Aliases & Classifications for Hypochondrogenesis

MalaCards integrated aliases for Hypochondrogenesis:

Name: Hypochondrogenesis 12 72 72 24 28 14 69
Achondrogenesis Type Ii/hypochondrogenesis 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0080044
UMLS 69 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 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 ERK Signaling and Phospholipase-C Pathway. Affiliated tissues include vertebral column or and bone, and related phenotypes are behavior/neurological and cardiovascular system

Genetics Home Reference : 24 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.

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 with congenital joint dislocations 31.6 ACAN COL2A1
2 achondrogenesis, type ii 30.9 ACAN COL11A1 COL2A1 COMP FMOD SEMA3A
3 familial avascular necrosis of the femoral head 10.4 COL2A1 TRPV4
4 marshall syndrome 10.4 COL11A1 COL2A1
5 retinal perforation 10.4 COL11A1 COL2A1
6 otospondylomegaepiphyseal dysplasia 10.4 COL11A1 COL2A1
7 vitreous syneresis 10.4 COL11A1 COL2A1
8 vitreoretinal degeneration 10.4 COL11A1 COL2A1
9 macroglossia 10.4 COL11A1 COL2A1
10 achondrogenesis 10.4
11 vitreoretinal dystrophy 10.4 COL11A1 COL2A1
12 spondyloepimetaphyseal dysplasia, strudwick type 10.3 COL2A1 SEMA3A
13 blood group, i system 10.3
14 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.3 COL2A1 SEMA3A
15 brachyolmia 10.2 COL2A1 TRPV4
16 achondrogenesis, type ia 10.2 ACAN COL2A1
17 diastrophic dysplasia 10.2 COL2A1 COMP
18 synovial chondromatosis 10.2 COL2A1 TGFB3
19 metaphyseal chondrodysplasia, jansen type 10.1 COL2A1 TRPV4
20 skeletal dysplasias 10.1 COL2A1 COMP TRPV4
21 cleft palate, isolated 10.1 COL11A1 COL2A1 TGFB3
22 transient arthritis 10.0 ACAN COMP
23 intervertebral disc disease 10.0 ACAN ASPN COL11A1
24 cartilage disease 9.9 ACAN COL2A1 COMP
25 pseudoachondroplasia 9.9 ACAN COMP FMOD
26 bone inflammation disease 9.9 ACAN COL2A1 COMP
27 bone deterioration disease 9.9 ACAN COL2A1
28 arthropathy 9.8 ACAN COMP TRPV4
29 penile disease 9.8 SMAD2 SMAD3
30 ischemic bone disease 9.7 ACAN COL2A1
31 multiple epiphyseal dysplasia 9.7 ACAN COL11A1 COL2A1 COMP
32 spondyloepiphyseal dysplasia congenita 9.7 ASPN COL11A1 COL2A1 COMP SEMA3A
33 hypertrophic scars 9.5 SMAD2 SMAD3 TGFB3
34 peyronie's disease 9.5 SMAD3 SMAD7 TGFB3
35 nephrogenic systemic fibrosis 9.5 SMAD2 SMAD3 SMAD7
36 ureteral disease 9.5 SMAD2 SMAD3 SMAD7
37 renal fibrosis 9.5 SMAD2 SMAD3 SMAD7
38 kniest dysplasia 9.2 ASPN COL11A1 COL2A1 COMP FMOD SEMA3A
39 keloids 9.2 SMAD2 SMAD3 SMAD7 TGFB3
40 osteoarthritis 9.1 ACAN ASPN COL2A1 COMP SMAD3

