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ACH
MCID: ACH004
MIFTS: 68
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Achondroplasia (ACH)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Achondroplasia:
Characteristics:Orphanet epidemiological data:59
achondroplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Italy),1-9/100000 (Sweden),1-9/100000 (Spain),1-9/100000 (Denmark),1-9/100000 (United States),1-9/100000 (Latin America),1-9/100000 (Australia); Age of onset: Neonatal; Age of death: elderly; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
autosomal dominant with complete penetrance 80% cases new mutations 99+% of the mutations are fgfr3, g380r paternal age effect HPO:32GeneReviews:24
Penetrance
Penetrance is 100%; all individuals who have an fgfr3 heterozygous pathogenic variant associated with achondroplasia have the clinical manifestations of the disorder...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Neuronal diseases
ICD10:
33
34
External Ids:
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NIH Rare Diseases
:
53
Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size (macrocephaly), small fingers, and normal intelligence. Achondroplasia can cause health complications such as interruption of breathing (apnea), obesity, recurrent ear infections, an exaggerated inward curve of the lumbar spine (lordosis). More serious problems include a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord (spinal stenosis) and a buildup of fluid in the brain (hydrocephalus). Some people with achondroplasia may have delayed motor development early on, but cognition is normal. Achondroplasia is caused by mutations in the FGFR3 gene. Inheritance is autosomal dominant. Treatment may include medication with growth hormone, and surgery aimed to correct the spine, or bone problems, as well, as to reduce the pressure inside the brain in cases of hydrocephaly.Prognosis with achondroplasia is good except in cases of y spinal compression at the neck.
MalaCards based summary : Achondroplasia, also known as ach, is related to hypochondroplasia and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. The drugs Natriuretic Peptide, C-Type and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and spinal cord, and related phenotypes are macrocephaly and obesity Disease Ontology : 12 An osteochondrodysplasia that results in dwarfism which has material basis in abnormal ossification of cartilage in located in long bone. Genetics Home Reference : 25 Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe. OMIM : 57 Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995). (100800) UniProtKB/Swiss-Prot : 75 Achondroplasia: A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease. Wikipedia : 76 Achondroplasia is a genetic disorder that results in dwarfism. In those with the condition, the arms and... more...
GeneReviews:
NBK1152
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:100800Human phenotypes related to Achondroplasia:59 32 (show top 50) (show all 61)
MGI Mouse Phenotypes related to Achondroplasia:46 (show all 11)
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Drugs for Achondroplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:(show all 17)
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MalaCards organs/tissues related to Achondroplasia:41
Bone,
Brain,
Spinal Cord,
Smooth Muscle,
Lung,
Heart,
Testes
The Foundational Model of Anatomy Ontology organs/tissues related to Achondroplasia:19
Long Bone
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Articles related to Achondroplasia:(show top 50) (show all 1449)
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Genes related to Achondroplasia (1 elite genes):(show all 12) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:75
ClinVar genetic disease variations for Achondroplasia:6 (show all 18)
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Search
GEO
for disease gene expression data for Achondroplasia.
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Pathways related to Achondroplasia according to GeneCards Suite gene sharing:(show all 42)
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Cellular components related to Achondroplasia according to GeneCards Suite gene sharing:
Biological processes related to Achondroplasia according to GeneCards Suite gene sharing:(show all 41)
Molecular functions related to Achondroplasia according to GeneCards Suite gene sharing:(show all 11)
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