MCID: ACH011
MIFTS: 44

Achondrogenesis

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

Aliases & Classifications for Achondrogenesis

MalaCards integrated aliases for Achondrogenesis:

Name: Achondrogenesis 12 76 53 25 59 29 6 15
Achondrogenesis Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
achondrogenesis
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal;

Classifications:



Summaries for Achondrogenesis

NIH Rare Diseases : 53 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.

MalaCards based summary : Achondrogenesis, also known as achondrogenesis syndrome, is related to achondrogenesis, type ii and achondrogenesis, type ia. An important gene associated with Achondrogenesis is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ECM-receptor interaction and Intraflagellar transport. Affiliated tissues include bone, testes and skin, and related phenotypes are inguinal hernia and macrocephaly

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.

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.

Wikipedia : 76 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:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
2 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
3 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
4 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
6 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
7 thickened nuchal skin fold 59 32 hallmark (90%) Very frequent (99-80%) HP:0000474
8 cystic hygroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000476
9 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
10 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
11 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
12 hydrops fetalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001789
13 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
14 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
15 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
16 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
17 abnormal enchondral ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0003336
18 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
19 abnormality of bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004348
20 aplasia/hypoplasia of the lungs 59 32 hallmark (90%) Very frequent (99-80%) HP:0006703
21 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
22 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
23 malformation of the heart and great vessels 59 Occasional (29-5%)
24 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680

MGI Mouse Phenotypes related to Achondrogenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 SLC26A2 TRIP11 COL2A1 DYNC2H1
2 limbs/digits/tail MP:0005371 9.35 TRIP11 COL2A1 COL9A2 DYNC2H1 SLC26A2
3 skeleton MP:0005390 9.02 TRIP11 COL2A1 COL9A2 DYNC2H1 SLC26A2

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 29

Anatomical Context for Achondrogenesis

MalaCards organs/tissues related to Achondrogenesis:

41
Bone, Testes, Skin, Lung, Heart

Publications for Achondrogenesis

Articles related to Achondrogenesis:

(show top 50) (show all 99)
# Title Authors Year
1
The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects. ( 29180569 )
2018
2
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis. ( 29872333 )
2018
3
Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: Case report and differential diagnostic approach. ( 24144387 )
2013
4
The phenotype range of achondrogenesis 1A. ( 23956106 )
2013
5
Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism. ( 20583175 )
2010
6
Achondrogenesis type 1A--from mouse to human. ( 20089978 )
2010
7
Cause of achondrogenesis type 1A. ( 20847198 )
2010
8
Antenatal diagnosis of achondrogenesis type II. ( 20387359 )
2009
9
Prenatal diagnosis of achondrogenesis type I: a case report. ( 19094214 )
2008
10
Achondrogenesis type II with cutaneous hamartomata. ( 18541971 )
2008
11
Achondrogenesis. ( 17638434 )
2007
12
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father. ( 17994563 )
2007
13
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. ( 17638425 )
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
[Achondrogenesis type II-hypochondrogenesis: radiological features.Case report]. ( 11730591 )
2001
20
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias. ( 11727031 )
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
A case of achondrogenesis type II associated with huge cystic hygroma: prenatal diagnosis by ultrasonography. ( 10586482 )
1999
24
Prenatal sonographic diagnosis of type I achondrogenesis with a large cystic hygroma. ( 10201092 )
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
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
Achondrogenesis type 1B. ( 8950678 )
1996
29
A case of achondrogenesis type IA with an occipital encephalocele. ( 8897040 )
1996
30
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. ( 8528239 )
1996
31
Achondrogenesis type II (Langer-Saldino)--a case report. ( 8798967 )
1995
32
Prenatal diagnosis of Langer-Saldino achondrogenesis. ( 7699096 )
1995
33
Achondrogenesis type II with polydactyly. ( 8588578 )
1995
34
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
35
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
36
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
37
Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks' gestation. ( 7503212 )
1995
38
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. ( 8160740 )
1994
39
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. ( 7977372 )
1994
40
The boneless neonate: a severe form of achondrogenesis type I. ( 7824361 )
1994
41
Achondrogenesis Type 1B ( 20301689 )
1993
42
Achondrogenesis type II (Langer-Saldino). ( 8375887 )
1993
43
Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation. ( 8372079 )
1993
44
Collagen type II in Langer-Saldino achondrogenesis: absence of major abnormalities in a less severe case. ( 1515761 )
1992
45
Transvaginal ultrasound recognition of nuchal edema in the first-trimester diagnosis of achondrogenesis. ( 1663133 )
1991
46
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. ( 2074231 )
1990
47
Antenatal diagnosis of Parenti-Fraccaro type achondrogenesis. ( 2276781 )
1990
48
Prenatal diagnosis of achondrogenesis. ( 2193886 )
1990
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
Achondrogenesis type II (Langer-Saldino) in association with jugular lymphatic obstruction sequence. ( 2671977 )
1989

Variations for Achondrogenesis

ClinVar genetic disease variations for Achondrogenesis:

