PN
MCID: PKL001
MIFTS: 44

Poikiloderma with Neutropenia (PN)

Categories: Blood diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Poikiloderma with Neutropenia

MalaCards integrated aliases for Poikiloderma with Neutropenia:

Name: Poikiloderma with Neutropenia 57 11 24 19 42 58 73 28 12 5 43 14
Poikiloderma with Neutropenia, Clericuzio Type 11 42 58
Clericuzio Type Poikiloderma with Neutropenia 19 42
Pn 57 73
Clericuzio-Type Poikiloderma Neutropenia Syndrome 73
Poikiloderma with Neutropenia, Clericuzio-Type 57
Clericuzio-Type Poikiloderma with Neutropenia 24
Poikiloderma with Neutropenia Clericuzio Type 19
Poikiloderma with Neutropenia Clericuzio-Type 73
Poikiloderma, with Neutropenia 38
Immune-Deficient Poikiloderma 42

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

<1/1000000 (Worldwide) 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
craniofacial dysmorphism is variably present


Classifications:

Orphanet: 58  
Rare skin diseases
Rare immunological diseases


Summaries for Poikiloderma with Neutropenia

MedlinePlus Genetics: 42 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 dyskeratosis congenita. An important gene associated with Poikiloderma with Neutropenia is USB1 (U6 SnRNA Biogenesis Phosphodiesterase 1). Affiliated tissues include skin, bone marrow and neutrophil, and related phenotypes are frontal bossing and splenomegaly

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 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.

Orphanet: 58 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 08-Dec-2022)

Disease Ontology: 11 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.

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 62)
# Related Disease Score Top Affiliating Genes
1 rothmund-thomson syndrome, type 2 30.7 USB1 RECQL4 FAM111B
2 dyskeratosis congenita 30.2 USB1 RNU6ATAC RECQL4 HAX1
3 neutropenia 30.2 VPS45 USB1 RECQL4 JAGN1 HAX1 G6PC3
4 cyclic neutropenia 29.5 USB1 JAGN1 HAX1 G6PC3
5 severe congenital neutropenia 29.3 VPS45 JAGN1 HAX1 G6PC3
6 skin disease 10.6
7 erythrokeratoderma ''en cocardes'' 10.6
8 skin carcinoma 10.4
9 myelodysplastic syndrome 10.3
10 exanthem 10.3
11 palmoplantar keratosis 10.3
12 leukemia, acute myeloid 10.3
13 calcinosis 10.3
14 bronchiectasis 10.3
15 rare genetic skin disease 10.3
16 photoparoxysmal response 1 10.2
17 hypogonadotropic hypogonadism 7 with or without anosmia 10.2
18 kindler syndrome 10.2
19 hypogonadotropic hypogonadism 10.2
20 osteomyelitis 10.2
21 squamous cell carcinoma 10.2
22 hypogonadism 10.2
23 dental caries 10.2
24 skin squamous cell carcinoma 10.2
25 acute myeloid leukemia with recurrent genetic anomaly 10.2
26 kindler epidermolysis bullosa 10.2
27 dermatopathia pigmentosa reticularis 10.0
28 mastocytosis, cutaneous 10.0
29 xeroderma pigmentosum, variant type 10.0
30 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.0
31 bacteremia 2 10.0
32 telangiectasis 10.0
33 myeloproliferative neoplasm 10.0
34 polyclonal hypergammaglobulinemia 10.0
35 epidermolysis bullosa 10.0
36 gingivitis 10.0
37 cellulitis 10.0
38 mastocytosis 10.0
39 arthropathy 10.0
40 lymphopenia 10.0
41 cataract 10.0
42 osteoarthritis 10.0
43 myeloid leukemia 10.0
44 children's interstitial lung disease 10.0
45 hereditary poikiloderma 10.0
46 pigmentation anomaly of the skin 10.0
47 autosomal recessive severe congenital neutropenia 10.0 HAX1 G6PC3
48 severe congenital neutropenia 4 10.0 HAX1 G6PC3
49 severe congenital neutropenia 6 10.0 JAGN1 G6PC3
50 cornelia de lange syndrome 3 with or without midline brain defects 9.9 RNU6ATAC RNU4ATAC

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:

