Poikiloderma with Neutropenia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PKL001 MIFTS: 43	Poikiloderma with Neutropenia Categories: Genetic diseases, Rare diseases, Skin diseases, Blood diseases, Immune diseases
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Immunodeficiency associated with other major defects

Immunodeficiency associated with other specified major defects

Orphanet: ⁵⁹

Rare skin diseases

Rare immunological diseases

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

SNOMED-CT via HPO ⁶⁹ 258211005 194021007 22006008 more

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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

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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:

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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

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Drugs & Therapeutics for Poikiloderma with Neutropenia

Search Clinical Trials , NIH Clinical Center for Poikiloderma with Neutropenia

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Genetic Tests for Poikiloderma with Neutropenia

Genetic tests related to Poikiloderma with Neutropenia:

#	Genetic test	Affiliating Genes
1	Poikiloderma with Neutropenia ²⁹	USB1

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Anatomical Context for Poikiloderma with Neutropenia

MalaCards organs/tissues related to Poikiloderma with Neutropenia:

⁴¹

Skin, Bone, Neutrophil, Bone Marrow, Myeloid

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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 )	Sakka R....Sfar M.T.	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 )	Colombo E.A....Larizza L.	2018
3	Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. ( 29753917 )	Concolino D....Larizza L.	2018
4	Poikiloderma with Neutropenia in Morocco: a Report of Four Cases. ( 28353165 )	Aglaguel A....Bousfiha A.A.	2017
5	A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor. ( 26522474 )	Colombo E.A....Larizza L.	2015
6	Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia. ( 25849198 )	Patil P....Kenmochi N.	2015
7	Generation of poikiloderma with neutropenia (PN) induced pluripotent stem cells (iPSCs). ( 26987923 )	Mills J.A....French D.L.	2015
8	Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene. ( 26546903 )	Patiroglu T....Akar H.H.	2015
9	Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms. ( 26306619 )	Negri G....Larizza L.	2015
10	Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review. ( 25044170 )	Koparir A....Ozen M.	2014
11	Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. ( 23190533 )	Hilcenko C....Warren A.J.	2013
12	Clinical utility gene card for: poikiloderma with neutropenia. ( 23321617 )	Larizza L....Sznajer Y.	2013
13	Poikiloderma With Neutropenia: A Case Report and Review of the Literature. ( 23823120 )	Farruggia P....Lanciotti M.	2013
14	Poikiloderma with neutropenia: beginning at the end. ( 23393019 )	Mason P.J....Bessler M.	2013
15	Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia. ( 22924337 )	Rodgers W....Harper J.I.	2013
16	Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. ( 21967010 )	Chantorn R....Shwayder T.	2012
17	C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification. ( 22899009 )	Mroczek S....Dziembowski A.	2012
18	Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA. ( 23022480 )	Shchepachev V....Azzalin C.M.	2012
19	Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. ( 22269211 )	Colombo E.A....Larizza L.	2012
20	Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. ( 21271650 )	Clericuzio C....Wang L.L.	2011
21	Targeted next-generation sequencing appoints c16orf57 as clericuzio- type poikiloderma with neutropenia gene. ( 20004881 )	Volpi L....Larizza L.	2010
22	Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. ( 20503306 )	Tanaka A....McGrath J.	2010
23	Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. ( 20734427 )	Concolino D....Strisciuglio P.	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 )	Walne A.J....Dokal I.	2010
25	Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. ( 20618321 )	Arnold A.W....Has C.	2010
26	Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. ( 18925663 )	Mostefai R....TaA^eb A.	2008
27	Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. ( 15558713 )	Van Hove J.L....Boogaerts M.	2005
28	Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. ( 12673665 )	Wang L.L....Plon S.E.	2003
29	Poikiloderma with Neutropenia ( 29072891 )	Adam M.P....Amemiya A.	1993

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Genes for Poikiloderma with Neutropenia

Genes related to Poikiloderma with Neutropenia (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	USB1	U6 SnRNA Biogenesis Phosphodiesterase 1	Protein Coding	1419.75	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	20004881 29072891 11737690 (more) 18925663 20503306
2	RECQL4	RecQ Like Helicase 4	Protein Coding	17.72	GeneCards inferred via : Publications (show sections)
3	PLRG1	Pleiotropic Regulator 1	Protein Coding	17.17	GeneCards inferred via : Publications (show sections)
4	CDC5L	Cell Division Cycle 5 Like	Protein Coding	17.17	GeneCards inferred via : Publications (show sections)
5	GRHL2	Grainyhead Like Transcription Factor 2	Protein Coding	15.53	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	G6PC3	Glucose-6-Phosphatase Catalytic Subunit 3	Protein Coding	15.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	LIG4	DNA Ligase 4	Protein Coding	15.31	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	NCF1	Neutrophil Cytosolic Factor 1	Protein Coding	14.45	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	SPI1	Spi-1 Proto-Oncogene	Protein Coding	14.34	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	ADA	Adenosine Deaminase	Protein Coding	14.29	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	MPO	Myeloperoxidase	Protein Coding	13.24	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	ZNF319	Zinc Finger Protein 319	Protein Coding	7.83	GeneCards inferred via : Variants (show sections)
13	RNU6-1	RNA, U6 Small Nuclear 1	RNA Gene	7.17	GeneCards inferred via : Publications (show sections)
14	RNU5A-1	RNA, U5A Small Nuclear 1	RNA Gene	7.17	GeneCards inferred via : Publications (show sections)
15	PRPF19	Pre-MRNA Processing Factor 19	Protein Coding	7.17	GeneCards inferred via : Publications (show sections)
16	PIDD1	P53-Induced Death Domain Protein 1	Protein Coding	5.61	DISEASES inferred ¹⁵

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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

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Expression for Poikiloderma with Neutropenia

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

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Pathways for Poikiloderma with Neutropenia

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

#	Super pathways	Score	Top Affiliating Genes
1	C-MYB transcription factor network ¹	10.69	ADA MPO SPI1

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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

Sources for Poikiloderma with Neutropenia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia