MCID: HYP041
MIFTS: 42

Hypochondrogenesis

Categories: Bone diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Hypochondrogenesis

MalaCards integrated aliases for Hypochondrogenesis:

Name: Hypochondrogenesis 12 75 25 29 6 44 15 72
Achondrogenesis Type Ii/hypochondrogenesis 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0080044
MeSH 44 C563007
UMLS 72 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 with congenital joint dislocations 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 Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include bone, lung and eye, and related phenotypes are behavior/neurological and cardiovascular system

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 : 75 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 all 47)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 32.3 COL2A1 ACAN
2 achondrogenesis, type ii 31.9 SEMA3A LOC105369752 FMOD COMP COL2A1 ACAN
3 spondyloepiphyseal dysplasia congenita 31.8 SEMA3A COMP COL2A1 COL1A2 ASPN
4 skeletal dysplasias 31.2 COMP COL2A1
5 achondrogenesis 10.6
6 epiphyseal dysplasia, multiple, with myopia and conductive deafness 10.6 LOC105369752 COL2A1
7 osteoarthritis with mild chondrodysplasia 10.5 LOC105369752 COL2A1
8 spondyloperipheral dysplasia 10.5 LOC105369752 COL2A1
9 spondyloepimetaphyseal dysplasia, strudwick type 10.4 SEMA3A COL2A1
10 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.3 SEMA3A COL2A1
11 synovial chondromatosis 10.3 TGFB3 COL2A1
12 achondrogenesis, type ia 10.3 COL2A1 ACAN
13 thanatophoric dysplasia, type i 10.2
14 dwarfism 10.2
15 simpson-golabi-behmel syndrome, type 1 10.2 COL2A1 ACAN
16 diastrophic dysplasia 10.2 COMP COL2A1
17 bone chondrosarcoma 10.2 COMP ACAN
18 achondroplasia 10.1
19 polydactyly 10.1
20 brittle bone disorder 10.1
21 short-rib thoracic dysplasia 10 with or without polydactyly 10.1
22 asphyxiating thoracic dystrophy 10.1
23 stickler syndrome 10.1
24 polyhydramnios 10.1
25 col1a1/2-related osteogenesis imperfecta 10.1
26 type ii collagen disorders 10.1
27 collagenopathy type 2 alpha 1 10.1
28 short rib-polydactyly syndrome 10.1
29 bone development disease 10.1 COMP COL2A1 COL1A2
30 cartilage disease 10.1 COMP COL2A1 ACAN
31 loeys-dietz syndrome 4 10.0 TGFB3 SMAD3
32 transient arthritis 10.0 COMP ACAN
33 multiple epiphyseal dysplasia 10.0 COMP COL2A1 ACAN
34 pseudoachondroplasia 10.0 FMOD COMP ACAN
35 bone inflammation disease 10.0 COMP COL2A1 ACAN
36 spinal stenosis 9.9 COL2A1 COL1A2 ACAN
37 osteoarthritis 9.8 COMP COL2A1 ASPN ACAN
38 peyronie's disease 9.8 TGFB3 SMAD7 SMAD3
39 kniest dysplasia 9.7 SEMA3A FMOD COMP COL2A1 ASPN
40 bone deterioration disease 9.7 COL2A1 ACAN
41 scoliosis 9.6 COL2A1 COL1A2 ACAN
42 spondylocarpotarsal synostosis syndrome 9.5 SMAD3 SMAD2 COL2A1
43 hypertrophic scars 9.4 TGFB3 SMAD3 SMAD2
44 nephrogenic systemic fibrosis 9.4 SMAD7 SMAD3 SMAD2
45 ureteral disease 9.3 SMAD7 SMAD3 SMAD2
46 urinary tract obstruction 9.3 SMAD7 SMAD3 SMAD2
47 renal fibrosis 9.3 SMAD7 SMAD3 SMAD2

Graphical network of the top 20 diseases related to Hypochondrogenesis:



Diseases related to Hypochondrogenesis

Symptoms & Phenotypes for Hypochondrogenesis

Symptoms:

12
  • enlarged abdomen

MGI Mouse Phenotypes related to Hypochondrogenesis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 COL1A2 COL2A1 COMP FMOD SEMA3A SMAD2
2 cardiovascular system MP:0005385 10.13 COL1A2 COL2A1 COMP FMOD SEMA3A SMAD2
3 cellular MP:0005384 10.06 COL1A2 COL2A1 COMP FMOD SEMA3A SMAD2
4 growth/size/body region MP:0005378 9.96 COL1A2 COL2A1 COMP FMOD SEMA3A SMAD2
5 craniofacial MP:0005382 9.85 COL2A1 FMOD SMAD2 SMAD3 SMAD7 TGFB3
6 immune system MP:0005387 9.81 COL2A1 COMP FMOD SEMA3A SMAD2 SMAD3
7 digestive/alimentary MP:0005381 9.8 COL2A1 SMAD2 SMAD3 SMAD7 SPTA1 TGFB3
8 limbs/digits/tail MP:0005371 9.43 COL1A2 COL2A1 COMP FMOD SMAD3 TGFB3
9 skeleton MP:0005390 9.28 COL1A2 COL2A1 COMP FMOD SEMA3A SMAD2

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

MalaCards organs/tissues related to Hypochondrogenesis:

41
Bone, Lung, Eye

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

19
Vertebral Column, Pelvis

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

Variations for Hypochondrogenesis

ClinVar genetic disease variations for Hypochondrogenesis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1): c.3220G> A (p.Gly1074Ser) single nucleotide variant Pathogenic rs121912864 12:48371156-48371156 12:47977373-47977373
2 COL2A1 NM_001844.5(COL2A1): c.2320G> A (p.Gly774Ser) single nucleotide variant Pathogenic rs121912867 12:48375925-48375925 12:47982142-47982142
3 COL2A1 NM_001844.5(COL2A1): c.3158G> A (p.Gly1053Glu) single nucleotide variant Pathogenic 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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 TGFB3 SEMA3A COL2A1 COL1A2 ACAN
2
Show member pathways
12.15 TGFB3 FMOD COMP COL2A1 COL1A2 ASPN
3 12.09 TGFB3 SMAD3 SMAD2
4 12.03 TGFB3 SMAD3 SMAD2
5 12 TGFB3 SMAD3 SMAD2
6 12 TGFB3 SMAD7 SMAD3 SMAD2
7
Show member pathways
11.99 COMP COL2A1 COL1A2
8
Show member pathways
11.92 TGFB3 SMAD3 SMAD2
9
Show member pathways
11.91 TGFB3 SMAD7 SMAD3 SMAD2 SEMA3A
10 11.9 TGFB3 SMAD3 SMAD2
11 11.9 SMAD7 SMAD3 SMAD2 COL1A2
12
Show member pathways
11.88 TGFB3 SMAD3 SMAD2
13 11.73 TGFB3 SMAD3 SMAD2 COL1A2
14 11.69 TGFB3 SMAD7 SMAD3 SMAD2
15 11.64 TGFB3 SMAD7 SMAD3 SMAD2
16 11.59 SMAD7 SMAD3 SMAD2
17 11.56 TGFB3 SMAD3 SMAD2
18
Show member pathways
11.56 SMAD7 SMAD3 SMAD2
19 11.51 SMAD7 SMAD3 SMAD2 COL1A2
20 11.46 SMAD7 SMAD3 SMAD2
21
Show member pathways
11.43 TGFB3 SMAD3 SMAD2
22 11.27 TGFB3 SMAD7 SMAD3 SMAD2
23 11.15 SMAD3 SMAD2
24 11.11 TGFB3 SMAD3 SMAD2
25
Show member pathways
11.08 TGFB3 SMAD7
26 11.05 TGFB3 SMAD2
27 11.03 SMAD3 SMAD2
28 11.01 FMOD COMP COL2A1 ACAN
29
Show member pathways
10.93 FMOD ACAN
30 10.88 SMAD3 SMAD2
31 10.85 TGFB3 SEMA3A COL2A1 COL1A2 ACAN
32 10.84 SMAD3 SMAD2
33 10.78 TGFB3 FMOD COMP ASPN 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 9.92 TGFB3 SEMA3A FMOD COMP COL2A1 COL1A2
2 extracellular matrix GO:0031012 9.43 FMOD COMP COL2A1 COL1A2 ASPN ACAN
3 SMAD protein complex GO:0071141 9.26 SMAD3 SMAD2
4 collagen-containing extracellular matrix GO:0062023 9.17 TGFB3 FMOD COMP COL2A1 COL1A2 ASPN
5 heteromeric SMAD protein complex GO:0071144 9.16 SMAD3 SMAD2

