Achondroplasia (ACH)

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OMIM 57 100800 Disease Ontology 12 DOID:4480 ICD10 33 Q77.4 MeSH 44 D000130 NCIt 50 C34345 SNOMED-CT 68 190584003 205467007 248299001 268273004 268350005 86268005 more Orphanet 59 ORPHA15

UMLS via Orphanet 74 C0001080 MESH via Orphanet 45 D000130 ICD10 via Orphanet 34 Q77.4 MedGen 42 C0001080 KEGG 37 H01749 SNOMED-CT via HPO 69 263681008 230745008 21186006 44057004 708670007 12351004 699222000 47944004 707598004 249671009 402599005 72129000 161857006 312230002 364538006 415690000 415691001 52613005 43476002 398151007 398152000 8011004 19410003 84445001 199612005 22033007 414915002 414916001 95281009 90145001 25816005 5582005 113194005 444879009 414564002 78275009 299331007 125617002 417558002 249710008 61960001 249755001 298710001 more UMLS 73 C0001080 C2930793

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 Agents and Natriuretic Peptide, C-Type have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and spinal cord, and related phenotypes are macrocephaly and obesity

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.

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.

Disease Ontology : ¹² An osteochondrodysplasia that results in dwarfism which has material basis in abnormal ossification of cartilage in located in long bone.

Wikipedia : ⁷⁶ Achondroplasia is a genetic disorder that results in dwarfism. In those with the condition, the arms and... more...

GeneReviews: NBK1152

Clinical features from OMIM:

100800

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Search GEO for disease gene expression data for Achondroplasia.