PN
MCID: PKL001
MIFTS: 43

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 58 12 25 54 26 60 76 38 30 13 6 45 15
Poikiloderma with Neutropenia, Clericuzio Type 12 26 60
Clericuzio Type Poikiloderma with Neutropenia 54 26
Pn 58 76
Clericuzio-Type Poikiloderma Neutropenia Syndrome 76
Poikiloderma with Neutropenia, Clericuzio-Type 58
Clericuzio-Type Poikiloderma with Neutropenia 25
Poikiloderma with Neutropenia Clericuzio Type 54
Poikiloderma with Neutropenia Clericuzio-Type 76
Poikiloderma, with Neutropenia 41
Immune-Deficient Poikiloderma 26

Characteristics:

Orphanet epidemiological data:

60
poikiloderma with neutropenia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
poikiloderma with neutropenia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060551
OMIM 58 604173
KEGG 38 H00793
ICD10 34 D82.8
ICD10 via Orphanet 35 D82.8
UMLS via Orphanet 75 C1858723
Orphanet 60 ORPHA221046
MedGen 43 C1858723

Summaries for Poikiloderma with Neutropenia

UniProtKB/Swiss-Prot : 76 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 dyskeratosis congenita and prurigo nodularis. An important gene associated with Poikiloderma with Neutropenia is USB1 (U6 SnRNA Biogenesis Phosphodiesterase 1). 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 and has material basis in mutation in the C16ORF57 gene on chromosome 16q13.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 221046Disease definitionPoikiloderma 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.

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 top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita 29.7 GRHL2 LIG4 USB1
2 prurigo nodularis 11.5
3 guillain-barre syndrome 11.3
4 peripheral nervous system neoplasm 11.1
5 peripheral nervous system ganglioneuroblastoma 11.1
6 neutropenia 10.7
7 rothmund-thomson syndrome 10.2
8 squamous cell carcinoma 10.2
9 neuritis 10.1
10 dubowitz syndrome 10.1 LIG4 USB1
11 colorectal cancer 10.0
12 esophageal cancer 10.0
13 wallerian degeneration 10.0
14 calcinosis 10.0
15 autoimmune disease 9.9
16 breast cancer 9.9
17 granulomatosis with polyangiitis 9.9
18 ewing sarcoma 9.9
19 oral squamous cell carcinoma 9.9
20 pontocerebellar hypoplasia 9.9
21 short bowel syndrome 9.9
22 sarcoma 9.9
23 von willebrand's disease 9.9
24 neuroma 9.9
25 adenocarcinoma 9.9
26 polyarteritis nodosa 9.9
27 ewing's family of tumors 9.9
28 bladder cancer 9.8
29 multiple sclerosis 9.8
30 hypertension, essential 9.8
31 neurofibromatosis, type i 9.8
32 neurofibromatosis, type iv, of riccardi 9.8
33 neutrophil migration 9.8
34 prostate cancer 9.8
35 retinoblastoma 9.8
36 small cell cancer of the lung 9.8
37 triiodothyronine receptor auxiliary protein 9.8
38 lung cancer 9.8
39 disorganization, mouse, homolog of 9.8
40 neuropathy, hereditary sensory and autonomic, type iii 9.8
41 krabbe disease 9.8
42 neutrophil actin dysfunction 9.8
43 niemann-pick disease, type c1 9.8
44 pancreatic cancer 9.8
45 squamous cell carcinoma, head and neck 9.8
46 prostate cancer, hereditary, 8 9.8
47 anxiety 9.8
48 prostate cancer, hereditary, 6 9.8
49 blood group, junior system 9.8
50 cholangiocarcinoma 9.8

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:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 occasional (7.5%) HP:0000272
2 hypertelorism 33 occasional (7.5%) HP:0000316
3 splenomegaly 33 very rare (1%) HP:0001744
4 short stature 33 very rare (1%) HP:0004322
5 recurrent otitis media 33 very rare (1%) HP:0000403
6 increased lactate dehydrogenase activity 33 very rare (1%) HP:0025435
7 neutropenia 33 very rare (1%) HP:0001875
8 recurrent pneumonia 33 very rare (1%) HP:0006532
9 midface retrusion 33 very rare (1%) HP:0011800
10 poikiloderma 33 very rare (1%) HP:0001029
11 recurrent sinusitis 33 very rare (1%) HP:0011108
12 elevated serum creatine kinase 33 very rare (1%) HP:0003236
13 plantar hyperkeratosis 33 very rare (1%) HP:0007556
14 blepharitis 33 HP:0000498
15 conjunctivitis 33 HP:0000509

Symptoms via clinical synopsis from OMIM:

58
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

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

27 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.87 SMAD4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.87 SMAD4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.87 LIG4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.87 CPN1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.87 LIG4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.87 LIG4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.87 LIG4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.87 PLRG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.87 LIG4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.87 PLRG1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.87 SMAD4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.87 PLRG1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.87 LIG4 PLRG1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.87 SMAD4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.87 CPN1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.87 CPN1 LIG4 PLRG1 SMAD4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.87 CPN1 SMAD4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.87 SMAD4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.87 PLRG1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.87 SMAD4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.87 PLRG1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.87 PLRG1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.87 LIG4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.87 SMAD4
25 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.87 PLRG1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.87 SMAD4
27 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.87 SMAD4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.87 LIG4
29 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.87 SMAD4
30 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.87 LIG4

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 30 USB1

Anatomical Context for Poikiloderma with Neutropenia

MalaCards organs/tissues related to Poikiloderma with Neutropenia:

42
Skin, Bone, Neutrophil, Bone Marrow, Prostate, Myeloid

Publications for Poikiloderma with Neutropenia

Articles related to Poikiloderma with Neutropenia:

(show all 31)
# Title Authors Year
1
Image Gallery: Poikiloderma with neutropenia. ( 30604532 )
2019
2
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. ( 29753917 )
2019
3
Poikiloderma with neutropenia and associated squamous cell carcinoma: A case report. ( 30152552 )
2018
4
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
5
Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation. ( 29797650 )
2018
6
Poikiloderma with Neutropenia in Morocco: a Report of Four Cases. ( 28353165 )
2017
7
Generation of poikiloderma with neutropenia (PN) induced pluripotent stem cells (iPSCs). ( 26987923 )
2015
8
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms. ( 26306619 )
2015
9
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor. ( 26522474 )
2015
10
Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene. ( 26546903 )
2015
11
Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia. ( 25849198 )
2015
12
Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review. ( 25044170 )
2014
13
Poikiloderma with neutropenia: a case report and review of the literature. ( 23823120 )
2014
14
Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. ( 23190533 )
2013
15
Clinical utility gene card for: poikiloderma with neutropenia. ( 23321617 )
2013
16
Poikiloderma with neutropenia: beginning at the end. ( 23393019 )
2013
17
Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia. ( 22924337 )
2013
18
Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. ( 21967010 )
2012
19
C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification. ( 22899009 )
2012
20
Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA. ( 23022480 )
2012
21
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. ( 22269211 )
2012
22
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. ( 21271650 )
2011
23
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. ( 20817924 )
2010
24
Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. ( 20503306 )
2010
25
Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. ( 20618321 )
2010
26
Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. ( 20734427 )
2010
27
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. ( 20004881 )
2010
28
Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. ( 18925663 )
2008
29
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. ( 15558713 )
2005
30
Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. ( 12673665 )
2003
31
Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. ( 11737690 )
2001

Variations for Poikiloderma with Neutropenia

ClinVar genetic disease variations for Poikiloderma with Neutropenia:

6 (show all 50)
# 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 NM_024598.3: c.499delA deletion Pathogenic rs1555498399 GRCh38 Chromosome 16, 58014322: 58014322
12 USB1 NM_024598.3: c.499delA deletion Pathogenic rs1555498399 GRCh37 Chromosome 16, 58048226: 58048226
13 USB1 NM_024598.3: c.531delA deletion Pathogenic rs1555498565 GRCh37 Chromosome 16, 58051265: 58051265
14 USB1 NM_024598.3: c.531delA deletion Pathogenic rs1555498565 GRCh38 Chromosome 16, 58017361: 58017361
15 USB1 NM_024598.3(USB1): c.541C> T (p.(Gln181Ter)) single nucleotide variant Pathogenic rs1555498573 GRCh37 Chromosome 16, 58051275: 58051275
16 USB1 NM_024598.3(USB1): c.541C> T (p.(Gln181Ter)) single nucleotide variant Pathogenic rs1555498573 GRCh38 Chromosome 16, 58017371: 58017371
17 USB1 NM_024598.3(USB1): c.623A> G (p.(His208Arg)) single nucleotide variant Pathogenic rs1249059283 GRCh38 Chromosome 16, 58018985: 58018985
18 USB1 NM_024598.3(USB1): c.623A> G (p.(His208Arg)) single nucleotide variant Pathogenic rs1249059283 GRCh37 Chromosome 16, 58052889: 58052889
19 USB1 NM_024598.3(USB1): c.673C> T (p.(Gln225Ter)) single nucleotide variant Pathogenic rs1459714680 GRCh38 Chromosome 16, 58019035: 58019035
20 USB1 NM_024598.3(USB1): c.673C> T (p.(Gln225Ter)) single nucleotide variant Pathogenic rs1459714680 GRCh37 Chromosome 16, 58052939: 58052939
21 USB1 NM_024598.3(USB1): c.693+1G> T single nucleotide variant Pathogenic rs1292827495 GRCh38 Chromosome 16, 58019056: 58019056
22 USB1 NM_024598.3(USB1): c.693+1G> T single nucleotide variant Pathogenic rs1292827495 GRCh37 Chromosome 16, 58052960: 58052960
23 USB1 NM_024598.3(USB1): c.176_177delGG (p.Gly59Alafs) deletion Pathogenic rs759761915 GRCh37 Chromosome 16, 58036460: 58036461
24 USB1 NM_024598.3(USB1): c.176_177delGG (p.Gly59Alafs) deletion Pathogenic rs759761915 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 rs1555497680 GRCh37 Chromosome 16, 58036551: 58036551
30 USB1 NM_024598.3(USB1): c.265+2T> G single nucleotide variant Pathogenic rs1555497680 GRCh38 Chromosome 16, 58002647: 58002647
31 USB1 NM_024598.3(USB1): c.266-1G> A single nucleotide variant Pathogenic rs1555498092 GRCh38 Chromosome 16, 58009928: 58009928
32 USB1 NM_024598.3(USB1): c.266-1G> A single nucleotide variant Pathogenic rs1555498092 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 rs1555498117 GRCh37 Chromosome 16, 58043901: 58043901
36 USB1 NM_024598.3(USB1): c.334dup (p.Arg112Profs) duplication Pathogenic rs1555498117 GRCh38 Chromosome 16, 58009997: 58009997
37 USB1 NM_024598.3(USB1): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic rs1555498129 GRCh37 Chromosome 16, 58043982: 58043982
38 USB1 NM_024598.3(USB1): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic rs1555498129 GRCh38 Chromosome 16, 58010078: 58010078
39 USB1 NM_024598.3(USB1): c.450-2A> G single nucleotide variant Pathogenic rs1555498396 GRCh38 Chromosome 16, 58014271: 58014271
40 USB1 NM_024598.3(USB1): c.450-2A> G single nucleotide variant Pathogenic rs1555498396 GRCh37 Chromosome 16, 58048175: 58048175
41 USB1 NM_024598.3(USB1): c.518T> G (p.Leu173Arg) single nucleotide variant Pathogenic rs1555498563 GRCh37 Chromosome 16, 58051252: 58051252
42 USB1 NM_024598.3(USB1): c.518T> G (p.Leu173Arg) single nucleotide variant Pathogenic rs1555498563 GRCh38 Chromosome 16, 58017348: 58017348
43 USB1 NM_024598.3(USB1): c.609+1G> A single nucleotide variant Pathogenic rs1555498581 GRCh38 Chromosome 16, 58017440: 58017440
44 USB1 NM_024598.3(USB1): c.609+1G> A single nucleotide variant Pathogenic rs1555498581 GRCh37 Chromosome 16, 58051344: 58051344
45 USB1 NM_024598.3(USB1): c.489_492del (p.Asn163Lysfs) deletion Pathogenic rs777667891 GRCh37 Chromosome 16, 58048216: 58048219
46 USB1 NM_024598.3(USB1): c.489_492del (p.Asn163Lysfs) deletion Pathogenic rs777667891 GRCh38 Chromosome 16, 58014312: 58014315
47 USB1 NM_024598.3(USB1): c.344delG (p.Met116Terfs) deletion Likely pathogenic rs1555498120 GRCh37 Chromosome 16, 58043911: 58043911
48 USB1 NM_024598.3(USB1): c.344delG (p.Met116Terfs) deletion Likely pathogenic rs1555498120 GRCh38 Chromosome 16, 58010007: 58010007
49 USB1 NM_024598.3(USB1): c.641G> A (p.Cys214Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 58052907: 58052907
50 USB1 NM_024598.3(USB1): c.641G> A (p.Cys214Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 58019003: 58019003

Expression for Poikiloderma with Neutropenia

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

Pathways for Poikiloderma with Neutropenia

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 DNA repair GO:0006281 9.73 CDC5L LIG4 PRPF19 RECQL4
2 RNA splicing GO:0008380 9.71 CDC5L PLRG1 PRPF19 USB1
3 in utero embryonic development GO:0001701 9.56 ADA GRHL2 LIG4 SMAD4
4 formation of quadruple SL/U4/U5/U6 snRNP GO:0000353 9.37 RNU5A-1 RNU6-1
5 somatic stem cell population maintenance GO:0035019 9.33 LIG4 SMAD4 SPI1
6 pri-miRNA transcription by RNA polymerase II GO:0061614 9.32 SMAD4 SPI1
7 signal transduction involved in DNA damage checkpoint GO:0072422 8.96 CDC5L PRPF19
8 spliceosomal tri-snRNP complex assembly GO:0000244 8.92 PRPF19 RNU5A-1 RNU6-1 RNU6ATAC

Sources for Poikiloderma with Neutropenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....