30 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 30 Very rare (1%) HP:0002007
2 splenomegaly 30 Very rare (1%) HP:0001744
3 depressed nasal bridge 30 Very rare (1%) HP:0005280
4 hypertelorism 30 Very rare (1%) HP:0000316
5 carious teeth 30 Very rare (1%) HP:0000670
6 joint stiffness 30 Very rare (1%) HP:0001387
7 short nose 30 Very rare (1%) HP:0003196
8 short stature 30 Very rare (1%) HP:0004322
9 palmoplantar keratoderma 30 Very rare (1%) HP:0000982
10 retrognathia 30 Very rare (1%) HP:0000278
11 micrognathia 30 Very rare (1%) HP:0000347
12 recurrent otitis media 30 Very rare (1%) HP:0000403
13 low posterior hairline 30 Very rare (1%) HP:0002162
14 elevated circulating creatine kinase concentration 30 Very rare (1%) HP:0003236
15 joint laxity 30 Very rare (1%) HP:0001388
16 long philtrum 30 Very rare (1%) HP:0000343
17 skin rash 30 Very rare (1%) HP:0000988
18 neutropenia 30 Very rare (1%) HP:0001875
19 recurrent pneumonia 30 Very rare (1%) HP:0006532
20 nasolacrimal duct obstruction 30 Very rare (1%) HP:0000579
21 midface retrusion 30 Very rare (1%) HP:0011800
22 underdeveloped nasal alae 30 Very rare (1%) HP:0000430
23 sparse lateral eyebrow 30 Very rare (1%) HP:0005338
24 nail dystrophy 30 Very rare (1%) HP:0008404
25 leukopenia 30 Very rare (1%) HP:0001882
26 edema 30 Very rare (1%) HP:0000969
27 poikiloderma 30 Very rare (1%) HP:0001029
28 telangiectasia 30 Very rare (1%) HP:0001009
29 dermal atrophy 30 Very rare (1%) HP:0004334
30 recurrent bronchopulmonary infections 30 Very rare (1%) HP:0006538
31 recurrent sinusitis 30 Very rare (1%) HP:0011108
32 reticular hyperpigmentation 30 Very rare (1%) HP:0007588
33 increased circulating lactate dehydrogenase concentration 30 Very rare (1%) HP:0025435
34 conjunctivitis 30 HP:0000509
35 blepharitis 30 HP:0000498

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Laboratory Abnormalities:
neutropenia

Skin Nails Hair Skin:
poikiloderma
palmoplantar hyperkeratosis
photosensitivity

Head And Neck Eyes:
sparse eyebrows
hypertelorism (in some patients)
sparse eyelashes eyebrow hypoplasia (in some patients)
lachrymal duct obstruction (in some patients)

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)
cutaneous mastocytosis (in 1 patient)

Abdomen Liver:
hepatomegaly

Hematology:
neutropenia
leukopenia
hypocellularity seen on bone marrow biopsy

Skin Nails Hair Hair:
sparse hair
sparse eyelashes
sparse eyebrows
thin hair

Skin Nails Hair Nails:
pachyonychia
onychogryphosis

Head And Neck Teeth:
dental caries (in some patients)
hypodontia (in some patients)

Head And Neck Ears:
otitis media, recurrent

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

Neoplasia:
increased susceptibility to myelodysplasia
increased susceptibility to acute myeloid leukemia
increased susceptibility to squamous cell carcinoma

Clinical features from OMIM®:

604173 (Updated 08-Dec-2022)

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 28 USB1

Anatomical Context for Poikiloderma with Neutropenia

Organs/tissues related to Poikiloderma with Neutropenia:

MalaCards : Skin, Bone Marrow, Neutrophil, Bone, Myeloid, Nk Cells

Publications for Poikiloderma with Neutropenia

Articles related to Poikiloderma with Neutropenia:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. 62 24 57 5
27247962 2016
2
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. 62 24 57 5
21271650 2011
3
Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. 62 24 57 5
20618321 2010
4
Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. 62 24 57 5
20503306 2010
5
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. 62 24 57 5
20004881 2010
6
Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. 62 24 57 5
18925663 2008
7
Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. 24 57 5
11737690 2001
8
Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs. 62 57 5
34179048 2021
9
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants. 62 57 5
29770900 2018
10
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. 62 24 5
20817924 2010
11
Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. 62 24 57
20734427 2010
12
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. 62 24 57
15558713 2005
13
Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. 62 24 57
12673665 2003
14
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings. 62 57
29753917 2019
15
Poikiloderma with Neutropenia in Morocco: a Report of Four Cases. 62 24
28353165 2017
16
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. 62 24
27612988 2016
17
A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor. 62 24
26522474 2015
18
Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene. 62 24
26546903 2015
19
Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia. 62 24
25849198 2015
20
Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review. 62 24
25044170 2014
21
Poikiloderma with neutropenia: a case report and review of the literature. 62 24
23823120 2014
22
Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia. 62 24
22924337 2013
23
Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia. 62 24
23190533 2013
24
Poikiloderma with neutropenia: beginning at the end. 62 24
23393019 2013
25
Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA. 62 24
23022480 2012
26
C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification. 62 24
22899009 2012
27
Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis. 62 24
21967010 2012
28
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. 62 24
22269211 2012
29
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma. 62 24
21872685 2012
30
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. 57
11471165 2001
31
Southwestern Athabaskan (Navajo and Apache) genetic diseases. 57
11258351 1999
32
Genetic affinities of Jewish populations. 57
2063865 1991
33
Variation among DNA banking consent forms: points for clinicians to bank on. 24
35834113 2022
34
Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation. 24
26535771 2016
35
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
36
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy. 24
22669413 2013
37
Haematological disease in siblings with Rothmund-Thomson syndrome. 24
10606946 1999
38
Association of intermediate osteopetrosis with poikiloderma. 24
10320533 1999
39
Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation. 62
35522049 2022
40
HPV-5-associated cutaneous squamous cell carcinoma in situ in poikiloderma with neutropenia. 62
34155685 2021
41
Inherited skin disorders presenting with poikiloderma. 62
33739439 2021
42
Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia. 62
33624217 2021
43
Hyperbaric oxygen management of recurrent cellulitis in poikiloderma with neutropenia. 62
33836117 2021
44
Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation. 62
34004352 2021
45
Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia. 62
32936385 2021
46
Clericuzio-type poikiloderma with neutropenia in a patient from India. 62
33111394 2021
47
When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia. 62
32897901 2021
48
Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis. 62
32620997 2020
49
Jaccoud's arthropathy in Clericuzio-type poikiloderma with neutropenia. 62
32415769 2020
50
Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report. 62
31522452 2019

