MCID: PKL001
MIFTS: 43

Poikiloderma with Neutropenia

Categories: Genetic diseases, Rare diseases, Skin diseases, Blood diseases, Immune diseases

Aliases & Classifications for Poikiloderma with Neutropenia

MalaCards integrated aliases for Poikiloderma with Neutropenia:

Name: Poikiloderma with Neutropenia 57 12 24 53 25 59 75 37 29 13 6 15
Poikiloderma with Neutropenia, Clericuzio Type 25 59
Clericuzio Type Poikiloderma with Neutropenia 53 25
Pn 57 75
Clericuzio-Type Poikiloderma Neutropenia Syndrome 75
Poikiloderma with Neutropenia, Clericuzio-Type 57
Clericuzio-Type Poikiloderma with Neutropenia 24
Poikiloderma with Neutropenia Clericuzio Type 53
Poikiloderma with Neutropenia Clericuzio-Type 75
Poikiloderma, with Neutropenia 40
Immune-Deficient Poikiloderma 25

Characteristics:

Orphanet epidemiological data:

59
poikiloderma with neutropenia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
poikiloderma with neutropenia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 604173
Disease Ontology 12 DOID:0060551
ICD10 33 D82.8
Orphanet 59 ORPHA221046
ICD10 via Orphanet 34 D82.8
UMLS via Orphanet 74 C1858723
MedGen 42 C1858723
MeSH 44 D012868
KEGG 37 H00793

Summaries for Poikiloderma with Neutropenia

UniProtKB/Swiss-Prot : 75 Poikiloderma with neutropenia: A genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. Patients have recurrent pneumonias that usually result in reactive airway disease and/or chronic cough. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund- Thomson syndrome.

MalaCards based summary : Poikiloderma with Neutropenia, also known as poikiloderma with neutropenia, clericuzio type, is related to rothmund-thomson syndrome and dyskeratosis congenita. An important gene associated with Poikiloderma with Neutropenia is USB1 (U6 SnRNA Biogenesis Phosphodiesterase 1), and among its related pathways/superpathways is C-MYB transcription factor network. Affiliated tissues include skin, bone and neutrophil, and related phenotypes are malar flattening and hypertelorism

Disease Ontology : 12 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.

Genetics Home Reference : 25 Poikiloderma with neutropenia (PN) is a disorder that mainly affects the skin and the immune system. This condition begins with a bumpy rash that usually appears between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades, and the affected child is left with darker and lighter patches of skin coloring (hyperpigmentation and hypopigmentation) and small clusters of blood vessels just under the skin (telangiectases); this combination is known as poikiloderma. Other skin problems include unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma); calcium deposits that form small nodules (calcinosis cutis), especially on the knees, elbows, or ears; or sores (ulcers) that do not easily heal. Affected individuals also have fingernails and toenails that are thick and abnormally shaped (pachyonychia), fragile teeth, and low bone density.

Description from OMIM: 604173
GeneReviews: NBK459118

Related Diseases for Poikiloderma with Neutropenia

Diseases related to Poikiloderma with Neutropenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 rothmund-thomson syndrome 30.4 RECQL4 USB1
2 dyskeratosis congenita 29.6 GRHL2 LIG4 USB1
3 prurigo nodularis 11.2
4 ablepharon-macrostomia syndrome 11.1
5 guillain-barre syndrome 11.0
6 peripheral nervous system neoplasm 10.9
7 peripheral nervous system ganglioneuroblastoma 10.9
8 mononeuritis multiplex 10.9
9 sensory peripheral neuropathy 10.9
10 peripheral nervous system disease 10.9
11 neutropenia 10.6
12 dubowitz syndrome 10.3 LIG4 USB1
13 neuronitis 9.9
14 ewing's family of tumors 9.9
15 wallerian degeneration 9.9
16 squamous cell carcinoma 9.9
17 calcinosis 9.9
18 ewing sarcoma 9.8
19 pleural disease 9.2 ADA MPO
20 pleurisy 8.9 ADA MPO

Graphical network of the top 20 diseases related to Poikiloderma with Neutropenia:



