Aliases & Classifications for Hypochondrogenesis

MalaCards integrated aliases for Hypochondrogenesis:

Name: Hypochondrogenesis 12 72 25 29 14 69
Achondrogenesis Type Ii/hypochondrogenesis 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0080044

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 or hypochondrogenesis and sed congenita. 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 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 : 72 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 43)
id Related Disease Score Top Affiliating Genes
1 achondrogenesis, type ii or hypochondrogenesis 31.3 ASPN COL11A1 COL2A1 COMP FMOD SEMA3A
2 sed congenita 10.8
3 marshall syndrome 10.7 COL11A1 COL2A1
4 familial caudal dysgenesis 10.7 COL2A1 TRPV4
5 craniodiaphyseal dysplasia 10.6 COL11A1 COL2A1
6 plantar nerve lesion 10.6 COL11A1 COL2A1
7 moyamoya disease 10.6 COL11A1 COL2A1
8 ureter cancer 10.6 COL11A1 COL2A1
9 epiphyseal dysplasia, multiple, with myopia and deafness 10.6 COL2A1 SEMA3A
10 wagner syndrome 10.6 COL11A1 COL2A1
11 adult-onset still's disease 10.6 COL11A1 COL2A1
12 laryngomalacia 10.5 COL11A1 COL2A1
13 legg-calve-perthes disease 10.5 COL2A1 TRPV4
14 leber congenital amaurosis 3 10.4 ACAN COL2A1
15 hemolytic anemia due to glutathione synthetase deficiency 10.4 ASPN COL2A1 COMP
16 malignant pleural solitary fibrous tumor 10.4 COL2A1 TRPV4
17 syringobulbia 10.3 COL2A1 TGFB3
18 achondrogenesis 10.3
19 skin fragility-woolly hair-palmoplantar keratoderma syndrome 10.3 COL2A1 COMP TRPV4
20 myasthenic syndrome, congenital, 2a, slow-channel 10.2 COL11A1 COL2A1 TGFB3
21 atelosteogenesis ii 10.2 COL2A1 COMP
22 vulvar sarcoma 10.1 ACAN COMP
23 cerebral hemorrhage 10.1 ACAN COL2A1 COMP
24 gnas hyperfunction 10.1 SMAD3 TGFB3
25 bone structure disease 10.1 ACAN COL2A1
26 mesenchymal cell neoplasm 10.1 ACAN COL2A1 COMP
27 clubfoot 10.0 COL11A1 COL2A1 FMOD
28 glossopharyngeal nerve paralysis 10.0 ACAN COMP TRPV4
29 myopathy with extrapyramidal signs 10.0 ACAN COL2A1
30 polyglucosan body disease, adult form 10.0 COL2A1 TRPV4
31 intermediate uveitis 9.8 ACAN COL11A1 COL2A1 COMP
32 slc6a4-related altered drug metabolism 9.8 ACAN COL2A1 COMP TRPV4
33 twin-to-twin transfusion syndrome 9.8 SMAD3 SMAD7 TGFB3
34 sulfite oxidase deficiency 9.8 ASPN COL11A1 COL2A1 COMP SEMA3A
35 urticaria 9.7 SMAD2 SMAD3
36 congenital methemoglobinemia 9.4 SMAD2 SMAD3 TGFB3
37 pulmonary valve insufficiency 9.3 SMAD2 SMAD3 SMAD7
38 nephrotic syndrome, idiopathic, steroid-resistant 9.3 SMAD2 SMAD3 SMAD7
39 perrault syndrome 9.3 SMAD2 SMAD3 SMAD7
40 osteochondrosis 9.2 ACAN ASPN COL2A1 COMP SMAD3
41 keratopathy 9.0 SMAD2 SMAD3 SMAD7 TGFB3
42 smed strudwick type 8.6 ACAN COL11A1 COL2A1 COMP FMOD SEMA3A
43 acromesomelic dysplasia 5.7 ACAN ALPL ASPN COL11A1 COL2A1 COMP

Graphical network of the top 20 diseases related to Hypochondrogenesis:



Diseases related to Hypochondrogenesis

Symptoms & Phenotypes for Hypochondrogenesis

MGI Mouse Phenotypes related to Hypochondrogenesis:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.19 SMAD7 TGFB3 TRPV4 ALPL COL2A1 COMP
2 cardiovascular system MP:0005385 10.18 ALPL COL2A1 COMP FMOD SEMA3A SMAD2
3 growth/size/body region MP:0005378 10.1 COL11A1 COL2A1 COMP FMOD SEMA3A SMAD2
4 immune system MP:0005387 10.07 ALPL COL11A1 COL2A1 COMP FMOD SEMA3A
5 craniofacial MP:0005382 10.06 SMAD3 SMAD7 TGFB3 ALPL COL11A1 COL2A1
6 digestive/alimentary MP:0005381 9.98 ALPL COL11A1 COL2A1 SMAD2 SMAD3 SMAD7
7 limbs/digits/tail MP:0005371 9.92 ALPL ASPN COL11A1 COL2A1 COMP FMOD
8 nervous system MP:0003631 9.86 ALPL COL11A1 COL2A1 SEMA3A SMAD2 SMAD3
9 respiratory system MP:0005388 9.7 ALPL COL11A1 COL2A1 SEMA3A SMAD2 TGFB3
10 skeleton MP:0005390 9.61 ALPL COL11A1 COL2A1 COMP FMOD SEMA3A
11 vision/eye MP:0005391 9.1 COL2A1 FMOD SMAD2 SMAD3 TGFB3 TRPV4

