MCID: ACH011
MIFTS: 41

Achondrogenesis malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Achondrogenesis

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10
See all MalaCards sources

Aliases & Descriptions for Achondrogenesis:

Name: Achondrogenesis 10 45 23 12 51
 
Achondrogenesis Syndrome 23

Characteristics:

Orphanet epidemiological data:

51
achondrogenesis:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0080043
Orphanet51 932
ICD10 via Orphanet28 Q77.0
UMLS via Orphanet66 C0001079
ICD1027 Q77.0

Summaries for Achondrogenesis

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NIH Rare Diseases:45 Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.  there are at least three forms of achondrogenesis, type 1a, type 1b and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing.  type 1a and 1b achondrogenesis are both inherited in an autosomal recessive pattern.  type 1b may be caused by mutations in the slc26a2 gene.  type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the col2a1 gene. last updated: 10/18/2013

MalaCards based summary: Achondrogenesis, also known as achondrogenesis syndrome, is related to hypochondrogenesis and achondrogenesis, type ii or hypochondrogenesis, and has symptoms including macrocephaly, malar flattening and long philtrum. An important gene associated with Achondrogenesis is COL2A1 (Collagen Type II Alpha 1), and among its related pathways are ECM-receptor interaction and Protein digestion and absorption. Affiliated tissues include bone, testes and skin, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Disease Ontology:10 An osteochondrodysplasia that has material basis in deficient endochondral ossification which results in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.

Genetics Home Reference:23 Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis usually die before birth, are stillborn, or die soon after birth from respiratory failure. However, some infants have lived for a short time with intensive medical support.

Wikipedia:68 Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia... more...

Related Diseases for Achondrogenesis

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Diseases in the Achondrogenesis family:

Achondrogenesis Ib Achondrogenesis, Type Ia

Diseases related to Achondrogenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1hypochondrogenesis30.4COL2A1, COL9A2, DYNC2H1, FAM120A, SLC26A2, TRIP11
2achondrogenesis, type ii or hypochondrogenesis12.9
3achondrogenesis ib12.8
4achondrogenesis, type ia12.8
5chondrodysplasia, grebe type11.4
6pyknoachondrogenesis11.3
7sed congenita10.3
8adenocarcinoma10.3
9hepatitis10.2
10laryngitis10.2
11leishmaniasis10.2
12visceral leishmaniasis10.2
13hansen's disease10.2
14slc16a1-related hyperinsulinism10.1COL2A1, SLC26A2
15vitreoretinochoroidopathy dominant10.1COL2A1, COL9A2
16skeleto cardiac syndrome with thrombocytopenia10.1COL2A1, SLC26A2
17fucosidosis10.1
18lung cancer10.1
19myelodysplastic syndrome10.1
20wolff-parkinson-white syndrome10.1
21lymphangioleiomyomatosis10.1
22gastroesophageal reflux10.1
23steatocystoma multiplex10.1
24gastric cancer10.1
25glycogen storage disease10.1
26leukemia10.1
27malignant glioma10.1
28chikungunya10.1
29chorioamnionitis10.1
30atrial fibrillation10.1
31sarcoma10.1
32typhus10.1
33endosalpingiosis10.1
34lyme disease10.1
35gastroparesis10.1
36factor viii deficiency10.1
37bell's palsy10.1
38hypercalcemia10.1
39subclavian steal syndrome10.1
40scrub typhus10.1
41kwashiorkor10.1
42pneumothorax10.1
43acanthoma10.1
44impotence10.1
45hepatitis c10.1
46melanoma10.1
47granular cell tumor10.1
48thrombophilia10.1
49basal cell carcinoma10.1
50perivascular epithelioid cell tumor10.1

Graphical network of the top 20 diseases related to Achondrogenesis:



Diseases related to achondrogenesis

Symptoms for Achondrogenesis

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Symptoms:

 51 (show all 23)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • frontal bossing/prominent forehead
  • flat face
  • micrognathia/retrognathia/micrognathism/retrognathism
  • short/small nose
  • anteverted nares/nostrils
  • long philtrum
  • short neck
  • excess nuchal skin without pterygium colli
  • narrow rib cage/thorax
  • short rib cage/thorax
  • short limbs/micromelia/brachymelia
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • abnormal/absent ossification
  • short stature/dwarfism/nanism
  • early death/lethality
  • hydrops fetalis
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • polyhydramnios
  • cystic hygroma
  • congenital cardiac anomaly/malformation/cardiopathy

