MCID: HYP041
MIFTS: 37

Hypochondrogenesis

Categories: Bone diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Hypochondrogenesis

MalaCards integrated aliases for Hypochondrogenesis:

Name: Hypochondrogenesis 12 74 25 29 6 43 15 71
Achondrogenesis Type Ii/hypochondrogenesis 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0080044
MeSH 43 C563007
UMLS 71 C0542428

Summaries for Hypochondrogenesis

Genetics Home Reference : 25 Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis. Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Bones in the skull develop normally, but the bones of the spine (vertebrae) and pelvis do not harden (ossify) properly. The face appears flat and oval-shaped, with widely spaced eyes, a small chin, and, in some cases, an opening in the roof of the mouth called a cleft palate. Individuals with hypochondrogenesis have an enlarged abdomen and may have a condition called hydrops fetalis in which excess fluid builds up in the body before birth. As a result of these serious health problems, some affected fetuses do not survive to term. Infants born with hypochondrogenesis usually die at birth or shortly thereafter from respiratory failure. Babies who live past the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related but milder disorder that similarly affects bone development.

MalaCards based summary : Hypochondrogenesis, also known as achondrogenesis type ii/hypochondrogenesis, is related to spondyloepiphyseal dysplasia congenita and achondrogenesis, type ii, and has symptoms including enlarged abdomen An important gene associated with Hypochondrogenesis is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include vertebral column, pelvis and bone, and related phenotypes are Increased caspase activity and Increased caspase activity

Disease Ontology : 12 An osteochondrodysplasia that has material basis in a mutation in the COL2A1 gene which affects bone growth and results in a small body, hydrops fetalis, and abnormal ossification located in vertebral column or located in pelvis. The disease has symptom enlarged abdomen.

Wikipedia : 74 Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth. The condition is... more...

Related Diseases for Hypochondrogenesis

Diseases related to Hypochondrogenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia congenita 31.0 TRAPPC2B TRAPPC2 COL9A1 COL2A1 COL11A2
2 achondrogenesis, type ii 30.9 SOWAHB SEMA3A MATN1 FAM189A1 COL2A1 COL11A2
3 achondroplasia 30.7 COL2A1 ACAN
4 spondyloepiphyseal dysplasia with congenital joint dislocations 29.8 TRAPPC2B TRAPPC2 SEMA3A COL9A2 COL9A1 COL2A1
5 stickler syndrome 29.4 COL9A2 COL9A1 COL2A1 COL11A2 ACAN
6 achondrogenesis 28.2 TRAPPC2B TRAPPC2 MATN1 COL9A2 COL9A1 COL2A1
7 skeletal dysplasias 10.4
8 otospondylomegaepiphyseal dysplasia, autosomal recessive 10.3 COL2A1 COL11A2
9 spondyloepimetaphyseal dysplasia, strudwick type 10.3 SEMA3A COL2A1
10 macroglossia 10.3 COL9A1 COL2A1
11 kohler's disease 10.3 COL2A1 COL11A2
12 simpson-golabi-behmel syndrome, type 1 10.3 COL2A1 ACAN
13 thanatophoric dysplasia, type i 10.3
14 dwarfism 10.3
15 vitreoretinal degeneration 10.2 COL9A2 COL2A1
16 multiple epiphyseal dysplasia due to collagen 9 anomaly 10.2 COL9A2 COL9A1
17 multiple epiphyseal dysplasia, autosomal dominant 10.2 COL9A2 COL9A1
18 epiphyseal dysplasia, multiple, 6 10.2 COL9A2 COL9A1
19 autosomal recessive stickler syndrome 10.2 COL9A2 COL9A1
20 epiphyseal dysplasia, multiple, 3 10.2 COL9A2 COL9A1
21 retinal perforation 10.2 COL2A1 COL11A2
22 epiphyseal dysplasia, multiple, 2 10.2 COL9A2 COL9A1
23 spondyloepimetaphyseal dysplasia, missouri type 10.2 SEMA3A ACAN
24 eye degenerative disease 10.2 COL9A2 COL2A1
25 epiphyseal dysplasia, multiple, 1 10.1 COL9A2 COL9A1
26 atelosteogenesis 10.1 COL9A2 COL9A1
27 caffey disease 10.1 COL2A1 COL11A2
28 brachyolmia 10.1 SEMA3A COL2A1 ACAN
29 ischemic bone disease 10.1 COL2A1 ACAN
30 polydactyly 10.1
31 brittle bone disorder 10.1
32 short-rib thoracic dysplasia 10 with or without polydactyly 10.1
33 asphyxiating thoracic dystrophy 10.1
34 polyhydramnios 10.1
35 type ii collagen disorders 10.1
36 short rib-polydactyly syndrome 10.1
37 epiphyseal dysplasia, multiple, 4 10.1 COL9A2 COL9A1
38 chondromalacia 10.1 MATN1 ACAN
39 osteochondrosis 10.1 COL9A1 COL2A1 ACAN
40 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.1 COL9A1 COL2A1 COL11A2
41 enchondromatosis, multiple, ollier type 10.0 COL2A1 ACAN
42 diastrophic dysplasia 10.0 COL9A2 COL9A1 COL2A1
43 retinal detachment 10.0 COL9A2 COL9A1 COL2A1
44 osteochondritis dissecans 10.0 COL9A2 COL9A1 ACAN
45 cartilage disease 10.0 MATN1 COL2A1 ACAN
46 schneckenbecken dysplasia 9.9 TRAPPC2B COL2A1 COL11A2
47 synovitis 9.9 MATN1 COL2A1 ACAN
48 epiphyseal dysplasia, multiple, 5 9.8 MATN1 COL9A2 COL9A1
49 orofacial cleft 9.8 COL9A1 COL2A1 COL11A2
50 intervertebral disc disease 9.8 COL9A2 COL11A2

