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ACHP
MCID: ACH001
MIFTS: 40
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Acheiropody (ACHP)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Acheiropody:
Characteristics:Orphanet epidemiological data:58
acheiropodia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Brazil),<1/1000000 (Brazil); Age of onset: Antenatal,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
majority of cases occur in brazilian population HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
32
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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NIH Rare Diseases :
52
Acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet. Individuals with this condition are born with complete amputation of the distal humeral epiphysis (end of the upper arm bone) and tibial diaphysis (mid-section of the shin bone), and aplasia (lack of development) of the radius , ulna , fibula , and of all the bones of the hands and feet. The condition appears to affect only the extremities, with no other signs and symptoms reported. It is caused by a defect in the LMBR1 gene and is inherited in an autosomal recessive manner. Walking may be possible for individuals with acheiropody with well-fitted prostheses . With the exception of a couple of affected individuals in Puerto Rico, all other reported cases have occurred in Brazil.
MalaCards based summary : Acheiropody, also known as acheiropodia, is related to congenital amputation and autosomal recessive disease. An important gene associated with Acheiropody is LMBR1 (Limb Development Membrane Protein 1), and among its related pathways/superpathways is Neural Stem Cells and Lineage-specific Markers. The drugs Astragalus and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are abnormality of the metaphysis and abnormality of epiphysis morphology Disease Ontology : 12 An osteochondrodysplasia characterized by a lack of formation of the distal extremities has material basis in mutation in the LMBR1 gene. OMIM : 56 Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001). (200500) KEGG : 36 Acheiropodia is an extremely rare, severe congenital malformation caused by LMBR1 deletion. Patients show malformed upper and lower extremities with amputation of distal limbs and aplasia of hands and feet. It is inherited as an autosomal recessive trait. UniProtKB/Swiss-Prot : 73 Acheiropody: Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet. Wikipedia : 74 Acheiropodia (ACHP), is an autosomal recessive disorder that results in hemimelia, a lack of formation... more... |
Human phenotypes related to Acheiropody:58 31 (showing 18, show less)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:200500 |
Drugs for Acheiropody (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(showing 6, show less)
Interventional clinical trials:(showing 16, show less)
Cochrane evidence based reviews: foot deformities, congenital |
MalaCards organs/tissues related to Acheiropody:40
Bone,
Skin
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Articles related to Acheiropody:(showing 31, show less)
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Genes related to Acheiropody (1 elite genes):(showing 9, show less) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Acheiropody:6 (showing 1, show less)
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Pathways related to Acheiropody according to GeneCards Suite gene sharing:(showing 1, show less)
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Biological processes related to Acheiropody according to GeneCards Suite gene sharing:(showing 8, show less)
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