Poikiloderma with Neutropenia (PN)

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

Aliases & Classifications for Poikiloderma with Neutropenia

MalaCards integrated aliases for Poikiloderma with Neutropenia:

Name: Poikiloderma with Neutropenia 57 12 25 20 43 58 72 36 29 13 6 44 15
Poikiloderma with Neutropenia, Clericuzio Type 12 43 58
Clericuzio Type Poikiloderma with Neutropenia 20 43
Pn 57 72
Clericuzio-Type Poikiloderma Neutropenia Syndrome 72
Poikiloderma with Neutropenia, Clericuzio-Type 57
Clericuzio-Type Poikiloderma with Neutropenia 25
Poikiloderma with Neutropenia Clericuzio Type 20
Poikiloderma with Neutropenia Clericuzio-Type 72
Poikiloderma, with Neutropenia 39
Immune-Deficient Poikiloderma 43


Orphanet epidemiological data:

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


57 (Updated 05-Apr-2021)
autosomal recessive


poikiloderma with neutropenia:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare skin diseases
Rare immunological diseases

External Ids:

Disease Ontology 12 DOID:0060551
OMIM® 57 604173
KEGG 36 H00793
ICD10 32 D82.8
ICD10 via Orphanet 33 D82.8
UMLS via Orphanet 71 C1858723
Orphanet 58 ORPHA221046
MedGen 41 C1858723

Summaries for Poikiloderma with Neutropenia

MedlinePlus Genetics : 43 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.People with PN have chronic neutropenia, which is a persistent shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation and in fighting infection. Neutropenia makes it more difficult for the body to fight off pathogens such as bacteria and viruses. As a result, people with PN experience recurrent sinus infections and pneumonia, especially in the first few years of life. They often develop a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. The infections become less frequent after early childhood, but throughout life affected individuals usually have a chronic cough or a reactive airway disease. This term describes asthma and other conditions in which the airways abnormally constrict in response to stimuli such as smoke or a viral infection, leading to wheezing and shortness of breath.Researchers suggest that PN may increase the risk of cancer, although the level of risk is difficult to determine because only a small number of people have been diagnosed with PN. A type of skin cancer called squamous cell carcinoma, a precancerous blood disorder known as myelodysplastic syndrome (MDS), and a blood cancer called acute myelogenous leukemia that often follows MDS have occurred in a few people with PN.Some individuals with PN also develop unusual facial features as they grow. These features include a prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), a flat or sunken appearance of the middle of the face (midface hypoplasia), a small nose with a depressed nasal bridge, and a chin that protrudes (prognathism). Short stature and hypogonadotropic hypogonadism (a condition affecting the production of hormones that direct sexual development) can also occur in this disorder.

MalaCards based summary : Poikiloderma with Neutropenia, also known as poikiloderma with neutropenia, clericuzio type, is related to neutropenia and rothmund-thomson syndrome, type 2. An important gene associated with Poikiloderma with Neutropenia is USB1 (U6 SnRNA Biogenesis Phosphodiesterase 1), and among its related pathways/superpathways is mRNA Splicing - Major Pathway. Affiliated tissues include skin, neutrophil and bone marrow, and related phenotypes are hypertelorism and malar flattening

Disease Ontology : 12 A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has material basis in mutation in the C16ORF57 gene on chromosome 16q13.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221046 Definition Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

OMIM® : 57 Poikiloderma with neutropenia (PN) is an autosomal recessive syndrome characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, noncyclic neutropenia, short stature, and recurrent pulmonary infections (Clericuzio et al., 1991). (604173) (Updated 05-Apr-2021)

KEGG : 36 Poikiloderma with neutropenia is an inherited genodermatosis found in Navajo people. It is characterized by erythematous rash that appears in the first year of life. The rash starts from the limbs and spreads to the trunk and the face, evolving into poikiloderma. Patients with this disease have recurrent bacterial infections and chronic neutropenia. It has been reported mutations in USB1 cause this condition.

UniProtKB/Swiss-Prot : 72 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.