HPO human phenotypes related to Achondrogenesis:

(show all 20)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 malar flattening hallmark (90%) HP:0000272
3 long philtrum hallmark (90%) HP:0000343
4 micrognathia hallmark (90%) HP:0000347
5 anteverted nares hallmark (90%) HP:0000463
6 short neck hallmark (90%) HP:0000470
7 thickened nuchal skin fold hallmark (90%) HP:0000474
8 narrow chest hallmark (90%) HP:0000774
9 hydrops fetalis hallmark (90%) HP:0001789
10 frontal bossing hallmark (90%) HP:0002007
11 skeletal dysplasia hallmark (90%) HP:0002652
12 micromelia hallmark (90%) HP:0002983
13 short nose hallmark (90%) HP:0003196
14 short stature hallmark (90%) HP:0004322
15 abnormality of bone mineral density hallmark (90%) HP:0004348
16 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
17 short thorax hallmark (90%) HP:0010306
18 umbilical hernia typical (50%) HP:0001537
19 polyhydramnios typical (50%) HP:0001561
20 cystic hygroma occasional (7.5%) HP:0000476

Drugs & Therapeutics for Achondrogenesis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Skeletal Disorders and Short StatureCompletedNCT00001754

Search NIH Clinical Center for Achondrogenesis

Genetic Tests for Achondrogenesis

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Anatomical Context for Achondrogenesis

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MalaCards organs/tissues related to Achondrogenesis:

33
Bone, Testes, Skin, Lung, Brain, T cells, Monocytes

Animal Models for Achondrogenesis or affiliated genes

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MGI Mouse Phenotypes related to Achondrogenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2COL2A1, DYNC2H1, SLC26A2, TRIP11
2MP:00053718.1COL2A1, COL9A2, DYNC2H1, SLC26A2, TRIP11
3MP:00053907.9COL2A1, COL9A2, DYNC2H1, SLC26A2, TRIP11