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:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 FMOD SMAD7 SEMA3A COL2A1 SMAD2 TGFB3
2 cardiovascular system MP:0005385 10.19 FMOD SMAD7 SEMA3A COL2A1 SMAD2 TGFB3
3 cellular MP:0005384 10.13 FMOD SMAD7 SEMA3A COL2A1 SMAD2 TGFB3
4 growth/size/body region MP:0005378 10.1 FMOD COL11A1 SMAD7 SEMA3A COL2A1 SMAD2
5 immune system MP:0005387 10.07 COL11A1 FMOD SMAD7 SEMA3A COL2A1 SMAD2
6 craniofacial MP:0005382 10.06 COL11A1 SMAD7 COL2A1 SMAD2 TGFB3 ALPL
7 digestive/alimentary MP:0005381 9.98 COL11A1 SMAD7 COL2A1 SMAD2 TGFB3 ALPL
8 limbs/digits/tail MP:0005371 9.92 COL11A1 COL2A1 TGFB3 ALPL COMP SMAD3
9 nervous system MP:0003631 9.86 SMAD3 COL11A1 SEMA3A COL2A1 SMAD2 TGFB3
10 respiratory system MP:0005388 9.7 COL11A1 SEMA3A COL2A1 SMAD2 TGFB3 ALPL
11 skeleton MP:0005390 9.61 FMOD COL11A1 SEMA3A COL2A1 SMAD2 TGFB3
12 vision/eye MP:0005391 9.1 SMAD3 FMOD COL2A1 SMAD2 TGFB3 TRPV4

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 28

Anatomical Context for Hypochondrogenesis

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

18
Vertebral Column Or

MalaCards organs/tissues related to Hypochondrogenesis:

38
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
Cardiac malformation in two infants with hypochondrogenesis. ( 8599352 )
1995
8
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
9
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
10
Localization of the expression of type I, II and III collagen genes in human normal and hypochondrogenesis cartilage canals. ( 7843983 )
1994
11
Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis. ( 1374906 )
1992
12
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. ( 1429602 )
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
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. ( 3195588 )
1988
15
Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases. ( 3072551 )
1988
16
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. ( 3057886 )
1988
17
Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. ( 3717210 )
1986
18
Hypochondrogenesis; an additional case. ( 6628450 )
1983
19
Hypochondrogenesis. ( 6641761 )
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.2320G> A (p.Gly774Ser) single nucleotide variant Pathogenic rs121912867 GRCh37 Chromosome 12, 48375925: 48375925
3 COL2A1 NM_001844.4(COL2A1): c.3158G> A (p.Gly1053Glu) single nucleotide variant Pathogenic rs121912868 GRCh37 Chromosome 12, 48371390: 48371390

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 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 ACAN COL11A1 COL2A1 SEMA3A SMAD2 SMAD3
2
Show member pathways
12.89 ACAN COL11A1 COL2A1 SEMA3A TGFB3
3
Show member pathways
12.15 ACAN ASPN COL11A1 COL2A1 COMP FMOD
4 12.04 SMAD2 SMAD3 TGFB3
5 12.04 ALPL SMAD2 SMAD3 TGFB3
6
Show member pathways
12 SMAD2 SMAD3 TGFB3
7 11.96 SMAD2 SMAD3 TGFB3 TRPV4
8
Show member pathways
11.94 SMAD2 SMAD3 TGFB3
9 11.92 SMAD2 SMAD3 TGFB3
10 11.92 SMAD2 SMAD3 SMAD7
11 11.92 SMAD2 SMAD3 SMAD7 TGFB3
12 11.76 SMAD2 SMAD3 TGFB3
13 11.74 ACAN COL2A1 TGFB3
14
Show member pathways
11.71 SMAD2 SMAD3 TGFB3
15 11.65 SMAD2 SMAD3 SMAD7 TGFB3
16 11.63 SMAD2 SMAD3 SMAD7
17 11.59 SMAD2 SMAD3 SMAD7
18
Show member pathways
11.56 SMAD2 SMAD3 SMAD7
19 11.55 SMAD2 SMAD3 SMAD7 TGFB3
20 11.52 ALPL SMAD2 SMAD3
21 11.5 ACAN ALPL COL2A1
22
Show member pathways
11.46 SMAD2 SMAD3 TGFB3
23 11.43 SMAD2 SMAD3 SMAD7
24 11.27 SMAD2 SMAD3 SMAD7 TGFB3
25 11.16 SMAD2 SMAD3
26
Show member pathways
11.09 SMAD7 TGFB3
27 11.07 SMAD2 TGFB3
28 11.06 SMAD2 SMAD3 TGFB3
29 11.04 SMAD2 SMAD3
30 11.01 ACAN COL2A1 COMP FMOD
31
Show member pathways
10.96 ACAN FMOD
32 10.9 SMAD2 SMAD3
33 10.87 SMAD2 SMAD3
34 10.85 ACAN COL11A1 COL2A1 SEMA3A TGFB3
35 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 9.92 ACAN ALPL COL11A1 COL2A1 COMP FMOD
2 extracellular region GO:0005576 9.81 ACAN ALPL ASPN COL11A1 COL2A1 COMP
3 transcription factor complex GO:0005667 9.58 SMAD2 SMAD3 SMAD7
4 extracellular matrix GO:0031012 9.5 ACAN ASPN COL11A1 COL2A1 COMP FMOD
5 SMAD protein complex GO:0071141 9.37 SMAD2 SMAD3
6 heteromeric SMAD protein complex GO:0071144 9.26 SMAD2 SMAD3
7 proteinaceous extracellular matrix GO:0005578 9.17 ACAN ALPL ASPN COL11A1 COL2A1 COMP