Graphical network of the top 20 diseases related to Hypochondrogenesis:



Diseases related to Hypochondrogenesis

Symptoms & Phenotypes for Hypochondrogenesis

Symptoms:

12
  • enlarged abdomen

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased caspase activity GR00400-S-1 9.02 COL11A2 COL9A1 SOWAHB
2 Increased caspase activity GR00400-S-2 9.02 COL11A2 SOWAHB

MGI Mouse Phenotypes related to Hypochondrogenesis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.26 COL11A2 COL2A1 COL9A1 COL9A2
2 skeleton MP:0005390 9.1 COL11A2 COL2A1 COL9A1 COL9A2 MATN1 SEMA3A

Drugs & Therapeutics for Hypochondrogenesis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754

Search NIH Clinical Center for Hypochondrogenesis

Cochrane evidence based reviews: hypochondrogenesis

Genetic Tests for Hypochondrogenesis

Genetic tests related to Hypochondrogenesis:

# Genetic test Affiliating Genes
1 Hypochondrogenesis 29

Anatomical Context for Hypochondrogenesis

The Foundational Model of Anatomy Ontology organs/tissues related to Hypochondrogenesis:

19
Vertebral Column, Pelvis

MalaCards organs/tissues related to Hypochondrogenesis:

40
Bone, Eye, Lung

Publications for Hypochondrogenesis

Articles related to Hypochondrogenesis:

(show all 49)
# Title Authors PMID Year
1
A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita. 61
30932712 2019
2
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. 61
30284005 2019
3
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. 61
26443184 2016
4
Prenatal sonographic diagnosis of skeletal dysplasias. 61
19548204 2009
5
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. 61
19072565 2008
6
Visceral manifestations of hypochondrogenesis. 61
18642028 2008
7
Specific ultrasonographic features of perinatal lethal hypophosphatasia. 61
18386808 2008
8
Hypochondrogenesis. 61
16432703 2006
9
All-trans retinoic acid inhibited chondrogenesis of mouse embryonic palate mesenchymal cells by down-regulation of TGF-beta/Smad signaling. 61
16410076 2006
10
Use of three-dimensional ultrasound imaging in the diagnosis of prenatal-onset skeletal dysplasias. 61
12768559 2003
11
Three-dimensional ultrasonographic presentation of micrognathia. 61
12099566 2002
12
Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report. 61
11956729 2002
13
[Achondrogenesis type II-hypochondrogenesis: radiological features.Case report]. 61
11730591 2001
14
[Osteochondrodysplasia determined genetically by a collagen type II gene mutation]. 61
11481990 2001
15
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. 61
10797431 2000
16
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. 61
10745044 2000
17
Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. 61
9800905 1998
18
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. 61
9468540 1998
19
Type II collagen pro-alpha-chains containing a Gly574Ser mutation are not incorporated into the cartilage matrix of transgenic mice. 61
9314159 1997
20
Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen. 61
9022054 1997
21
New form of bone dysplasia with multiple fractures associated with monosomy X. 61
8958323 1996
22
An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis. 61
8723098 1996
23
Cardiac malformation in two infants with hypochondrogenesis. 61
8599352 1995
24
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. 61
7550321 1995
25
Modulation of limb bud chondrogenesis by retinoic acid and retinoic acid receptors. 61
8619960 1995
26
Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis. 61
7612049 1995
27
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. 61
7741714 1995
28
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. 61
7847372 1995
29
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. 61
7757081 1995
30
Localization of the expression of type I, II and III collagen genes in human normal and hypochondrogenesis cartilage canals. 61
7843983 1994
31
Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes. 61
8175802 1994
32
Non-collagenous protein screening in the human chondrodysplasias: link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin. 61
8030664 1994
33
The type II collagenopathies: a spectrum of chondrodysplasias. 61
8157027 1994
34
Ultrastructural alterations and retention of the C-propeptide of type II collagen in human chondrocytes exposed in vitro to brefeldin A. 61
8268044 1993
35
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. 61
1429602 1992
36
Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis. 61
1374906 1992
37
[Contribution to hypochondrogenesis]. 61
1614083 1992
38
Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update. 61
1563395 1992
39
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. 61
2074231 1990
40
Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism. 61
2572591 1989
41
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. 61
3195588 1988
42
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. 61
3057886 1988
43
Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases. 61
3072551 1988
44
Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. 61
3717210 1986
45
Pathogenic mechanisms in osteochondrodysplasias. 61
6376516 1984
46
Hypochondrogenesis. 61
6641761 1983
47
Hypochondrogenesis; an additional case. 61
6628450 1983
48
[Fatal congenital spondylo-epiphysial dysplasia or hypochondrogenesis]. 61
6808595 1982
49
[Achondrogenesis type I and II and hypochondrogenesis (author's transl)]. 61
7469190 1980