Drugs & Therapeutics for Hypochondrogenesis

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Hypochondrogenesis 29

Anatomical Context for Hypochondrogenesis

MalaCards organs/tissues related to Hypochondrogenesis:

39
Bone

Publications for Hypochondrogenesis

Articles related to Hypochondrogenesis:

(show all 19)
id 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: morphologic and immunohistopathologic studies. ( 3057886 )
1988
16
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. ( 3195588 )
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
id 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 30)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 ACAN COL11A1 COL2A1 SEMA3A TGFB3
2
Show member pathways
12.15 ACAN ASPN COL11A1 COL2A1 COMP FMOD
3 12.02 SMAD2 SMAD3 TGFB3
4 12.02 ALPL SMAD2 SMAD3 TGFB3
5
Show member pathways
11.93 SMAD2 SMAD3 TGFB3
6 11.92 SMAD2 SMAD3 SMAD7 TGFB3
7 11.9 SMAD2 SMAD3 TGFB3
8 11.9 SMAD2 SMAD3 SMAD7
9 11.75 SMAD2 SMAD3 TGFB3
10
Show member pathways
11.74 SMAD2 SMAD3 TGFB3
11 11.73 ACAN COL2A1 TGFB3
12 11.67 SMAD2 SMAD3 SMAD7 TGFB3
13 11.61 SMAD2 SMAD3 SMAD7
14 11.57 SMAD2 SMAD3 SMAD7
15
Show member pathways
11.55 SMAD2 SMAD3 SMAD7
16 11.55 SMAD2 SMAD3 SMAD7 TGFB3
17 11.51 ALPL SMAD2 SMAD3
18 11.48 ACAN ALPL COL2A1
19
Show member pathways
11.45 SMAD2 SMAD3 TGFB3
20 11.42 SMAD2 SMAD3 SMAD7
21 11.27 SMAD2 SMAD3 SMAD7 TGFB3
22 11.14 SMAD2 SMAD3
23
Show member pathways
11.07 SMAD7 TGFB3
24 11.06 SMAD2 SMAD3 TGFB3
25 11.05 SMAD2 TGFB3
26 11.04 ACAN COL2A1 COMP FMOD
27 11.02 SMAD2 SMAD3
28 10.89 SMAD2 SMAD3
29 10.85 SMAD2 SMAD3
30 10.78 ACAN ASPN COMP FMOD TGFB3

GO Terms for Hypochondrogenesis

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

id 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 proteinaceous extracellular matrix GO:0005578 9.5 ACAN ALPL ASPN COL11A1 COL2A1 COMP
5 SMAD protein complex GO:0071141 9.37 SMAD2 SMAD3
6 SMAD2-SMAD3 protein complex GO:0071144 9.26 SMAD2 SMAD3
7 extracellular matrix GO:0031012 9.17 ACAN ASPN COL11A1 COL2A1 COMP FMOD

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

(show all 33)
id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.78 ACAN COL11A1 COL2A1 COMP
2 palate development GO:0060021 9.77 COL2A1 SMAD2 TGFB3
3 SMAD protein signal transduction GO:0060395 9.67 SMAD2 SMAD3 TGFB3
4 endoderm development GO:0007492 9.66 SMAD2 SMAD3
5 developmental growth GO:0048589 9.65 SMAD2 SMAD3
6 keratan sulfate biosynthetic process GO:0018146 9.65 ACAN FMOD
7 embryonic pattern specification GO:0009880 9.65 SMAD2 SMAD3
8 endochondral ossification GO:0001958 9.64 ALPL COL2A1
9 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.64 COL11A1 SMAD7
10 cell-cell junction organization GO:0045216 9.63 SMAD3 TGFB3
11 signal transduction involved in regulation of gene expression GO:0023019 9.63 SMAD2 SMAD3
12 cartilage condensation GO:0001502 9.62 COL11A1 COL2A1
13 chondrocyte development GO:0002063 9.62 ACAN COL11A1
14 transforming growth factor beta receptor signaling pathway GO:0007179 9.62 SMAD2 SMAD3 SMAD7 TGFB3
15 activin receptor signaling pathway GO:0032924 9.61 SMAD2 SMAD3
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 wound healing GO:0042060 9.6 SMAD3 TGFB3
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 SMAD protein complex assembly GO:0007183 9.56 SMAD2 SMAD3
24 response to laminar fluid shear stress GO:0034616 9.55 SMAD7 TGFB3
25 skeletal system development GO:0001501 9.55 ACAN ALPL COL2A1 COMP SMAD3
26 proteoglycan metabolic process GO:0006029 9.54 COL11A1 COL2A1
27 nodal signaling pathway GO:0038092 9.52 SMAD2 SMAD3
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 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.43 SMAD2 SMAD3 SMAD7
31 paraxial mesoderm morphogenesis GO:0048340 9.37 SMAD2 SMAD3
32 collagen fibril organization GO:0030199 9.26 ACAN COL11A1 COL2A1 FMOD
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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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