GeneReviews: NBK459118

Related Diseases for Poikiloderma with Neutropenia

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

Diseases related to Poikiloderma with Neutropenia

Symptoms & Phenotypes for Poikiloderma with Neutropenia

Human phenotypes related to Poikiloderma with Neutropenia:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 occasional (7.5%) HP:0000316
2 malar flattening 31 occasional (7.5%) HP:0000272
3 splenomegaly 31 very rare (1%) HP:0001744
4 short stature 31 very rare (1%) HP:0004322
5 recurrent otitis media 31 very rare (1%) HP:0000403
6 elevated serum creatine kinase 31 very rare (1%) HP:0003236
7 neutropenia 31 very rare (1%) HP:0001875
8 recurrent pneumonia 31 very rare (1%) HP:0006532
9 midface retrusion 31 very rare (1%) HP:0011800
10 plantar hyperkeratosis 31 very rare (1%) HP:0007556
11 poikiloderma 31 very rare (1%) HP:0001029
12 recurrent sinusitis 31 very rare (1%) HP:0011108
13 increased lactate dehydrogenase level 31 very rare (1%) HP:0025435
14 conjunctivitis 31 HP:0000509
15 blepharitis 31 HP:0000498

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:


Skin Nails Hair Skin:
keratoderma of palms and soles

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)

Growth Height:
short stature

Laboratory Abnormalities:

Skin Nails Hair Nails:

Respiratory Lung:
pulmonary infections, recurrent

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

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

Clinical features from OMIM®:

604173 (Updated 05-Apr-2021)

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

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.62 CDC5L G6PC3 PLRG1 PRPF19 RNU5A-1
2 Decreased shRNA abundance GR00251-A-2 9.62 CDC5L G6PC3 PLRG1 PRPF19 RNU5A-1

Drugs & Therapeutics for Poikiloderma with Neutropenia

Search Clinical Trials , NIH Clinical Center for Poikiloderma with Neutropenia

Cochrane evidence based reviews: 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:

Skin, Neutrophil, Bone Marrow, Myeloid, Nk Cells

Publications for Poikiloderma with Neutropenia

Articles related to Poikiloderma with Neutropenia:

(show top 50) (show all 55)
# Title Authors PMID Year
Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. 61 57 6 25
20503306 2010
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. 61 6 25 57
20004881 2010
Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. 61 57 25 6
18925663 2008
Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. 6 57 25
11737690 2001
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma. 61 25 6
21872685 2012
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. 25 61 6
21271650 2011
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. 61 6 25
20817924 2010
Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. 61 25 6
20618321 2010
Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. 61 25 57
20734427 2010
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. 25 57 61
15558713 2005
Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. 61 57 25
12673665 2003
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. 57 61
29753917 2019
Poikiloderma with Neutropenia in Morocco: a Report of Four Cases. 25 61
28353165 2017
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. 61 25
27612988 2016
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. 25 61
27247962 2016
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor. 25 61
26522474 2015
Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene. 61 25
26546903 2015
Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia. 25 61
25849198 2015
Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review. 25 61
25044170 2014
Poikiloderma with neutropenia: a case report and review of the literature. 25 61
23823120 2014
Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia. 61 25
22924337 2013
Poikiloderma with neutropenia: beginning at the end. 61 25
23393019 2013
Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. 61 25
23190533 2013
Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA. 25 61
23022480 2012
C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification. 61 25
22899009 2012
Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. 25 61
21967010 2012
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. 61 25
22269211 2012
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. 57
11471165 2001
Southwestern Athabaskan (Navajo and Apache) genetic diseases. 57
11258351 1999
Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation. 25
26535771 2016
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy. 25
22669413 2013
Haematological disease in siblings with Rothmund-Thomson syndrome. 25
10606946 1999
Association of intermediate osteopetrosis with poikiloderma. 25
10320533 1999
Inherited skin disorders presenting with poikiloderma. 61
33739439 2021
Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia. 61
32936385 2021
Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia. 61
33624217 2021
When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia. 61
32897901 2021
Clericuzio-type poikiloderma with neutropenia in a patient from India. 61
33111394 2021
Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis. 61
32620997 2020
Jaccoud's arthropathy in Clericuzio-type poikiloderma with neutropenia. 61
32415769 2020
Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report. 61
31522452 2019
Image Gallery: Poikiloderma with neutropenia. 61
30604532 2019
Structural and mechanistic basis for preferential deadenylation of U6 snRNA by Usb1. 61
30215753 2018
Poikiloderma with neutropenia and associated squamous cell carcinoma: A case report. 61
30152552 2018
Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation. 61
29797650 2018
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants. 61
29770900 2018
Poikiloderma with Neutropenia 61
29072891 2017
Generation of poikiloderma with neutropenia (PN) induced pluripotent stem cells (iPSCs). 61
26987923 2015
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms. 61
26306619 2015
Human Mpn1 promotes post-transcriptional processing and stability of U6atac. 61
26213367 2015