Variations for Hypochondrogenesis

ClinVar genetic disease variations for Hypochondrogenesis:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser)SNV Pathogenic 17352 rs121912864 12:48371156-48371156 12:47977373-47977373
2 COL2A1 NM_001844.5(COL2A1):c.2320G>A (p.Gly774Ser)SNV Pathogenic 17357 rs121912867 12:48375925-48375925 12:47982142-47982142
3 COL2A1 NM_001844.5(COL2A1):c.3158G>A (p.Gly1053Glu)SNV Pathogenic 17359 rs121912868 12:48371390-48371390 12:47977607-47977607

Expression for Hypochondrogenesis

Search GEO for disease gene expression data for Hypochondrogenesis.

Pathways for Hypochondrogenesis

Pathways related to Hypochondrogenesis according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 SEMA3A COL9A2 COL9A1 COL2A1 COL11A2 ACAN
2
Show member pathways
13.01 COL9A2 COL9A1 COL2A1 COL11A2 ACAN
3
Show member pathways
12.63 SEMA3A COL9A2 COL9A1 COL2A1 COL11A2 ACAN
4
Show member pathways
12.47 COL9A2 COL9A1 COL2A1 COL11A2
5
Show member pathways
12.4 COL9A2 COL9A1 COL2A1 COL11A2
6
Show member pathways
12.09 MATN1 COL9A2 COL9A1 COL2A1 COL11A2 ACAN
7
Show member pathways
11.69 COL9A2 COL9A1 COL2A1
8 11.02 COL9A2 COL9A1
9 10.99 COL2A1 ACAN
10 10.68 MATN1 COL9A2 COL9A1 ACAN
11 10.54 SEMA3A COL9A2 COL9A1 COL2A1 COL11A2 ACAN

GO Terms for Hypochondrogenesis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 SEMA3A MATN1 COL9A2 COL9A1 COL2A1 COL11A2
2 extracellular space GO:0005615 9.88 SEMA3A MATN1 COL9A2 COL9A1 COL2A1 COL11A2
3 endoplasmic reticulum lumen GO:0005788 9.62 COL9A2 COL9A1 COL2A1 COL11A2
4 collagen trimer GO:0005581 9.46 COL9A2 COL9A1 COL2A1 COL11A2
5 collagen-containing extracellular matrix GO:0062023 9.43 MATN1 COL9A2 COL9A1 COL2A1 COL11A2 ACAN
6 collagen type IX trimer GO:0005594 9.26 COL9A2 COL9A1
7 extracellular matrix GO:0031012 9.1 MATN1 COL9A2 COL9A1 COL2A1 COL11A2 ACAN

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system morphogenesis GO:0048705 9.4 COL2A1 COL11A2
2 chondrocyte differentiation GO:0002062 9.37 COL2A1 COL11A2
3 skeletal system development GO:0001501 9.35 TRAPPC2 COL9A2 COL2A1 COL11A2 ACAN
4 collagen fibril organization GO:0030199 9.33 COL2A1 COL11A2 ACAN
5 tissue homeostasis GO:0001894 9.32 COL2A1 COL11A2
6 cartilage condensation GO:0001502 9.26 COL2A1 ACAN
7 extracellular matrix organization GO:0030198 9.1 MATN1 COL9A2 COL9A1 COL2A1 COL11A2 ACAN

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL9A2 COL9A1 COL2A1 COL11A2
2 extracellular matrix structural constituent GO:0005201 9.1 MATN1 COL9A2 COL9A1 COL2A1 COL11A2 ACAN

Sources for Hypochondrogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....