Diseases related to Poikiloderma with Neutropenia

Symptoms & Phenotypes for Poikiloderma with Neutropenia

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Hematology:
neutropenia

Skin Nails Hair Skin:
poikiloderma
keratoderma of palms and soles

Respiratory Lung:
pulmonary infections, recurrent

Head And Neck Face:
midface hypoplasia (in some patients)

Skin Nails Hair Nails:
pachyonychia

Growth Height:
short stature

Laboratory Abnormalities:
neutropenia

Head And Neck Eyes:
hypertelorism (in some patients)
eyebrow hypoplasia (in some patients)

Head And Neck Ears:
otitis media, recurrent

Skeletal Hands:
hypermobile fingers - 'beak of swan' appearance (in some patients)

Immunology:
recurrent infections at variable sites (sinusitis, otitis media, facial cellulitis, adenitis, blepharitis, conjunctivitis, gastroenteritis)


Clinical features from OMIM:

604173

Human phenotypes related to Poikiloderma with Neutropenia:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 occasional (7.5%) HP:0000272
2 hypertelorism 32 occasional (7.5%) HP:0000316
3 recurrent otitis media 32 HP:0000403
4 blepharitis 32 HP:0000498
5 conjunctivitis 32 HP:0000509
6 poikiloderma 32 HP:0001029
7 splenomegaly 32 HP:0001744
8 neutropenia 32 HP:0001875
9 short stature 32 HP:0004322
10 recurrent pneumonia 32 HP:0006532
11 midface retrusion 32 occasional (7.5%) HP:0011800

GenomeRNAi Phenotypes related to Poikiloderma with Neutropenia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.7 PRPF19 RNU5A-1 CDC5L G6PC3 MPO PLRG1
2 Decreased shRNA abundance GR00251-A-2 9.7 PLRG1 PRPF19 RNU5A-1 CDC5L G6PC3 MPO

MGI Mouse Phenotypes related to Poikiloderma with Neutropenia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 PRPF19 RECQL4 SPI1 ADA G6PC3 GRHL2

Drugs & Therapeutics for Poikiloderma with Neutropenia

Search Clinical Trials , NIH Clinical Center for Poikiloderma with Neutropenia

Genetic Tests for Poikiloderma with Neutropenia

Genetic tests related to Poikiloderma with Neutropenia:

# Genetic test Affiliating Genes
1 Poikiloderma with Neutropenia 29 USB1

Anatomical Context for Poikiloderma with Neutropenia

MalaCards organs/tissues related to Poikiloderma with Neutropenia:

41
Skin, Bone, Neutrophil, Bone Marrow, Myeloid

Publications for Poikiloderma with Neutropenia

Articles related to Poikiloderma with Neutropenia:

(show all 29)
# Title Authors Year
1
Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation. ( 29797650 )
2018
2
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants. ( 29770900 )
2018
3
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. ( 29753917 )
2018
4
Poikiloderma with Neutropenia in Morocco: a Report of Four Cases. ( 28353165 )
2017
5
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor. ( 26522474 )
2015
6
Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia. ( 25849198 )
2015
7
Generation of poikiloderma with neutropenia (PN) induced pluripotent stem cells (iPSCs). ( 26987923 )
2015
8
Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene. ( 26546903 )
2015
9
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms. ( 26306619 )
2015
10
Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review. ( 25044170 )
2014
11
Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. ( 23190533 )
2013
12
Clinical utility gene card for: poikiloderma with neutropenia. ( 23321617 )
2013
13
Poikiloderma With Neutropenia: A Case Report and Review of the Literature. ( 23823120 )
2013
14
Poikiloderma with neutropenia: beginning at the end. ( 23393019 )
2013
15
Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia. ( 22924337 )
2013
16
Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. ( 21967010 )
2012
17
C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification. ( 22899009 )
2012
18
Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA. ( 23022480 )
2012
19
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. ( 22269211 )
2012
20
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. ( 21271650 )
2011
21
Targeted next-generation sequencing appoints c16orf57 as clericuzio- type poikiloderma with neutropenia gene. ( 20004881 )
2010
22
Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. ( 20503306 )
2010
23
Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. ( 20734427 )
2010
24
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. ( 20817924 )
2010
25
Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. ( 20618321 )
2010
26
Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. ( 18925663 )
2008
27
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. ( 15558713 )
2005
28
Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. ( 12673665 )
2003
29
Poikiloderma with Neutropenia ( 29072891 )
1993

