Details of Disease

General Information of Disease (ID: DIS20E3L)

Disease Name Poikiloderma with neutropenia
Synonyms
poikiloderma with neutropenia, Clericuzio-type; Clericuzio type poikiloderma with neutropenia; poikiloderma with neutropenia Clericuzio type; PN; poikiloderma with neutropenia; Prurigo Nodularis; poikiloderma with neutropenia, Clericuzio type
Definition
A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.
Disease Hierarchy
DISZ74WG: Constitutional neutropenia
DISE8TL8: Hereditary poikiloderma
DISSCALK: Hereditary skin disorder
DIS20E3L: Poikiloderma with neutropenia
Disease Identifiers
MONDO ID
MONDO_0011405
MESH ID
C565820
UMLS CUI
C1858723
OMIM ID
604173
MedGen ID
388129
Orphanet ID
221046
SNOMED CT ID
772126000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
USB1 OTENP2YQ Definitive Autosomal recessive [1]
COL14A1 OTLNJ13O Strong Biomarker [3]
ENOSF1 OT65D3ZK Strong Biomarker [4]
GABARAPL1 OT4U7SBG Strong Altered Expression [5]
PHGR1 OTY3GTEP Strong Altered Expression [6]
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This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PLCB1 TTLPGU7 Strong Altered Expression [2]
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References

1 Poikiloderma with neutropenia: beginning at the end. Blood. 2013 Feb 7;121(6):872-4. doi: 10.1182/blood-2012-12-471367.
2 Phospholipase C Beta 1: a Candidate Signature Gene for Proneural Subtype High-Grade Glioma.Mol Neurobiol. 2016 Nov;53(9):6511-6525. doi: 10.1007/s12035-015-9518-2. Epub 2015 Nov 28.
3 Identification of a DNA methylome profile of esophageal squamous cell carcinoma and potential plasma epigenetic biomarkers for early diagnosis.PLoS One. 2014 Jul 22;9(7):e103162. doi: 10.1371/journal.pone.0103162. eCollection 2014.
4 Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22):4453-61. doi: 10.1093/hmg/ddq371. Epub 2010 Sep 3.
5 High expression of gabarapl1 is associated with a better outcome for patients with lymph node-positive breast cancer.Br J Cancer. 2010 Mar 16;102(6):1024-31. doi: 10.1038/sj.bjc.6605568. Epub 2010 Mar 2.
6 The Prognostic Relevance of Sentinel Lymph Node Metastases Assessed by PHGR1 mRNA Quantification in Stage I to III Colon Cancer.Transl Oncol. 2018 Apr;11(2):436-443. doi: 10.1016/j.tranon.2018.01.015. Epub 2018 Feb 21.