Variations for Poikiloderma with Neutropenia

ClinVar genetic disease variations for Poikiloderma with Neutropenia:

6 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 USB1 NM_024598.3(USB1):c.504-2A>C SNV Pathogenic 201 rs137853970 GRCh37: 16:58051236-58051236
GRCh38: 16:58017332-58017332
2 USB1 NM_024598.3(USB1):c.683_693+1del Deletion Pathogenic 202 rs137853972 GRCh37: 16:58052949-58052960
GRCh38: 16:58019045-58019056
3 USB1 NM_024598.3(USB1):c.502A>G (p.Arg168Gly) SNV Pathogenic 203 rs137853971 GRCh37: 16:58048229-58048229
GRCh38: 16:58014325-58014325
4 USB1 NM_024598.3(USB1):c.179del (p.Pro60fs) Deletion Pathogenic 18399 rs786205051 GRCh37: 16:58036462-58036462
GRCh38: 16:58002558-58002558
5 USB1 NM_024598.3(USB1):c.243G>A (p.Trp81Ter) SNV Pathogenic 156347 rs137853973 GRCh37: 16:58036527-58036527
GRCh38: 16:58002623-58002623
6 USB1 NM_024598.3(USB1):c.489_492del (p.Asn163fs) Deletion Pathogenic 496761 rs777667891 GRCh37: 16:58048213-58048216
GRCh38: 16:58014309-58014312
7 USB1 NM_024598.3(USB1):c.450-2A>G SNV Pathogenic 496758 rs1555498396 GRCh37: 16:58048175-58048175
GRCh38: 16:58014271-58014271
8 USB1 NM_001195302.2(USB1):c.450-3012del Deletion Pathogenic 496744 rs1555498399 GRCh37: 16:58048223-58048223
GRCh38: 16:58014319-58014319
9 USB1 NM_024598.3(USB1):c.531del (p.His179fs) Deletion Pathogenic 496745 rs1555498565 GRCh37: 16:58051265-58051265
GRCh38: 16:58017361-58017361
10 USB1 NM_024598.3(USB1):c.176_177del (p.Gly59fs) Deletion Pathogenic 496750 rs759761915 GRCh37: 16:58036458-58036459
GRCh38: 16:58002554-58002555
11 USB1 NM_024598.3(USB1):c.265+2T>G SNV Pathogenic 496753 rs1555497680 GRCh37: 16:58036551-58036551
GRCh38: 16:58002647-58002647
12 USB1 NM_024598.3(USB1):c.334dup (p.Arg112fs) Duplication Pathogenic 496756 rs1555498117 GRCh37: 16:58043896-58043897
GRCh38: 16:58009992-58009993
13 USB1 NM_024598.3(USB1):c.518T>G (p.Leu173Arg) SNV Pathogenic 496759 rs1555498563 GRCh37: 16:58051252-58051252
GRCh38: 16:58017348-58017348
14 USB1 NM_024598.3(USB1):c.232C>T (p.Arg78Ter) SNV Pathogenic 496751 rs374559185 GRCh37: 16:58036516-58036516
GRCh38: 16:58002612-58002612
15 USB1 NM_024598.3(USB1):c.266-1G>A SNV Pathogenic 496754 rs1555498092 GRCh37: 16:58043832-58043832
GRCh38: 16:58009928-58009928
16 USB1 NM_024598.3(USB1):c.609+1G>A SNV Pathogenic 496760 rs1555498581 GRCh37: 16:58051344-58051344
GRCh38: 16:58017440-58017440
17 USB1 NM_024598.3(USB1):c.415C>T (p.Gln139Ter) SNV Pathogenic 496757 rs1555498129 GRCh37: 16:58043982-58043982
GRCh38: 16:58010078-58010078
18 USB1 NM_024598.3(USB1):c.267T>A (p.Tyr89Ter) SNV Pathogenic 496755 rs771096742 GRCh37: 16:58043834-58043834
GRCh38: 16:58009930-58009930
19 USB1 NM_024598.3(USB1):c.693+1G>T SNV Pathogenic 496749 rs1292827495 GRCh37: 16:58052960-58052960
GRCh38: 16:58019056-58019056
20 USB1 NM_024598.3(USB1):c.258T>A (p.Tyr86Ter) SNV Pathogenic 496752 rs199820065 GRCh37: 16:58036542-58036542
GRCh38: 16:58002638-58002638
21 USB1 NM_024598.3(USB1):c.673C>T (p.Gln225Ter) SNV Pathogenic 496748 rs1459714680 GRCh37: 16:58052939-58052939
GRCh38: 16:58019035-58019035
22 USB1 NM_024598.3(USB1):c.541C>T (p.Gln181Ter) SNV Pathogenic 496746 rs1555498573 GRCh37: 16:58051275-58051275
GRCh38: 16:58017371-58017371
23 USB1 NM_024598.3(USB1):c.623A>G (p.His208Arg) SNV Pathogenic 496747 rs1249059283 GRCh37: 16:58052889-58052889
GRCh38: 16:58018985-58018985
24 USB1 NM_024598.4(USB1):c.370T>C (p.Ser124Pro) SNV Likely pathogenic 800958 rs1597049287 GRCh37: 16:58043937-58043937
GRCh38: 16:58010033-58010033
25 USB1 NM_024598.3(USB1):c.345del (p.Arg115_Met116insTer) Deletion Likely pathogenic 559873 rs1555498120 GRCh37: 16:58043911-58043911
GRCh38: 16:58010007-58010007
26 USB1 NM_024598.3(USB1):c.641G>A (p.Cys214Tyr) SNV Uncertain significance 626043 rs146685901 GRCh37: 16:58052907-58052907
GRCh38: 16:58019003-58019003
27 USB1 NM_024598.4(USB1):c.512T>C (p.Ile171Thr) SNV Uncertain significance 784580 rs149725439 GRCh37: 16:58051246-58051246
GRCh38: 16:58017342-58017342
28 USB1 NM_024598.4(USB1):c.784A>G (p.Met262Val) SNV Uncertain significance 933280 GRCh37: 16:58054135-58054135
GRCh38: 16:58020231-58020231
29 USB1 NM_024598.4(USB1):c.253G>A (p.Val85Ile) SNV Uncertain significance 1028327 GRCh37: 16:58036537-58036537
GRCh38: 16:58002633-58002633
30 USB1 NM_024598.4(USB1):c.209G>A (p.Arg70Gln) SNV Uncertain significance 1013673 GRCh37: 16:58036493-58036493
GRCh38: 16:58002589-58002589
31 USB1 NM_024598.4(USB1):c.796T>G (p.Ter266Gly) SNV Uncertain significance 1032181 GRCh37: 16:58054147-58054147
GRCh38: 16:58020243-58020243