Variations for Poikiloderma with Neutropenia

ClinVar genetic disease variations for Poikiloderma with Neutropenia:

6
(show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 USB1 NM_024598.3(USB1): c.504-2A> C single nucleotide variant Pathogenic rs137853970 GRCh37 Chromosome 16, 58051236: 58051236
2 USB1 NM_024598.3(USB1): c.504-2A> C single nucleotide variant Pathogenic rs137853970 GRCh38 Chromosome 16, 58017332: 58017332
3 USB1 NM_024598.3(USB1): c.683_693+1del12 deletion Pathogenic rs137853972 GRCh37 Chromosome 16, 58052949: 58052960
4 USB1 NM_024598.3(USB1): c.683_693+1del12 deletion Pathogenic rs137853972 GRCh38 Chromosome 16, 58019045: 58019056
5 USB1 NM_024598.3(USB1): c.502A> G (p.Arg168Gly) single nucleotide variant Pathogenic rs137853971 GRCh37 Chromosome 16, 58048229: 58048229
6 USB1 NM_024598.3(USB1): c.502A> G (p.Arg168Gly) single nucleotide variant Pathogenic rs137853971 GRCh38 Chromosome 16, 58014325: 58014325
7 USB1 NM_024598.3(USB1): c.179delC (p.Pro60Leufs) deletion Pathogenic rs786205051 GRCh38 Chromosome 16, 58002559: 58002559
8 USB1 NM_024598.3(USB1): c.179delC (p.Pro60Leufs) deletion Pathogenic rs786205051 GRCh37 Chromosome 16, 58036463: 58036463
9 USB1 NM_024598.3(USB1): c.243G> A (p.Trp81Ter) single nucleotide variant Pathogenic rs137853973 GRCh38 Chromosome 16, 58002623: 58002623
10 USB1 NM_024598.3(USB1): c.243G> A (p.Trp81Ter) single nucleotide variant Pathogenic rs137853973 GRCh37 Chromosome 16, 58036527: 58036527
11 USB1 NG_027698.1: g.17950delA deletion Pathogenic GRCh38 Chromosome 16, 58014322: 58014322
12 USB1 NG_027698.1: g.17950delA deletion Pathogenic GRCh37 Chromosome 16, 58048226: 58048226
13 USB1 NG_027698.1: g.20989delA deletion Pathogenic GRCh37 Chromosome 16, 58051265: 58051265
14 USB1 NG_027698.1: g.20989delA deletion Pathogenic GRCh38 Chromosome 16, 58017361: 58017361
15 USB1 NM_024598.3(USB1): c.541C> T (p.(Gln181Ter)) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 58051275: 58051275
16 USB1 NM_024598.3(USB1): c.541C> T (p.(Gln181Ter)) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 58017371: 58017371
17 USB1 NM_024598.3(USB1): c.623A> G (p.(His208Arg)) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 58018985: 58018985
18 USB1 NM_024598.3(USB1): c.623A> G (p.(His208Arg)) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 58052889: 58052889
19 USB1 NM_024598.3(USB1): c.673C> T (p.(Gln225Ter)) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 58019035: 58019035
20 USB1 NM_024598.3(USB1): c.673C> T (p.(Gln225Ter)) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 58052939: 58052939
21 USB1 NM_024598.3(USB1): c.693+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 16, 58019056: 58019056
22 USB1 NM_024598.3(USB1): c.693+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 16, 58052960: 58052960
23 USB1 NM_024598.3(USB1): c.176_177delGG (p.Gly59Alafs) deletion Pathogenic GRCh37 Chromosome 16, 58036460: 58036461
24 USB1 NM_024598.3(USB1): c.176_177delGG (p.Gly59Alafs) deletion Pathogenic GRCh38 Chromosome 16, 58002556: 58002557
25 USB1 NM_024598.3(USB1): c.232C> T (p.Arg78Ter) single nucleotide variant Pathogenic rs374559185 GRCh37 Chromosome 16, 58036516: 58036516
26 USB1 NM_024598.3(USB1): c.232C> T (p.Arg78Ter) single nucleotide variant Pathogenic rs374559185 GRCh38 Chromosome 16, 58002612: 58002612
27 USB1 NM_024598.3(USB1): c.258T> A (p.Tyr86Ter) single nucleotide variant Pathogenic rs199820065 GRCh38 Chromosome 16, 58002638: 58002638
28 USB1 NM_024598.3(USB1): c.258T> A (p.Tyr86Ter) single nucleotide variant Pathogenic rs199820065 GRCh37 Chromosome 16, 58036542: 58036542
29 USB1 NM_024598.3(USB1): c.265+2T> G single nucleotide variant Pathogenic GRCh37 Chromosome 16, 58036551: 58036551
30 USB1 NM_024598.3(USB1): c.265+2T> G single nucleotide variant Pathogenic GRCh38 Chromosome 16, 58002647: 58002647
31 USB1 NM_024598.3(USB1): c.266-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 16, 58009928: 58009928
32 USB1 NM_024598.3(USB1): c.266-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 16, 58043832: 58043832
33 USB1 NM_024598.3(USB1): c.267T> A (p.Tyr89Ter) single nucleotide variant Pathogenic rs771096742 GRCh37 Chromosome 16, 58043834: 58043834
34 USB1 NM_024598.3(USB1): c.267T> A (p.Tyr89Ter) single nucleotide variant Pathogenic rs771096742 GRCh38 Chromosome 16, 58009930: 58009930
35 USB1 NM_024598.3(USB1): c.334dup (p.Arg112Profs) duplication Pathogenic GRCh37 Chromosome 16, 58043901: 58043901
36 USB1 NM_024598.3(USB1): c.334dup (p.Arg112Profs) duplication Pathogenic GRCh38 Chromosome 16, 58009997: 58009997
37 USB1 NM_024598.3(USB1): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 58043982: 58043982
38 USB1 NM_024598.3(USB1): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 58010078: 58010078
39 USB1 NM_024598.3(USB1): c.450-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 16, 58014271: 58014271
40 USB1 NM_024598.3(USB1): c.450-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 16, 58048175: 58048175
41 USB1 NM_024598.3(USB1): c.518T> G (p.Leu173Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 58051252: 58051252
42 USB1 NM_024598.3(USB1): c.518T> G (p.Leu173Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 58017348: 58017348
43 USB1 NM_024598.3(USB1): c.609+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 16, 58017440: 58017440
44 USB1 NM_024598.3(USB1): c.609+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 16, 58051344: 58051344
45 USB1 NM_024598.3(USB1): c.489_492delTCAA (p.Asn163Lysfs) deletion Pathogenic GRCh37 Chromosome 16, 58048216: 58048219
46 USB1 NM_024598.3(USB1): c.489_492delTCAA (p.Asn163Lysfs) deletion Pathogenic GRCh38 Chromosome 16, 58014312: 58014315