6
(show top 50) (show all 394)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIP11 NM_004239.4(TRIP11): c.4063T> A (p.Ser1355Thr) single nucleotide variant Uncertain significance rs138661581 GRCh37 Chromosome 14, 92470257: 92470257
2 TRIP11 NM_004239.4(TRIP11): c.4063T> A (p.Ser1355Thr) single nucleotide variant Uncertain significance rs138661581 GRCh38 Chromosome 14, 92003913: 92003913
3 TRIP11 NM_004239.4(TRIP11): c.5479G> A (p.Gly1827Ser) single nucleotide variant Benign rs1051340 GRCh37 Chromosome 14, 92441066: 92441066
4 TRIP11 NM_004239.4(TRIP11): c.5479G> A (p.Gly1827Ser) single nucleotide variant Benign rs1051340 GRCh38 Chromosome 14, 91974722: 91974722
5 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh37 Chromosome 5, 149360877: 149360877
6 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh38 Chromosome 5, 149981314: 149981314
7 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh37 Chromosome 5, 149360143: 149360143
8 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh38 Chromosome 5, 149980580: 149980580
9 TRIP11 NM_004239.4(TRIP11): c.382G> T (p.Ala128Ser) single nucleotide variant Uncertain significance rs141553918 GRCh37 Chromosome 14, 92488106: 92488106
10 TRIP11 NM_004239.4(TRIP11): c.382G> T (p.Ala128Ser) single nucleotide variant Uncertain significance rs141553918 GRCh38 Chromosome 14, 92021762: 92021762
11 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh38 Chromosome 5, 149981813: 149981813
12 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh37 Chromosome 5, 149361376: 149361376
13 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
14 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
15 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh37 Chromosome 5, 149360668: 149360668
16 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh38 Chromosome 5, 149981105: 149981105
17 TRIP11 NM_004239.4(TRIP11): c.3604A> C (p.Asn1202His) single nucleotide variant Conflicting interpretations of pathogenicity rs41301481 GRCh37 Chromosome 14, 92470716: 92470716
18 TRIP11 NM_004239.4(TRIP11): c.3604A> C (p.Asn1202His) single nucleotide variant Conflicting interpretations of pathogenicity rs41301481 GRCh38 Chromosome 14, 92004372: 92004372
19 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh38 Chromosome 5, 149960965: 149960965
20 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh37 Chromosome 5, 149340528: 149340528
21 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh38 Chromosome 5, 149980845: 149980845
22 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh37 Chromosome 5, 149360408: 149360408
23 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh38 Chromosome 5, 149980995: 149980995
24 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh37 Chromosome 5, 149360558: 149360558
25 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh37 Chromosome 5, 149361301: 149361301
26 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh38 Chromosome 5, 149981738: 149981738
27 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh37 Chromosome 5, 149361592: 149361592
28 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh38 Chromosome 5, 149982029: 149982029
29 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh37 Chromosome 5, 149361706: 149361706
30 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh38 Chromosome 5, 149982143: 149982143
31 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh37 Chromosome 5, 149361770: 149361770
32 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh38 Chromosome 5, 149982207: 149982207
33 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh37 Chromosome 5, 149361966: 149361966
34 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh38 Chromosome 5, 149982403: 149982403
35 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh37 Chromosome 5, 149362314: 149362314
36 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh38 Chromosome 5, 149982751: 149982751
37 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh37 Chromosome 5, 149362919: 149362919
38 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh38 Chromosome 5, 149983356: 149983356
39 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh37 Chromosome 5, 149363552: 149363552
40 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh38 Chromosome 5, 149983989: 149983989
41 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh37 Chromosome 5, 149363665: 149363665
42 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh38 Chromosome 5, 149984102: 149984102
43 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh37 Chromosome 5, 149363846: 149363846
44 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh38 Chromosome 5, 149984283: 149984283
45 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh37 Chromosome 5, 149363979: 149363979
46 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh38 Chromosome 5, 149984416: 149984416
47 SLC26A2 NM_000112.3(SLC26A2): c.*2617C> T single nucleotide variant Uncertain significance rs188922059 GRCh37 Chromosome 5, 149363993: 149363993
48 SLC26A2 NM_000112.3(SLC26A2): c.*2617C> T single nucleotide variant Uncertain significance rs188922059 GRCh38 Chromosome 5, 149984430: 149984430
49 SLC26A2 NM_000112.3(SLC26A2): c.*3261A> C single nucleotide variant Uncertain significance rs886060245 GRCh38 Chromosome 5, 149985074: 149985074
50 SLC26A2 NM_000112.3(SLC26A2): c.*3261A> C single nucleotide variant Uncertain significance rs886060245 GRCh37 Chromosome 5, 149364637: 149364637

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
Show member pathways
11.13 COL2A1 COL9A2
2 10.24 DYNC2H1 TRIP11

GO Terms for Achondrogenesis

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

# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 8.62 COL2A1 COL9A2

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.32 COL2A1 COL9A2
2 Golgi organization GO:0007030 9.26 DYNC2H1 TRIP11
3 ossification GO:0001503 9.16 COL2A1 SLC26A2
4 bone development GO:0060348 8.96 COL2A1 TRIP11
5 intraciliary transport involved in cilium assembly GO:0035735 8.62 DYNC2H1 TRIP11

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL2A1 COL9A2

Sources for Achondrogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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