MCID: HYP041
MIFTS: 40

Hypochondrogenesis

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Hypochondrogenesis

MalaCards integrated aliases for Hypochondrogenesis:

Name: Hypochondrogenesis 12 77 26 30 6 45 15 74
Achondrogenesis Type Ii/hypochondrogenesis 26

Classifications:



External Ids:

Disease Ontology 12 DOID:0080044
MeSH 45 C563007
UMLS 74 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 achondrogenesis, type ii and spondyloepiphyseal dysplasia with congenital joint dislocations, 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 and vertebral column or, and related phenotypes are behavior/neurological and cardiovascular system

Genetics Home Reference : 26 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 : 77 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 38)
# Related Disease Score Top Affiliating Genes
1 achondrogenesis, type ii 31.9 ACAN COL2A1 COMP FMOD LOC105369752 SEMA3A
2 spondyloepiphyseal dysplasia with congenital joint dislocations 31.7 ACAN COL2A1
3 spondyloepiphyseal dysplasia congenita 31.2 ASPN COL1A2 COL2A1 COMP SEMA3A
4 achondrogenesis 10.6
5 epiphyseal dysplasia, multiple, with myopia and conductive deafness 10.3 COL2A1 LOC105369752
6 spondyloperipheral dysplasia 10.3 COL2A1 LOC105369752
7 osteoarthritis with mild chondrodysplasia 10.3 COL2A1 LOC105369752
8 spondyloepimetaphyseal dysplasia, strudwick type 10.3 COL2A1 SEMA3A
9 skeletal dysplasias 10.2 COL2A1 COMP
10 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.2 COL2A1 SEMA3A
11 synovial chondromatosis 10.2 COL2A1 TGFB3
12 diastrophic dysplasia 10.2 COL2A1 COMP
13 achondrogenesis, type ia 10.1 ACAN COL2A1
14 simpson-golabi-behmel syndrome, type 1 10.1 ACAN COL2A1
15 bone chondrosarcoma 10.1 ACAN COMP
16 bone development disease 10.0 COL1A2 COL2A1 COMP
17 bone deterioration disease 10.0 ACAN COL2A1
18 transient arthritis 10.0 ACAN COMP
19 cartilage disease 10.0 ACAN COL2A1 COMP
20 ischemic bone disease 9.9 ACAN COL2A1
21 multiple epiphyseal dysplasia 9.9 ACAN COL2A1 COMP
22 pseudoachondroplasia 9.9 ACAN COMP FMOD
23 bone inflammation disease 9.9 ACAN COL2A1 COMP
24 loeys-dietz syndrome 4 9.9 SMAD3 TGFB3
25 spinal stenosis 9.9 ACAN COL1A2 COL2A1
26 epiphyseal dysplasia, multiple, 1 9.8 ACAN COMP
27 kniest dysplasia 9.8 ASPN COL2A1 COMP FMOD SEMA3A
28 osteoarthritis 9.8 ACAN ASPN COL2A1 COMP
29 scoliosis 9.8 ACAN COL1A2 COL2A1
30 spondylocarpotarsal synostosis syndrome 9.7 COL2A1 SMAD2 SMAD3
31 peyronie's disease 9.7 SMAD3 SMAD7 TGFB3
32 osteochondritis dissecans 9.7 ACAN COMP
33 hypertrophic scars 9.7 SMAD2 SMAD3 TGFB3
34 ureteral disease 9.6 SMAD2 SMAD3 SMAD7
35 nephrogenic systemic fibrosis 9.6 SMAD2 SMAD3 SMAD7
36 urinary tract obstruction 9.6 SMAD2 SMAD3 SMAD7
37 renal fibrosis 9.6 SMAD2 SMAD3 SMAD7
38 keloids 9.4 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 COL1A2 COL2A1 COMP FMOD SEMA3A SMAD2
2 cardiovascular system MP:0005385 10.16 COL1A2 COL2A1 COMP FMOD SEMA3A SMAD2
3 cellular MP:0005384 10.09 COL1A2 COL2A1 COMP FMOD SEMA3A SMAD2
4 growth/size/body region MP:0005378 10.02 COL1A2 COL2A1 COMP FMOD SEMA3A SMAD2
5 immune system MP:0005387 9.91 COL2A1 COMP FMOD SEMA3A SMAD2 SMAD3
6 craniofacial MP:0005382 9.88 COL2A1 FMOD SMAD2 SMAD3 SMAD7 TGFB3
7 digestive/alimentary MP:0005381 9.85 COL2A1 SMAD2 SMAD3 SMAD7 SPTA1 TGFB3
8 integument MP:0010771 9.63 COL1A2 FMOD SMAD2 SMAD3 SMAD7 SPTA1
9 limbs/digits/tail MP:0005371 9.43 COL1A2 COL2A1 COMP FMOD SMAD3 TGFB3
10 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 Study of Skeletal Disorders 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 30

