Aliases & Classifications for Hypochondrogenesis

MalaCards integrated aliases for Hypochondrogenesis:

Name: Hypochondrogenesis 12 76 25 29 6 15 73
Achondrogenesis Type Ii/hypochondrogenesis 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0080044
UMLS 73 C0542428

Summaries for Hypochondrogenesis

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.

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 Phospholipase-C Pathway and Degradation of the extracellular matrix. Affiliated tissues include vertebral column or and bone, and related phenotypes are behavior/neurological and cardiovascular system

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.

Wikipedia : 76 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 40)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia congenita 30.6 ASPN COL11A1 COL2A1 COMP SEMA3A
2 achondrogenesis, type ii 29.5 ACAN COL11A1 COL2A1 COMP FMOD LOC105369752
3 spondyloepiphyseal dysplasia with congenital joint dislocations 10.9
4 epiphyseal dysplasia, multiple, with myopia and conductive deafness 10.8 COL2A1 LOC105369752
5 spondyloperipheral dysplasia 10.7 COL2A1 LOC105369752
6 osteoarthritis with mild chondrodysplasia 10.7 COL2A1 LOC105369752
7 familial avascular necrosis of the femoral head 10.7 COL2A1 TRPV4
8 marshall syndrome 10.7 COL11A1 COL2A1
9 retinal perforation 10.7 COL11A1 COL2A1
10 otospondylomegaepiphyseal dysplasia 10.6 COL11A1 COL2A1
11 vitreous syneresis 10.6 COL11A1 COL2A1
12 macroglossia 10.6 COL11A1 COL2A1
13 vitreoretinal dystrophy 10.6 COL11A1 COL2A1
14 vitreoretinal degeneration 10.5 COL11A1 COL2A1
15 spondyloepimetaphyseal dysplasia, strudwick type 10.4 COL2A1 LOC105369752 SEMA3A
16 achondrogenesis 10.4
17 achondrogenesis, type ia 10.2 ACAN COL2A1
18 synovial chondromatosis 10.2 COL2A1 TGFB3
19 type i 10.1
20 skeletal dysplasias 10.1 COL2A1 COMP TRPV4
21 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.1 COL2A1 SEMA3A
22 cleft palate, isolated 10.0 COL11A1 COL2A1 TGFB3
23 brachydactyly 10.0 COL2A1 COMP TRPV4
24 brachyolmia 9.9 COL2A1 TRPV4
25 cartilage disease 9.9 ACAN COL2A1 COMP
26 multiple epiphyseal dysplasia 9.8 ACAN COL2A1 COMP
27 bone inflammation disease 9.8 ACAN COL2A1 COMP
28 transient arthritis 9.8 ACAN COMP
29 pseudoachondroplasia 9.8 ACAN COMP FMOD
30 arthropathy 9.6 ACAN COMP TRPV4
31 bone disease 9.6 ACAN ALPL COL2A1
32 penile disease 9.6 SMAD2 SMAD3
33 osteoarthritis 9.5 ACAN ASPN COL2A1 COMP
34 hypertrophic scars 9.3 SMAD2 SMAD3 TGFB3
35 peyronie's disease 9.3 SMAD3 SMAD7 TGFB3
36 nephrogenic systemic fibrosis 9.2 SMAD2 SMAD3 SMAD7
37 ureteral disease 9.2 SMAD2 SMAD3 SMAD7
38 renal fibrosis 9.1 SMAD2 SMAD3 SMAD7
39 kniest dysplasia 8.7 ASPN COL11A1 COL2A1 COMP FMOD SEMA3A
40 keloids 8.7 SMAD2 SMAD3 SMAD7 TGFB3

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 10.18 SEMA3A COL2A1 SMAD2 COMP ALPL FMOD
2 cardiovascular system MP:0005385 10.16 COL2A1 SMAD2 COMP ALPL FMOD SEMA3A
3 cellular MP:0005384 10.09 SEMA3A COL2A1 COMP ALPL FMOD SMAD7
4 growth/size/body region MP:0005378 10.02 COL11A1 SEMA3A COL2A1 COMP ALPL FMOD
5 craniofacial MP:0005382 10.01 COL2A1 SMAD2 ALPL FMOD COL11A1 TGFB3
6 immune system MP:0005387 9.96 SEMA3A COL2A1 SMAD2 COMP ALPL FMOD
7 digestive/alimentary MP:0005381 9.91 COL11A1 COL2A1 ALPL TGFB3 SMAD2 SMAD3
8 limbs/digits/tail MP:0005371 9.76 COL2A1 COMP ALPL FMOD ASPN COL11A1
9 respiratory system MP:0005388 9.5 SEMA3A COL2A1 SMAD2 ALPL COL11A1 TGFB3
10 skeleton MP:0005390 9.28 COL2A1 SMAD2 COMP ALPL FMOD COL11A1