Variations for Poikiloderma with Neutropenia

ClinVar genetic disease variations for Poikiloderma with Neutropenia:

5 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 USB1 NM_024598.3:c.334dup DUP Pathogenic
1326260 GRCh37:
GRCh38:
2 USB1 NM_024598.4(USB1):c.489_492del (p.Asn163fs) DEL Pathogenic
496761 rs777667891 GRCh37: 16:58048213-58048216
GRCh38: 16:58014309-58014312
3 USB1 NM_024598.4(USB1):c.499del (p.Thr167fs) DEL Pathogenic
496744 rs1555498399 GRCh37: 16:58048223-58048223
GRCh38: 16:58014319-58014319
4 USB1 NM_024598.4(USB1):c.531del (p.His179fs) DEL Pathogenic
496745 rs1555498565 GRCh37: 16:58051265-58051265
GRCh38: 16:58017361-58017361
5 USB1 NM_024598.4(USB1):c.541C>T (p.Gln181Ter) SNV Pathogenic
496746 rs1555498573 GRCh37: 16:58051275-58051275
GRCh38: 16:58017371-58017371
6 USB1 NM_024598.4(USB1):c.266-1G>A SNV Pathogenic
496754 rs1555498092 GRCh37: 16:58043832-58043832
GRCh38: 16:58009928-58009928
7 USB1 NM_024598.4(USB1):c.504-2A>C SNV Pathogenic
201 rs137853970 GRCh37: 16:58051236-58051236
GRCh38: 16:58017332-58017332
8 USB1 NM_024598.4(USB1):c.683_693+1del DEL Pathogenic
202 rs137853972 GRCh37: 16:58052949-58052960
GRCh38: 16:58019045-58019056
9 USB1 NM_024598.4(USB1):c.502A>G (p.Arg168Gly) SNV Pathogenic
203 rs137853971 GRCh37: 16:58048229-58048229
GRCh38: 16:58014325-58014325
10 USB1 NM_024598.4(USB1):c.179del (p.Pro60fs) DEL Pathogenic
18399 rs786205051 GRCh37: 16:58036462-58036462
GRCh38: 16:58002558-58002558
11 USB1 NM_024598.4(USB1):c.243G>A (p.Trp81Ter) SNV Pathogenic
156347 rs137853973 GRCh37: 16:58036527-58036527
GRCh38: 16:58002623-58002623
12 USB1 NM_024598.4(USB1):c.345del (p.Arg115_Met116insTer) DEL Likely Pathogenic
559873 rs1555498120 GRCh37: 16:58043911-58043911
GRCh38: 16:58010007-58010007
13 USB1 NM_024598.4(USB1):c.370T>C (p.Ser124Pro) SNV Likely Pathogenic
800958 rs1597049287 GRCh37: 16:58043937-58043937
GRCh38: 16:58010033-58010033
14 USB1 NM_024598.4(USB1):c.253G>A (p.Val85Ile) SNV Uncertain Significance
1028327 rs764580227 GRCh37: 16:58036537-58036537
GRCh38: 16:58002633-58002633
15 USB1 NM_024598.4(USB1):c.796T>G (p.Ter266Gly) SNV Uncertain Significance
1032181 rs1963706554 GRCh37: 16:58054147-58054147
GRCh38: 16:58020243-58020243
16 USB1 NM_024598.4(USB1):c.784A>G (p.Met262Val) SNV Uncertain Significance
933280 rs143382202 GRCh37: 16:58054135-58054135
GRCh38: 16:58020231-58020231
17 USB1 NM_024598.4(USB1):c.641G>A (p.Cys214Tyr) SNV Uncertain Significance
626043 rs146685901 GRCh37: 16:58052907-58052907
GRCh38: 16:58019003-58019003
18 USB1 NM_024598.4(USB1):c.512T>C (p.Ile171Thr) SNV Uncertain Significance
784580 rs149725439 GRCh37: 16:58051246-58051246
GRCh38: 16:58017342-58017342
19 USB1 NM_024598.4(USB1):c.209G>A (p.Arg70Gln) SNV Uncertain Significance