Anatomical Context for Hypochondrogenesis

MalaCards organs/tissues related to Hypochondrogenesis:

42
Bone

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

20
Vertebral Column Or

Publications for Hypochondrogenesis

Articles related to Hypochondrogenesis:

(show all 20)
# 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
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
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. ( 2572591 )
1989
15
Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. ( 3057886 )
1988
16
Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases. ( 3072551 )
1988
17
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. ( 3195588 )
1988
18
Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity. ( 3717210 )
1986
19
Hypochondrogenesis; an additional case. ( 6628450 )
1983
20
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.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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 ACAN COL1A2 COL2A1 SEMA3A TGFB3
2
Show member pathways
12.15 ACAN ASPN COL1A2 COL2A1 COMP FMOD
3
Show member pathways
12.14 SMAD2 SMAD3 SMAD7
4 12.09 SMAD2 SMAD3 TGFB3
5 12.02 SMAD2 SMAD3 TGFB3
6 12 SMAD2 SMAD3 TGFB3
7 12 SMAD2 SMAD3 SMAD7 TGFB3
8
Show member pathways
11.97 COL1A2 COL2A1 COMP
9
Show member pathways
11.91 SMAD2 SMAD3 TGFB3
10
Show member pathways
11.91 SEMA3A SMAD2 SMAD3 SMAD7 TGFB3
11 11.9 SMAD2 SMAD3 TGFB3
12 11.9 COL1A2 SMAD2 SMAD3 SMAD7
13
Show member pathways
11.87 SMAD2 SMAD3 TGFB3
14 11.73 COL1A2 SMAD2 SMAD3 TGFB3
15 11.69 SMAD2 SMAD3 SMAD7 TGFB3
16 11.64 SMAD2 SMAD3 SMAD7 TGFB3
17 11.59 SMAD2 SMAD3 SMAD7
18
Show member pathways
11.57 SMAD2 SMAD3 SMAD7
19 11.54 SMAD2 SMAD3 TGFB3
20 11.51 COL1A2 SMAD2 SMAD3 SMAD7
21 11.46 SMAD2 SMAD3 SMAD7
22
Show member pathways
11.44 SMAD2 SMAD3 TGFB3
23 11.27 SMAD2 SMAD3 SMAD7 TGFB3
24 11.15 SMAD2 SMAD3
25 11.11 SMAD2 SMAD3 TGFB3
26
Show member pathways
11.08 SMAD7 TGFB3
27 11.06 SMAD2 TGFB3
28 11.03 SMAD2 SMAD3
29 11.01 ACAN COL2A1 COMP FMOD
30 10.88 SMAD2 SMAD3
31 10.85 SMAD2 SMAD3
32 10.84 ACAN COL1A2 COL2A1 SEMA3A TGFB3
33 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 region GO:0005576 9.86 ACAN ASPN COL1A2 COL2A1 COMP FMOD
2 extracellular space GO:0005615 9.85 COL1A2 COL2A1 COMP FMOD SEMA3A TGFB3
3 transcription factor complex GO:0005667 9.58 SMAD2 SMAD3 SMAD7
4 extracellular matrix GO:0031012 9.43 ACAN ASPN COL1A2 COL2A1 COMP FMOD
5 SMAD protein complex GO:0071141 9.32 SMAD2 SMAD3
6 collagen-containing extracellular matrix GO:0062023 9.17 ACAN ASPN COL1A2 COL2A1 COMP FMOD
7 heteromeric SMAD protein complex GO:0071144 9.16 SMAD2 SMAD3