Drugs & Therapeutics for Hypochondrogenesis

Interventional clinical trials:


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

Search NIH Clinical Center for 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 Or

MalaCards organs/tissues related to Hypochondrogenesis:

41
Bone

Publications for Hypochondrogenesis

Articles related to Hypochondrogenesis:

(show all 19)
# Title Authors Year
1
Visceral manifestations of hypochondrogenesis. ( 18642028 )
2008
2
Hypochondrogenesis. ( 16432703 )
2006
3
Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report. ( 11956729 )
2002
4
[Achondrogenesis type II-hypochondrogenesis: radiological features.Case report]. ( 11730591 )
2001
5
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. ( 10797431 )
2000
6
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. ( 8723098 )
1996
7
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
8
Cardiac malformation in two infants with hypochondrogenesis. ( 8599352 )
1995
9
Localization of the expression of type I, II and III collagen genes in human normal and hypochondrogenesis cartilage canals. ( 7843983 )
1994
10
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. ( 8175802 )
1994
11
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. ( 1429602 )
1992
12
Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis. ( 1374906 )
1992
13
Quantitative histology of cartilage vascular canals in the human rib. Findings in normal neonates and children and in achondrogenesis II-hypochondrogenesis. ( 2074231 )
1990
14
Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases. ( 3072551 )
1988
15
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. ( 3195588 )
1988
16
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. ( 3057886 )
1988
17
Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. ( 3717210 )
1986
18
Hypochondrogenesis. ( 6641761 )
1983
19
Hypochondrogenesis; an additional case. ( 6628450 )
1983

Variations for Hypochondrogenesis

ClinVar genetic disease variations for Hypochondrogenesis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.3220G> A (p.Gly1074Ser) single nucleotide variant Pathogenic rs121912864 GRCh37 Chromosome 12, 48371156: 48371156
2 COL2A1 NM_001844.4(COL2A1): c.3220G> A (p.Gly1074Ser) single nucleotide variant Pathogenic rs121912864 GRCh38 Chromosome 12, 47977373: 47977373
3 COL2A1 NM_001844.4(COL2A1): c.2320G> A (p.Gly774Ser) single nucleotide variant Pathogenic rs121912867 GRCh37 Chromosome 12, 48375925: 48375925
4 COL2A1 NM_001844.4(COL2A1): c.2320G> A (p.Gly774Ser) single nucleotide variant Pathogenic rs121912867 GRCh38 Chromosome 12, 47982142: 47982142
5 COL2A1 NM_001844.4(COL2A1): c.3158G> A (p.Gly1053Glu) single nucleotide variant Pathogenic rs121912868 GRCh37 Chromosome 12, 48371390: 48371390
6 COL2A1 NM_001844.4(COL2A1): c.3158G> A (p.Gly1053Glu) single nucleotide variant Pathogenic rs121912868 GRCh38 Chromosome 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 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 ACAN COL11A1 COL2A1 SEMA3A TGFB3
2
Show member pathways
12.15 ACAN ASPN COL11A1 COL2A1 COMP FMOD
3
Show member pathways
12.1 SMAD2 SMAD3 TGFB3
4 12.06 ALPL SMAD2 SMAD3 TGFB3
5 12.03 SMAD2 SMAD3 TGFB3
6 11.98 SMAD2 SMAD3 TGFB3 TRPV4
7
Show member pathways
11.93 SMAD2 SMAD3 TGFB3
8 11.92 SMAD2 SMAD3 SMAD7 TGFB3
9 11.91 SMAD2 SMAD3 TGFB3
10 11.9 SMAD2 SMAD3 SMAD7
11
Show member pathways
11.87 SEMA3A SMAD2 SMAD3 SMAD7 TGFB3
12 11.75 SMAD2 SMAD3 TGFB3
13 11.65 SMAD2 SMAD3 SMAD7 TGFB3
14 11.63 SMAD2 SMAD3 SMAD7
15 11.59 SMAD2 SMAD3 SMAD7
16
Show member pathways
11.57 SMAD2 SMAD3 SMAD7
17 11.55 SMAD2 SMAD3 SMAD7 TGFB3
18 11.53 ALPL SMAD2 SMAD3
19 11.51 ACAN ALPL COL2A1
20 11.45 SMAD2 SMAD3 SMAD7
21
Show member pathways
11.32 SMAD2 SMAD3
22 11.27 SMAD2 SMAD3 SMAD7 TGFB3
23 11.14 SMAD2 SMAD3
24
Show member pathways
11.07 SMAD7 TGFB3
25 11.06 SMAD2 SMAD3 TGFB3
26 11.05 SMAD2 TGFB3
27 11.02 SMAD2 SMAD3
28 11.01 ACAN COL2A1 COMP FMOD
29
Show member pathways
10.94 ACAN FMOD
30 10.88 SMAD2 SMAD3
31 10.85 SMAD2 SMAD3
32 10.78 ACAN ASPN COMP FMOD TGFB3