1013673 rs767016894 GRCh37: 16:58036493-58036493
GRCh38: 16:58002589-58002589
20 USB1 NM_024598.4(USB1):c.99-36G>A SNV Benign
1295774 GRCh37: 16:58036347-58036347
GRCh38: 16:58002443-58002443
21 USB1 NM_024598.4(USB1):c.450-2A>G SNV Not Provided
496758 rs1555498396 GRCh37: 16:58048175-58048175
GRCh38: 16:58014271-58014271
22 USB1 NM_024598.4(USB1):c.673C>T (p.Gln225Ter) SNV Not Provided
496748 rs1459714680 GRCh37: 16:58052939-58052939
GRCh38: 16:58019035-58019035
23 USB1 NM_024598.4(USB1):c.176_177del (p.Gly59fs) DEL Not Provided
496750 rs759761915 GRCh37: 16:58036458-58036459
GRCh38: 16:58002554-58002555
24 USB1 NM_024598.4(USB1):c.265+2T>G SNV Not Provided
496753 rs1555497680 GRCh37: 16:58036551-58036551
GRCh38: 16:58002647-58002647
25 USB1 NM_024598.4(USB1):c.334dup (p.Arg112fs) DUP Not Provided
496756 rs1555498117 GRCh37: 16:58043896-58043897
GRCh38: 16:58009992-58009993
26 USB1 NM_024598.4(USB1):c.518T>G (p.Leu173Arg) SNV Not Provided
496759 rs1555498563 GRCh37: 16:58051252-58051252
GRCh38: 16:58017348-58017348
27 USB1 NM_024598.4(USB1):c.232C>T (p.Arg78Ter) SNV Not Provided
496751 rs374559185 GRCh37: 16:58036516-58036516
GRCh38: 16:58002612-58002612
28 USB1 NM_024598.4(USB1):c.609+1G>A SNV Not Provided
496760 rs1555498581 GRCh37: 16:58051344-58051344
GRCh38: 16:58017440-58017440
29 USB1 NM_024598.4(USB1):c.415C>T (p.Gln139Ter) SNV Not Provided
496757 rs1555498129 GRCh37: 16:58043982-58043982
GRCh38: 16:58010078-58010078
30 USB1 NM_024598.4(USB1):c.623A>G (p.His208Arg) SNV Not Provided
496747 rs1249059283 GRCh37: 16:58052889-58052889
GRCh38: 16:58018985-58018985
31 USB1 NM_024598.4(USB1):c.267T>A (p.Tyr89Ter) SNV Not Provided
496755 rs771096742 GRCh37: 16:58043834-58043834
GRCh38: 16:58009930-58009930
32 USB1 NM_024598.4(USB1):c.693+1G>T SNV Not Provided
496749 rs1292827495 GRCh37: 16:58052960-58052960
GRCh38: 16:58019056-58019056
33 USB1 NM_024598.4(USB1):c.258T>A (p.Tyr86Ter) SNV Not Provided
496752 rs199820065 GRCh37: 16:58036542-58036542
GRCh38: 16:58002638-58002638

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 9.81 TXNL4A PRPF19 PLRG1 LSM8 CDC5L
2 catalytic step 2 spliceosome GO:0071013 9.8 PRPF19 PLRG1 CDC5L
3 U2-type catalytic step 2 spliceosome GO:0071007 9.73 PRPF19 PLRG1 CDC5L
4 Prp19 complex GO:0000974 9.43 PRPF19 PLRG1 CDC5L
5 DNA replication factor A complex GO:0005662 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 9.85 TXNL4A PRPF19 PLRG1 LSM8 CDC5L
2 U6 snRNA 3'-end processing GO:0034477 9.56 TUT1 USB1
3 mRNA processing GO:0006397 9.43 TXNL4A TUT1 PRPF19 PLRG1 LSM8 CDC5L
4 RNA splicing GO:0008380 9.17 USB1 TXNL4A PRPF19 PLRG1 LSM8 CDC5L

Sources for Poikiloderma with Neutropenia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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