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
Show member pathways
11.99 RNU6-1 RNU5A-1 PRPF19 PLRG1 CDC5L

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 nuclear speck GO:0016607 9.62 TUT1 PRPF19 PLRG1 CDC5L
2 spliceosomal complex GO:0005681 9.54 PRPF19 PLRG1 CDC5L
3 catalytic step 2 spliceosome GO:0071013 9.43 PRPF19 PLRG1 CDC5L
4 U4/U6 x U5 tri-snRNP complex GO:0046540 9.4 RNU6-1 RNU5A-1
5 U2-type catalytic step 2 spliceosome GO:0071007 9.33 PRPF19 PLRG1 CDC5L
6 DNA replication factor A complex GO:0005662 9.13 PRPF19 PLRG1 CDC5L
7 Prp19 complex GO:0000974 8.8 PRPF19 PLRG1 CDC5L

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

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.67 TUT1 PRPF19 PLRG1 CDC5L
2 mRNA splicing, via spliceosome GO:0000398 9.61 PRPF19 PLRG1 CDC5L
3 RNA splicing GO:0008380 9.56 USB1 PRPF19 PLRG1 CDC5L
4 mRNA 5'-splice site recognition GO:0000395 9.4 RNU6ATAC RNU4ATAC
5 formation of quadruple SL/U4/U5/U6 snRNP GO:0000353 9.32 RNU6-1 RNU5A-1
6 signal transduction involved in DNA damage checkpoint GO:0072422 9.16 PRPF19 CDC5L
7 spliceosomal tri-snRNP complex assembly GO:0000244 9.02 RNU6ATAC RNU6-1 RNU5A-1 RNU4ATAC PRPF19
8 U6 snRNA 3'-end processing GO:0034477 8.96 USB1 TUT1

Molecular functions related to Poikiloderma with Neutropenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pre-mRNA 5'-splice site binding GO:0030627 8.62 RNU6ATAC RNU4ATAC

Sources for Poikiloderma with Neutropenia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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