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.78 COMP COL2A1 COL1A2 ACAN
2 wound healing GO:0042060 9.75 TGFB3 SMAD3 SMAD2
3 SMAD protein signal transduction GO:0060395 9.67 TGFB3 SMAD3 SMAD2
4 positive regulation of bone mineralization GO:0030501 9.65 TGFB3 SMAD3
5 odontogenesis GO:0042476 9.65 TGFB3 COL1A2
6 mesoderm formation GO:0001707 9.65 SMAD3 SMAD2
7 skeletal system development GO:0001501 9.65 SMAD3 COMP COL2A1 COL1A2 ACAN
8 endoderm development GO:0007492 9.64 SMAD3 SMAD2
9 developmental growth GO:0048589 9.64 SMAD3 SMAD2
10 keratan sulfate biosynthetic process GO:0018146 9.63 FMOD ACAN
11 cell-cell junction organization GO:0045216 9.63 TGFB3 SMAD3
12 adrenal gland development GO:0030325 9.62 SMAD3 SMAD2
13 embryonic pattern specification GO:0009880 9.62 SMAD3 SMAD2
14 signal transduction involved in regulation of gene expression GO:0023019 9.61 SMAD3 SMAD2
15 cartilage condensation GO:0001502 9.61 COL2A1 ACAN
16 positive regulation of epithelial to mesenchymal transition GO:0010718 9.61 TGFB3 SMAD3 SMAD2
17 activin receptor signaling pathway GO:0032924 9.6 SMAD3 SMAD2
18 secondary palate development GO:0062009 9.59 TGFB3 SMAD2
19 keratan sulfate catabolic process GO:0042340 9.58 FMOD ACAN
20 ureteric bud development GO:0001657 9.58 SMAD7 SMAD3 SMAD2
21 primary miRNA processing GO:0031053 9.57 SMAD3 SMAD2
22 nodal signaling pathway GO:0038092 9.56 SMAD3 SMAD2
23 pericardium development GO:0060039 9.55 SMAD3 SMAD2
24 embryonic foregut morphogenesis GO:0048617 9.54 SMAD3 SMAD2
25 response to laminar fluid shear stress GO:0034616 9.52 TGFB3 SMAD7
26 SMAD protein complex assembly GO:0007183 9.51 SMAD3 SMAD2
27 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.5 SMAD7 SMAD3 SMAD2
28 regulation of binding GO:0051098 9.46 SMAD3 SMAD2
29 collagen fibril organization GO:0030199 9.46 FMOD COL2A1 COL1A2 ACAN
30 paraxial mesoderm morphogenesis GO:0048340 9.37 SMAD3 SMAD2
31 transforming growth factor beta receptor signaling pathway GO:0007179 9.35 TGFB3 SMAD7 SMAD3 SMAD2 COL1A2
32 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.02 TGFB3 SMAD7 SMAD3 SMAD2 ASPN

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.84 TGFB3 SPTA1 SMAD3 SMAD2
2 SMAD binding GO:0046332 9.58 SMAD3 SMAD2 COL1A2
3 extracellular matrix structural constituent GO:0005201 9.56 COMP COL2A1 COL1A2 ACAN
4 R-SMAD binding GO:0070412 9.52 SMAD3 SMAD2
5 enhancer binding GO:0035326 9.51 SMAD3 SMAD2
6 transforming growth factor beta receptor binding GO:0005160 9.5 TGFB3 SMAD3 SMAD2
7 platelet-derived growth factor binding GO:0048407 9.49 COL2A1 COL1A2
8 co-SMAD binding GO:0070410 9.48 SMAD3 SMAD2
9 I-SMAD binding GO:0070411 9.46 SMAD7 SMAD2
10 primary miRNA binding GO:0070878 9.43 SMAD3 SMAD2
11 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 9.37 SMAD3 SMAD2
12 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.33 FMOD ASPN ACAN
13 collagen binding GO:0005518 9.26 SMAD7 SMAD3 COMP ASPN
14 type I transforming growth factor beta receptor binding GO:0034713 8.8 TGFB3 SMAD7 SMAD2

Sources for Hypochondrogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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