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

(show all 38)
# 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 palate development GO:0060021 9.77 COL2A1 SMAD2 TGFB3
4 gastrulation GO:0007369 9.68 SMAD2 SMAD3
5 mesoderm formation GO:0001707 9.67 SMAD2 SMAD3
6 biomineral tissue development GO:0031214 9.67 ALPL ASPN
7 positive regulation of bone mineralization GO:0030501 9.67 SMAD3 TGFB3
8 SMAD protein signal transduction GO:0060395 9.67 SMAD2 SMAD3 TGFB3
9 developmental growth GO:0048589 9.66 SMAD2 SMAD3
10 endoderm development GO:0007492 9.66 SMAD2 SMAD3
11 keratan sulfate biosynthetic process GO:0018146 9.65 ACAN FMOD
12 embryonic pattern specification GO:0009880 9.65 SMAD2 SMAD3
13 endochondral ossification GO:0001958 9.65 ALPL COL2A1
14 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.64 COL11A1 SMAD7
15 cell-cell junction organization GO:0045216 9.64 SMAD3 TGFB3
16 signal transduction involved in regulation of gene expression GO:0023019 9.63 SMAD2 SMAD3
17 cartilage condensation GO:0001502 9.63 COL11A1 COL2A1
18 chondrocyte development GO:0002063 9.62 ACAN COL11A1
19 activin receptor signaling pathway GO:0032924 9.62 SMAD2 SMAD3
20 transforming growth factor beta receptor signaling pathway GO:0007179 9.62 SMAD2 SMAD3 SMAD7 TGFB3
21 positive regulation of SMAD protein import into nucleus GO:0060391 9.61 SMAD3 TGFB3
22 keratan sulfate catabolic process GO:0042340 9.61 ACAN FMOD
23 positive regulation of epithelial to mesenchymal transition GO:0010718 9.61 SMAD2 SMAD3 TGFB3
24 primary miRNA processing GO:0031053 9.58 SMAD2 SMAD3
25 embryonic foregut morphogenesis GO:0048617 9.58 SMAD2 SMAD3
26 ureteric bud development GO:0001657 9.58 SMAD2 SMAD3 SMAD7
27 pericardium development GO:0060039 9.57 SMAD2 SMAD3
28 SMAD protein complex assembly GO:0007183 9.56 SMAD2 SMAD3
29 response to laminar fluid shear stress GO:0034616 9.55 SMAD7 TGFB3
30 skeletal system development GO:0001501 9.55 ACAN ALPL COL2A1 COMP SMAD3
31 proteoglycan metabolic process GO:0006029 9.54 COL11A1 COL2A1
32 nodal signaling pathway GO:0038092 9.52 SMAD2 SMAD3
33 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.51 COL2A1 TRPV4
34 regulation of binding GO:0051098 9.46 SMAD2 SMAD3
35 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.43 SMAD2 SMAD3 SMAD7
36 paraxial mesoderm morphogenesis GO:0048340 9.37 SMAD2 SMAD3
37 collagen fibril organization GO:0030199 9.26 ACAN COL11A1 COL2A1 FMOD
38 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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