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Acheiropodia

Also Known As:

Acheiropody; Acheiropody, Brazilian type; Brazilian type acheiropody

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Roberts Syndrome

Experts

1.	Ahituv, Nadav: 1 article (01/2021)
2.	Bamshad, Michael J: 1 article (01/2021)
3.	Georgakopoulos-Soares, Ilias: 1 article (01/2021)
4.	Jamieson, Kirsty: 1 article (01/2021)
5.	Kane, Lauren: 1 article (01/2021)
6.	Lettice, Laura A: 1 article (01/2021)
7.	Nickerson, Deborah A: 1 article (01/2021)
8.	Petit, Florence: 1 article (01/2021)
9.	Shen, Yin: 1 article (01/2021)
10.	Silveira-Lucas, Elizabeth Lemos: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Acheiropodia:

1.	GlycosaminoglycansIBA 08/01/1977 - "[Urinary mucopolysaccharides in acheiropodia]." 01/01/1977 - "Urinary mucopolysaccharides in acheiropodia." 01/01/1977 - "Urinary mucopolysaccharides from three patients with acheiropodia were qualitatively and quantitatively analysed by agar gel electrophoresis coupled with enzymatic degradation. "
2.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2001 - "It leads to the production of a C7orf2 transcript lacking exon 4 and introduces a premature stop codon downstream of exon 3. Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development."
3.	Thalidomide (Thalomid)FDA Link 09/01/2001 - "The differential diagnosis must include malformations with reduction anomalies of extremities, like thalidomide syndrome, splenogonadal fusion with limb malformations, Roberts syndrome, oroacral complex or acheiropodia. "
4.	DNA (Deoxyribonucleic Acid)IBA 01/01/2021 - "CTCF and RAD21 ChIP-seq together with 4C-seq and DNA FISH identify three CTCF sites within the acheiropodia-deleted region that mediate the interaction between the ZRS and the SHH promoter. "
5.	AgarIBA 01/01/1977 - "Urinary mucopolysaccharides from three patients with acheiropodia were qualitatively and quantitatively analysed by agar gel electrophoresis coupled with enzymatic degradation. "

Therapies and Procedures

1.	Surgical Amputation (Amputations) 01/01/2001 - "Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. "