Expression for Poikiloderma with Neutropenia

Search GEO for disease gene expression data for Poikiloderma with Neutropenia.

Pathways for Poikiloderma with Neutropenia

Pathways related to Poikiloderma with Neutropenia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.69 ADA MPO SPI1

GO Terms for Poikiloderma with Neutropenia

Cellular components related to Poikiloderma with Neutropenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spliceosomal complex GO:0005681 9.5 CDC5L PLRG1 PRPF19
2 catalytic step 2 spliceosome GO:0071013 9.43 CDC5L PLRG1 PRPF19
3 U2-type catalytic step 2 spliceosome GO:0071007 9.33 CDC5L PLRG1 PRPF19
4 DNA replication factor A complex GO:0005662 9.13 CDC5L PLRG1 PRPF19
5 Prp19 complex GO:0000974 8.8 CDC5L PLRG1 PRPF19

Biological processes related to Poikiloderma with Neutropenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.62 CDC5L LIG4 PIDD1 PRPF19
2 DNA repair GO:0006281 9.56 CDC5L LIG4 PRPF19 RECQL4
3 in utero embryonic development GO:0001701 9.54 ADA GRHL2 LIG4
4 mRNA processing GO:0006397 9.46 CDC5L PLRG1 PRPF19 USB1
5 RNA splicing GO:0008380 9.26 CDC5L PLRG1 PRPF19 USB1
6 signal transduction involved in DNA damage checkpoint GO:0072422 8.62 CDC5L PRPF19

Sources for Poikiloderma with Neutropenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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