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.83 SMAD2 SMAD3 TGFB3
2 extracellular matrix organization GO:0030198 9.78 ACAN COL1A2 COL2A1 COMP
3 wound healing GO:0042060 9.75 SMAD2 SMAD3 TGFB3
4 embryonic cranial skeleton morphogenesis GO:0048701 9.67 SMAD2 SMAD3
5 SMAD protein signal transduction GO:0060395 9.67 SMAD2 SMAD3 TGFB3
6 gastrulation GO:0007369 9.66 SMAD2 SMAD3
7 odontogenesis GO:0042476 9.66 COL1A2 TGFB3
8 positive regulation of bone mineralization GO:0030501 9.65 SMAD3 TGFB3
9 mesoderm formation GO:0001707 9.65 SMAD2 SMAD3
10 skeletal system development GO:0001501 9.65 ACAN COL1A2 COL2A1 COMP SMAD3
11 endoderm development GO:0007492 9.64 SMAD2 SMAD3
12 developmental growth GO:0048589 9.64 SMAD2 SMAD3
13 keratan sulfate biosynthetic process GO:0018146 9.63 ACAN FMOD
14 cell-cell junction organization GO:0045216 9.63 SMAD3 TGFB3
15 adrenal gland development GO:0030325 9.62 SMAD2 SMAD3
16 embryonic pattern specification GO:0009880 9.62 SMAD2 SMAD3
17 cartilage condensation GO:0001502 9.61 ACAN COL2A1
18 signal transduction involved in regulation of gene expression GO:0023019 9.61 SMAD2 SMAD3
19 positive regulation of epithelial to mesenchymal transition GO:0010718 9.61 SMAD2 SMAD3 TGFB3
20 activin receptor signaling pathway GO:0032924 9.6 SMAD2 SMAD3
21 secondary palate development GO:0062009 9.59 SMAD2 TGFB3
22 keratan sulfate catabolic process GO:0042340 9.58 ACAN FMOD
23 ureteric bud development GO:0001657 9.58 SMAD2 SMAD3 SMAD7
24 nodal signaling pathway GO:0038092 9.57 SMAD2 SMAD3
25 primary miRNA processing GO:0031053 9.56 SMAD2 SMAD3
26 embryonic foregut morphogenesis GO:0048617 9.55 SMAD2 SMAD3
27 pericardium development GO:0060039 9.54 SMAD2 SMAD3
28 response to laminar fluid shear stress GO:0034616 9.52 SMAD7 TGFB3
29 SMAD protein complex assembly GO:0007183 9.51 SMAD2 SMAD3
30 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.5 SMAD2 SMAD3 SMAD7
31 regulation of binding GO:0051098 9.46 SMAD2 SMAD3
32 collagen fibril organization GO:0030199 9.46 ACAN COL1A2 COL2A1 FMOD
33 paraxial mesoderm morphogenesis GO:0048340 9.37 SMAD2 SMAD3
34 transforming growth factor beta receptor signaling pathway GO:0007179 9.35 COL1A2 SMAD2 SMAD3 SMAD7 TGFB3
35 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:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.84 SMAD2 SMAD3 SPTA1 TGFB3
2 extracellular matrix structural constituent GO:0005201 9.56 ACAN COL1A2 COL2A1 COMP
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.55 COL1A2 COL2A1
4 SMAD binding GO:0046332 9.54 COL1A2 SMAD2 SMAD3
5 R-SMAD binding GO:0070412 9.52 SMAD2 SMAD3
6 enhancer binding GO:0035326 9.51 SMAD2 SMAD3
7 transforming growth factor beta receptor binding GO:0005160 9.5 SMAD2 SMAD3 TGFB3
8 co-SMAD binding GO:0070410 9.49 SMAD2 SMAD3
9 platelet-derived growth factor binding GO:0048407 9.48 COL1A2 COL2A1
10 I-SMAD binding GO:0070411 9.46 SMAD2 SMAD7
11 primary miRNA binding GO:0070878 9.43 SMAD2 SMAD3
12 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 9.4 SMAD2 SMAD3
13 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.33 ACAN ASPN FMOD
14 collagen binding GO:0005518 9.26 ASPN COMP SMAD3 SMAD7
15 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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