PN
MCID: PKL001
MIFTS: 44

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 56 12 24 52 25 58 73 36 29 13 6 43 15
Poikiloderma with Neutropenia, Clericuzio Type 12 25 58
Clericuzio Type Poikiloderma with Neutropenia 52 25
Pn 56 73
Clericuzio-Type Poikiloderma Neutropenia Syndrome 73
Poikiloderma with Neutropenia, Clericuzio-Type 56
Clericuzio-Type Poikiloderma with Neutropenia 24
Poikiloderma with Neutropenia Clericuzio Type 52
Poikiloderma with Neutropenia Clericuzio-Type 73
Poikiloderma, with Neutropenia 39
Immune-Deficient Poikiloderma 25

Characteristics:

Orphanet epidemiological data:

58
poikiloderma with neutropenia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
poikiloderma with neutropenia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060551
OMIM 56 604173
KEGG 36 H00793
ICD10 32 D82.8
ICD10 via Orphanet 33 D82.8
UMLS via Orphanet 72 C1858723
Orphanet 58 ORPHA221046
MedGen 41 C1858723

Summaries for Poikiloderma with Neutropenia

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. 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 rothmund-thomson syndrome, type 2 and guillain-barre syndrome. 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, 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.

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

OMIM : 56 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)

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 : 73 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

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

(show top 50) (show all 209)
# Related Disease Score Top Affiliating Genes
1 rothmund-thomson syndrome, type 2 30.4 USB1 RECQL4
2 guillain-barre syndrome 11.7
3 prurigo nodularis 11.6
4 paraneoplastic neurologic disorders 11.5
5 peripheral nervous system neoplasm 11.2
6 peripheral nervous system ganglioneuroblastoma 11.2
7 oculopharyngeal muscular dystrophy 11.2
8 mcleod syndrome 11.2
9 neutropenia 10.8
10 erythrokeratoderma ''en cocardes'' 10.6
11 keratosis 10.5
12 wallerian degeneration 10.3
13 exanthem 10.3
14 skin carcinoma 10.3
15 neuropathy 10.3
16 peripheral nervous system disease 10.3
17 autosomal recessive disease 10.3
18 dyskeratosis congenita 10.3
19 rare genetic skin disease 10.3
20 esophageal cancer 10.2
21 hypertension, essential 10.2
22 krabbe disease 10.2
23 short bowel syndrome 10.2
24 myelodysplastic syndrome 10.2
25 squamous cell carcinoma 10.2
26 calcinosis 10.2
27 bronchiectasis 10.2
28 leukodystrophy 10.2
29 neuritis 10.2
30 colorectal cancer 10.1
31 angina pectoris 10.1
32 cholestasis 10.1
33 polyneuropathy 10.1
34 demyelinating disease 10.1
35 dysautonomia 10.1
36 autoimmune disease 10.0
37 volvulus of midgut 10.0
38 lung cancer 10.0
39 neuropathy, hereditary sensory and autonomic, type iii 10.0
40 ewing sarcoma 10.0
41 bone resorption disease 10.0
42 charcot-marie-tooth disease 10.0
43 tooth disease 10.0
44 pancreatic ductal adenocarcinoma 10.0
45 paraplegia 10.0
46 polyarteritis nodosa 10.0
47 chronic pain 10.0
48 spinal cord injury 10.0
49 cyclic neutropenia 10.0
50 kindler syndrome 10.0

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 elevated serum creatine kinase 31 very rare (1%) HP:0003236
6 recurrent otitis media 31 very rare (1%) HP:0000403
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:

56
Abdomen Spleen:
splenomegaly

Hematology:
neutropenia

Skin Nails Hair Skin:
poikiloderma
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:
neutropenia

Skin Nails Hair Nails:
pachyonychia

Respiratory Lung:
pulmonary infections, recurrent

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

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

Clinical features from OMIM:

604173

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:

40
Skin, Neutrophil, Bone, Bone Marrow, Eye, Lung, Myeloid

Publications for Poikiloderma with Neutropenia

Articles related to Poikiloderma with Neutropenia:

(show all 49)
# Title Authors PMID Year
1
Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. 56 6 24 61
20503306 2010
2
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. 56 24 6 61
20004881 2010
3
Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. 61 56 6 24
18925663 2008
4
Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. 24 6 56
11737690 2001
5
Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. 61 56 24
20734427 2010
6
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. 61 56 24
15558713 2005
7
Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. 24 56 61
12673665 2003
8
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. 61 56
29753917 2019
9
Poikiloderma with Neutropenia 6 61
29072891 2017
10
Poikiloderma with Neutropenia in Morocco: a Report of Four Cases. 61 24
28353165 2017
11
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. 24 61
27612988 2016
12
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. 24 61
27247962 2016
13
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor. 24 61
26522474 2015
14
Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene. 24 61
26546903 2015
15
Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia. 24 61
25849198 2015
16
Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review. 61 24
25044170 2014
17
Poikiloderma with neutropenia: a case report and review of the literature. 61 24
23823120 2014
18
Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia. 24 61
22924337 2013
19
Poikiloderma with neutropenia: beginning at the end. 24 61
23393019 2013
20
Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. 61 24
23190533 2013
21
Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA. 61 24
23022480 2012
22
C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification. 24 61
22899009 2012
23
Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. 61 24
21967010 2012
24
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma. 61 24
21872685 2012
25
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. 61 24
22269211 2012
26
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. 61 24
21271650 2011
27
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. 61 24
20817924 2010
28
Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. 24 61
20618321 2010
29
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. 56
11471165 2001
30
Southwestern Athabaskan (Navajo and Apache) genetic diseases. 56
11258351 1999
31
Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation. 24
26535771 2016
32
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy. 24
22669413 2013
33
Haematological disease in siblings with Rothmund-Thomson syndrome. 24
10606946 1999
34
Association of intermediate osteopetrosis with poikiloderma. 24
10320533 1999
35
Jaccoud's arthropathy in Clericuzio-type poikiloderma with neutropenia. 61
32415769 2020
36
Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report. 61
31522452 2019
37
Image Gallery: Poikiloderma with neutropenia. 61
30604532 2019
38
Poikiloderma with neutropenia and associated squamous cell carcinoma: A case report. 61
30152552 2018
39
Structural and mechanistic basis for preferential deadenylation of U6 snRNA by Usb1. 61
30215753 2018
40
Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation. 61
29797650 2018
41
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
42
Generation of poikiloderma with neutropenia (PN) induced pluripotent stem cells (iPSCs). 61
26987923 2015
43
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms. 61
26306619 2015
44
Human Mpn1 promotes post-transcriptional processing and stability of U6atac. 61
26213367 2015
45
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. 61
24635570 2015
46
Clinical utility gene card for: poikiloderma with neutropenia. 61
23321617 2013
47
U6 RNA biogenesis and disease association. 61
23776162 2013
48
The Mpn1 RNA exonuclease: cellular functions and implication in disease. 61
23684637 2013
49
Neutropenia in primary immunodeficiency. 61
23196894 2013

Variations for Poikiloderma with Neutropenia

ClinVar genetic disease variations for Poikiloderma with Neutropenia:

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

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
Show member pathways
12.06 TXNL4A 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 9.71 TUT1 PRPF19 PLRG1 CDC5L
2 spliceosomal complex GO:0005681 9.56 TXNL4A PRPF19 PLRG1 CDC5L
3 catalytic step 2 spliceosome GO:0071013 9.54 PRPF19 PLRG1 CDC5L
4 U4/U6 x U5 tri-snRNP complex GO:0046540 9.5 TXNL4A RNU6-1 RNU5A-1
5 U5 snRNP GO:0005682 9.43 TXNL4A RNU5A-1
6 U2-type catalytic step 2 spliceosome GO:0071007 9.33 PRPF19 PLRG1 CDC5L
7 DNA replication factor A complex GO:0005662 9.13 PRPF19 PLRG1 CDC5L
8 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 splicing, via spliceosome GO:0000398 9.67 TXNL4A PRPF19 PLRG1 CDC5L
2 mRNA processing GO:0006397 9.65 TXNL4A TUT1 PRPF19 PLRG1 CDC5L
3 spliceosomal complex assembly GO:0000245 9.43 TXNL4A PRPF19
4 formation of quadruple SL/U4/U5/U6 snRNP GO:0000353 9.4 RNU6-1 RNU5A-1
5 RNA splicing GO:0008380 9.35 USB1 TXNL4A PRPF19 PLRG1 CDC5L
6 signal transduction involved in DNA damage checkpoint GO:0072422 9.32 PRPF19 CDC5L
7 U6 snRNA 3'-end processing GO:0034477 9.16 USB1 TUT1
8 spliceosomal tri-snRNP complex assembly GO:0000244 8.92 RNU6ATAC RNU6-1 RNU5A-1 PRPF19

Sources for Poikiloderma with Neutropenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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