GO Terms for Hypochondrogenesis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.87 ALPL COL11A1 COL2A1 COMP FMOD SEMA3A
2 extracellular region GO:0005576 9.81 ACAN ALPL ASPN COL11A1 COL2A1 COMP
3 SMAD protein complex GO:0071141 9.26 SMAD2 SMAD3
4 extracellular matrix GO:0031012 9.17 ACAN ASPN COL11A1 COL2A1 COMP FMOD
5 heteromeric SMAD protein complex GO:0071144 8.96 SMAD2 SMAD3

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.78 ACAN COL11A1 COL2A1 COMP
2 wound healing GO:0042060 9.77 SMAD2 SMAD3 TGFB3
3 roof of mouth development GO:0060021 9.73 COL2A1 SMAD2 TGFB3
4 SMAD protein signal transduction GO:0060395 9.67 SMAD2 SMAD3 TGFB3
5 endoderm development GO:0007492 9.66 SMAD2 SMAD3
6 keratan sulfate biosynthetic process GO:0018146 9.65 ACAN FMOD
7 developmental growth GO:0048589 9.65 SMAD2 SMAD3
8 embryonic pattern specification GO:0009880 9.65 SMAD2 SMAD3
9 endochondral ossification GO:0001958 9.64 ALPL COL2A1
10 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.64 COL11A1 SMAD7
11 cell-cell junction organization GO:0045216 9.63 SMAD3 TGFB3
12 signal transduction involved in regulation of gene expression GO:0023019 9.63 SMAD2 SMAD3
13 cartilage condensation GO:0001502 9.62 COL11A1 COL2A1
14 activin receptor signaling pathway GO:0032924 9.62 SMAD2 SMAD3
15 secondary palate development GO:0062009 9.61 SMAD2 TGFB3
16 keratan sulfate catabolic process GO:0042340 9.61 ACAN FMOD
17 positive regulation of epithelial to mesenchymal transition GO:0010718 9.61 SMAD2 SMAD3 TGFB3
18 nodal signaling pathway GO:0038092 9.59 SMAD2 SMAD3
19 primary miRNA processing GO:0031053 9.58 SMAD2 SMAD3
20 pericardium development GO:0060039 9.58 SMAD2 SMAD3
21 ureteric bud development GO:0001657 9.58 SMAD2 SMAD3 SMAD7
22 embryonic foregut morphogenesis GO:0048617 9.57 SMAD2 SMAD3
23 transforming growth factor beta receptor signaling pathway GO:0007179 9.56 SMAD2 SMAD3 SMAD7 TGFB3
24 SMAD protein complex assembly GO:0007183 9.55 SMAD2 SMAD3
25 proteoglycan metabolic process GO:0006029 9.54 COL11A1 COL2A1
26 collagen fibril organization GO:0030199 9.54 COL11A1 COL2A1 FMOD
27 response to laminar fluid shear stress GO:0034616 9.52 SMAD7 TGFB3
28 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.51 COL2A1 TRPV4
29 regulation of binding GO:0051098 9.46 SMAD2 SMAD3
30 skeletal system development GO:0001501 9.35 ACAN ALPL COL2A1 COMP SMAD3
31 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.33 SMAD2 SMAD3 SMAD7
32 paraxial mesoderm morphogenesis GO:0048340 9.32 SMAD2 SMAD3
33 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.02 ASPN SMAD2 SMAD3 SMAD7 TGFB3

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

# Name GO ID Score Top Affiliating Genes
1 R-SMAD binding GO:0070412 9.48 SMAD2 SMAD3
2 enhancer binding GO:0035326 9.46 SMAD2 SMAD3
3 extracellular matrix structural constituent GO:0005201 9.46 ACAN COL11A1 COL2A1 COMP
4 co-SMAD binding GO:0070410 9.43 SMAD2 SMAD3
5 transforming growth factor beta receptor binding GO:0005160 9.43 SMAD2 SMAD3 TGFB3
6 I-SMAD binding GO:0070411 9.4 SMAD2 SMAD7
7 primary miRNA binding GO:0070878 9.37 SMAD2 SMAD3
8 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 9.32 SMAD2 SMAD3
9 collagen binding GO:0005518 9.26 ASPN COMP SMAD3 SMAD7
10 type I transforming growth factor beta receptor binding GO:0034713 8.8 SMAD2 SMAD7 TGFB3

Sources for Hypochondrogenesis

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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