Poikiloderma with Neutropenia

A disorder characterized by abnormal skin pigmentation regions (poikiloderma), PALMOPLANTAR KERATODERMA; and recurrent infections due to neutropenia. It is associated with mutations in the C16orf57 (USB1) gene. OMIM: 604173

Also Known As:

Networked: 7 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Skin Diseases (Skin Disease)
2.	Cellulitis

Experts

1.	Dziembowski, Andrzej: 2 articles (09/2013 - 09/2012)
2.	Mroczek, Seweryn: 2 articles (09/2013 - 09/2012)
3.	Alkhoury, Ghattas: 1 article (01/2021)
4.	Roebke, Logan J: 1 article (01/2021)
5.	Vander Maten, Josh W: 1 article (01/2021)
6.	Bowler, Frank R: 1 article (02/2013)
7.	Campbell, Peter: 1 article (02/2013)
8.	Churcher, Mark J: 1 article (02/2013)
9.	Dokal, Inderjeet: 1 article (02/2013)
10.	Finch, Andrew J: 1 article (02/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Poikiloderma with Neutropenia:

1.	U6 small nuclear RNAIBA 02/07/2013 - "Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia." 09/01/2013 - "Recent studies have identified a new U6 snRNA biogenesis factor Usb1, the absence of which leads to poikiloderma with neutropenia (PN) (OMIM 604173), an autosomal recessive skin disease. " 09/01/2012 - "C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification." 10/25/2012 - "Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA."
2.	Proteins (Proteins, Gene)FDA Link 02/07/2013 - "The recessive disorder poikiloderma with neutropenia (PN) is caused by mutations in the C16orf57 gene that encodes the highly conserved USB1 protein. " 10/25/2012 - "Clericuzio-type poikiloderma with neutropenia (PN) is a rare genodermatosis associated with mutations in the C16orf57 gene, which codes for the uncharacterized protein hMpn1. " 09/01/2012 - "C16orf57 encodes a human protein of unknown function, and mutations in the gene occur in poikiloderma with neutropenia (PN), which is a rare, autosomal recessive disease. " 01/23/2012 - "Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations." 10/25/2012 - "Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA."
3.	RNA (Ribonucleic Acid)IBA 01/01/2023 - "Mutations in the 3' to 5' RNA exonuclease USB1 cause hematopoietic failure in poikiloderma with neutropenia (PN). " 10/25/2012 - "Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA."
4.	Exonucleases (3' 5' Exonuclease)IBA 01/01/2023 - "Mutations in the 3' to 5' RNA exonuclease USB1 cause hematopoietic failure in poikiloderma with neutropenia (PN). " 10/25/2012 - "Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA."
5.	Phosphoric Diester Hydrolases (Phosphodiesterases)IBA 09/01/2012 - "C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification."
6.	Oxygen (Dioxygen)IBA 01/01/2021 - "Hyperbaric oxygen management of recurrent cellulitis in poikiloderma with neutropenia."