for Achondrogenesis

Articles related to Achondrogenesis:

(show top 50) (show all 99)
# Title Authors Year
1
New subtype of familial achondrogenesis type IA (Houston-Harris). ( 30951048 )
2019
2
The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects. ( 29180569 )
2018
3
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. ( 29872333 )
2018
4
Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester. ( 24144387 )
2014
5
The phenotype range of achondrogenesis 1A. ( 23956106 )
2013
6
Achondrogenesis type 1A--from mouse to human. ( 20089978 )
2010
7
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. ( 20583175 )
2010
8
Antenatal diagnosis of achondrogenesis type II. ( 20387359 )
2009
9
Achondrogenesis type II with cutaneous hamartomata. ( 18541971 )
2008
10
Prenatal diagnosis of achondrogenesis type I: a case report. ( 19094214 )
2008
11
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. ( 17638425 )
2007
12
Achondrogenesis. ( 17638434 )
2007
13
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. ( 17994563 )
2007
14
Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis. ( 17128855 )
2006
15
Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). ( 15574381 )
2005
16
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. ( 15054848 )
2004
17
Achondrogenesis type II with normally developed extremities: a case report. ( 12124695 )
2002
18
Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype. ( 11570921 )
2001
19
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. ( 11727031 )
2001
20
[Achondrogenesis type II-hypochondrogenesis: radiological features.Case report]. ( 11730591 )
2001
21
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. ( 10797431 )
2000
22
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report. ( 11069003 )
2000
23
Prenatal sonographic diagnosis of type I achondrogenesis with a large cystic hygroma. ( 10201092 )
1999
24
A case of achondrogenesis type II associated with huge cystic hygroma: prenatal diagnosis by ultrasonography. ( 10586482 )
1999
25
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. ( 9637425 )
1998
26
Achondrogenesis type IA with an occipital encephalocele. ( 9101279 )
1997
27
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ( 8528239 )
1996
28
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
29
A case of achondrogenesis type IA with an occipital encephalocele. ( 8897040 )
1996
30
Achondrogenesis type 1B. ( 8950678 )
1996
31
Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks' gestation. ( 7503212 )
1995
32
Prenatal diagnosis of Langer-Saldino achondrogenesis. ( 7699096 )
1995
33
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
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
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
36
Achondrogenesis type II with polydactyly. ( 8588578 )
1995
37
Achondrogenesis type II (Langer-Saldino)--a case report. ( 8798967 )
1995
38
The boneless neonate: a severe form of achondrogenesis type I. ( 7824361 )
1994
39
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. ( 7977372 )
1994
40
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. ( 8160740 )
1994
41
Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation. ( 8372079 )
1993
42
Achondrogenesis type II (Langer-Saldino). ( 8375887 )
1993
43
Collagen type II in Langer-Saldino achondrogenesis: absence of major abnormalities in a less severe case. ( 1515761 )
1992
44
Transvaginal ultrasound recognition of nuchal edema in the first-trimester diagnosis of achondrogenesis. ( 1663133 )
1991
45
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. ( 2074231 )
1990
46
Prenatal diagnosis of achondrogenesis. ( 2193886 )
1990
47
Antenatal diagnosis of Parenti-Fraccaro type achondrogenesis. ( 2276781 )
1990
48
Achondrogenesis type II (Langer-Saldino) in association with jugular lymphatic obstruction sequence. ( 2671977 )
1989
49
The absence of type II collagen and changes in proteoglycan structure of hyaline cartilage in a case of Langer-Saldino achondrogenesis. ( 2714779 )
1989
50
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. ( 3057886 )
1988

Variations for Achondrogenesis

ClinVar genetic disease variations for Achondrogenesis:

6 (show top 50) (show all 398)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh37 Chromosome 5, 149360630: 149360630
2 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh38 Chromosome 5, 149981067: 149981067
3 SLC26A2 NM_000112.3(SLC26A2): c.2065A> T (p.Thr689Ser) single nucleotide variant Benign rs3776070 GRCh37 Chromosome 5, 149361221: 149361221
4 SLC26A2 NM_000112.3(SLC26A2): c.2065A> T (p.Thr689Ser) single nucleotide variant Benign rs3776070 GRCh38 Chromosome 5, 149981658: 149981658
5 TRIP11 NM_004239.4(TRIP11): c.4063T> A (p.Ser1355Thr) single nucleotide variant Uncertain significance rs138661581 GRCh37 Chromosome 14, 92470257: 92470257
6 TRIP11 NM_004239.4(TRIP11): c.4063T> A (p.Ser1355Thr) single nucleotide variant Uncertain significance rs138661581 GRCh38 Chromosome 14, 92003913: 92003913
7 TRIP11 NM_004239.4(TRIP11): c.5479G> A (p.Gly1827Ser) single nucleotide variant Benign rs1051340 GRCh37 Chromosome 14, 92441066: 92441066
8 TRIP11 NM_004239.4(TRIP11): c.5479G> A (p.Gly1827Ser) single nucleotide variant Benign rs1051340 GRCh38 Chromosome 14, 91974722: 91974722
9 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh37 Chromosome 5, 149360877: 149360877
10 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh38 Chromosome 5, 149981314: 149981314
11 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh37 Chromosome 5, 149360143: 149360143
12 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh38 Chromosome 5, 149980580: 149980580
13 TRIP11 NM_004239.4(TRIP11): c.382G> T (p.Ala128Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141553918 GRCh37 Chromosome 14, 92488106: 92488106
14 TRIP11 NM_004239.4(TRIP11): c.382G> T (p.Ala128Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141553918 GRCh38 Chromosome 14, 92021762: 92021762
15 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh38 Chromosome 5, 149981813: 149981813
16 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh37 Chromosome 5, 149361376: 149361376
17 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
18 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
19 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh37 Chromosome 5, 149360668: 149360668
20 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh38 Chromosome 5, 149981105: 149981105
21 TRIP11 NM_004239.4(TRIP11): c.3604A> C (p.Asn1202His) single nucleotide variant Conflicting interpretations of pathogenicity rs41301481 GRCh37 Chromosome 14, 92470716: 92470716
22 TRIP11 NM_004239.4(TRIP11): c.3604A> C (p.Asn1202His) single nucleotide variant Conflicting interpretations of pathogenicity rs41301481 GRCh38 Chromosome 14, 92004372: 92004372
23 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh38 Chromosome 5, 149960965: 149960965
24 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh37 Chromosome 5, 149340528: 149340528
25 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh38 Chromosome 5, 149980845: 149980845
26 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh37 Chromosome 5, 149360408: 149360408
27 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh38 Chromosome 5, 149980995: 149980995
28 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh37 Chromosome 5, 149360558: 149360558
29 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh37 Chromosome 5, 149361301: 149361301
30 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh38 Chromosome 5, 149981738: 149981738
31 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh37 Chromosome 5, 149361592: 149361592
32 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh38 Chromosome 5, 149982029: 149982029
33 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh37 Chromosome 5, 149361706: 149361706
34 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh38 Chromosome 5, 149982143: 149982143
35 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh37 Chromosome 5, 149361770: 149361770
36 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh38 Chromosome 5, 149982207: 149982207
37 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh37 Chromosome 5, 149361966: 149361966
38 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh38 Chromosome 5, 149982403: 149982403
39 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh37 Chromosome 5, 149362314: 149362314
40 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh38 Chromosome 5, 149982751: 149982751
41 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh37 Chromosome 5, 149362919: 149362919
42 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh38 Chromosome 5, 149983356: 149983356
43 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh38 Chromosome 5, 149983989: 149983989
44 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh37 Chromosome 5, 149363552: 149363552
45 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh38 Chromosome 5, 149984102: 149984102
46 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh37 Chromosome 5, 149363665: 149363665
47 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh38 Chromosome 5, 149984283: 149984283
48 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh37 Chromosome 5, 149363846: 149363846
49 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh38 Chromosome 5, 149984416: 149984416
50 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh37 Chromosome 5, 149363979: 149363979

Expression for Achondrogenesis

Search GEO for disease gene expression data for Achondrogenesis.

Pathways for Achondrogenesis

Pathways related to Achondrogenesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.18 COL2A1 MATN4

GO Terms for Achondrogenesis

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

# Name GO ID Score Top Affiliating Genes
1 cis-Golgi network GO:0005801 8.62 GOLGA2 TRIP11

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

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.26 GOLGA2 TRIP11
2 Golgi organization GO:0007030 9.16 GOLGA2 TRIP11
3 ossification GO:0001503 8.96 COL2A1 SLC26A2
4 bone development GO:0060348 8.62 COL2A1 TRIP11

Sources for Achondrogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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