Publications for Achondrogenesis

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Articles related to Achondrogenesis:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
M2 macrophages and inflammatory cells in oral lesions of chronic paracoccidioidomycosis. (26041558)
2015
2
Plurihormonal pituitary adenoma with concomitant adrenocorticotropic hormone (ACTH) and growth hormone (GH) secretion: a report of two cases and review of the literature. (24081787)
2014
3
Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype. (24353905)
2012
4
Climate change and leptospirosis. (23175421)
2012
5
Human cytomegalovirus and mucoepidermoid carcinoma of salivary glands: cell-specific localization of active viral and oncogenic signaling proteins is confirmatory of a causal relationship. (22101257)
2012
6
Complementary acupuncture in Parkinson's disease: a spect study. (20199208)
2010
7
Dominant negative effects of human follicle-stimulating hormone receptor expression-deficient mutants on wild-type receptor cell surface expression. Rescue of oligomerization-dependent defective receptor expression by using cognate decoys. (20206665)
2010
8
No effect of CYP450 and P-glycoprotein on hydroxyurea in vitro metabolism. (19817872)
2010
9
Regulation of RB transcription in vivo by RB family members. (20100864)
2010
10
Perforated ulcer mimicking a spontaneous pneumothorax in a patient with congenital diaphragmatic hernia. (19385305)
2009
11
Lack of oxygen deactivates mitochondrial complex I: implications for ischemic injury? (19861410)
2009
12
Hypercalcemia of immobilization. (19426949)
2009
13
Invasion associated up-regulation of nuclear factor kappaB target genes in colorectal cancer. (19658179)
2009
14
Bone morphogenetic proteins signal through the transforming growth factor-beta type III receptor. (18184661)
2008
15
Prostatic transitional cell carcinoma: pathologic features and clinical management. (18028024)
2007
16
Non-HFE haemochromatosis. (17729390)
2007
17
Neurogenic effect of vascular endothelial growth factor during germ layer formation of human embryonic stem cells. (17027979)
2006
18
NAT2, meat consumption and colorectal cancer incidence: an ecological study among 27 countries. (17006723)
2006
19
Cenp-F (mitosin) is more than a mitotic marker. (16565862)
2006
20
Interleukin-6 induction of protein s is regulated through signal transducer and activator of transcription 3. (16840717)
2006
21
Different isoforms of the Wilms' tumour protein WT1 have distinct patterns of distribution and trafficking within the nucleus. (17109636)
2006
22
Regulation of phosphatidylinositol 3-kinase by polyisoprenyl phosphates in neutrophil-mediated tissue injury. (16567384)
2006
23
Pulmonary edema related to administration of 15-methyl-prostaglandin F2alpha during a cesarean section]. (15072404)
2004
24
Antiviral therapy in patients with chronic hepatitis B and cirrhosis. (15324948)
2004
25
SLV-308. Solvay. (14619412)
2003
26
Proposed lipocalin fold for apolipoprotein M based on bioinformatics and site-directed mutagenesis. (11418126)
2001
27
The central role of the P(2T) receptor in amplification of human platelet activation, aggregation, secretion and procoagulant activity. (11054084)
2000
28
Keratin 17 expression in the hard epithelial context of the hair and nail, and its relevance for the pachyonychia congenita phenotype. (10844551)
2000
29
Relationship between cardiovascular risk profile and anti-hypertensive drug use. GEDEC (Spanish group of cardiovascular studies]. (10934691)
2000
30
Orthostatic proteinuria as a result of venous compression (nutcracker phenomenon)--a hypothesis testable with modern imaging techniques. (10328451)
1999
31
rHuEpo for the treatment of anemia in myelofibrosis with myeloid metaplasia. Experience in 6 patients and meta-analytical approach. (9718866)
1998
32
The Fanconi anemia group C gene product is located in both the nucleus and cytoplasm of human cells. (9454773)
1998
33
alpha2beta1 integrin signaling via the mitogen activated protein kinase pathway modulates retinoic acid-dependent tumor cell invasion and transcriptional downregulation of matrix metalloproteinase 9 activity. (9824620)
1998
34
Role of nitric oxide in retinal cell death. (9292247)
1997
35
Characterization of the receptor binding sites of human leukemia inhibitory factor and creation of antagonists. (8662595)
1996
36
Prospects for the immunological control of ruminant gastrointestinal nematodes: natural immunity, can it be harnessed? (8923129)
1996
37
Ofuji's disease and cytokines: Remission of eosinophilic pustular folliculitis associated with increased serum concentrations of interferon gamma. (8832945)
1996
38
Cytokine regulation of monocyte recruitment. (8744731)
1995
39
Soluble serum interleukin-2 receptor, interleukin-6 and interleukin-1a in patients with endometriosis and in controls. (7979562)
1994
40
Expression of p21 ras protein as a prognostic factor in papillary thyroid cancer. (7908818)
1994
41
Protein kinase C mediates down-regulation of cystic fibrosis transmembrane conductance regulator levels in epithelial cells. (7686146)
1993
42
Purification of peroxisomes and subcellular distribution of enzyme activities for activation and oxidation of very-long-chain fatty acids in rat brain. (8399326)
1993
43
Chloroquine inhibits intracellular degradation but not secretion of Alzheimer beta/A4 amyloid precursor protein. (1549591)
1992
44
Inpatient management of status asthmaticus. (1424857)
1992
45
Epidemic multiple chemical sensitivity in an industrial setting. (1412492)
1992
46
Walker-Warburg syndrome with skeletal muscle involvement. A report of three patients. (3454442)
1987
47
Ultrasonic diagnosis of prune-belly syndrome. (7078890)
1982
48
Genetics of audiogenic seizures. 3. Time response relationships between drug administration and seizure susceptibility. (4394568)
1970
49
Coccygodynia; an analysis of 100 cases. (13621015)
1959
50

Variations for Achondrogenesis

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Expression for genes affiliated with Achondrogenesis

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Search GEO for disease gene expression data for Achondrogenesis.

Pathways for genes affiliated with Achondrogenesis

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Pathways related to Achondrogenesis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5COL2A1, COL9A2
29.5COL2A1, COL9A2
39.3DYNC2H1, TRIP11

GO Terms for genes affiliated with Achondrogenesis

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

idNameGO IDScoreTop Affiliating Genes
1ossificationGO:00015039.8COL2A1, SLC26A2
2skeletal system developmentGO:00015019.7COL2A1, COL9A2
3extracellular matrix disassemblyGO:00226179.5COL2A1, COL9A2

Sources for Achondrogenesis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet