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PHA
MCID: PLG001
MIFTS: 51

Pelger-Huet Anomaly (PHA)

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Pelger-Huet Anomaly

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MalaCards integrated aliases for Pelger-Huet Anomaly:

Name: Pelger-Huet Anomaly 56 12 52 73 36 13 54 43 15 39 17 71
Pha 56 52 73
Pelger-Huët Anomaly 29 6
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities 52
Pelger-Huet Nuclear Anomaly 52
Pelger Huet Anomaly 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
allelic to hydropic and prenatally lethal chondrodystrophy
increased frequency in vastebotten county in northern sweden and gelenau in southeastern germany


HPO:

31
pelger-huet anomaly:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Bone diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Pelger-Huet Anomaly

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NIH Rare Diseases : 52 Pelger-Huet anomaly (PHA) is an inherited blood condition in which the nuclei of several types of white blood cells (neutrophils and eosinophils ) have unusual shape (bilobed, peanut or dumbbell-shaped instead of the normal trilobed shape) and unusual structure (coarse and lumpy). Click here to view a picture of these cells seen under the microscope. PHA is considered to be a benign disorder in most instances, as individuals with PHA are typically healthy. PHA is caused by mutations in the LBR gene . It is suspected that mutations within the LBR gene are responsible for a spectrum of disorders including isolated PHA; PHA with mild skeletal symptoms; and Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia (HEM) . PHA was previously thought to be inherited in an autosomal dominant manner; however, co-dominant inheritance has been suggested as well. It is important to distinguish PHA from acquired or pseudo-Pelger-Huet anomaly, which may be found in individuals with certain types of leukemia or myelodysplastic syndromes . Diagnosis is made based on characteristic appearance of white blood cell nuclei identified by a blood smear . Most individuals with PHA do not require treatment as they do not have symptoms.

MalaCards based summary : Pelger-Huet Anomaly, also known as pha, is related to laminopathy and muscular dystrophy. An important gene associated with Pelger-Huet Anomaly is LBR (Lamin B Receptor), and among its related pathways/superpathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA. Affiliated tissues include neutrophil, myeloid and bone, and related phenotypes are abnormality of chromosome segregation and intellectual disability

Disease Ontology : 12 A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has material basis in heterozygous mutation in LBR on chromosome 1q42.12.

KEGG : 36 Pelger-Huet anomaly is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes with skeletal abnormalities.

UniProtKB/Swiss-Prot : 73 Pelger-Huet anomaly: An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure.

Wikipedia : 74 Pelger-Huët anomaly is a blood laminopathy associated with the lamin B receptor, wherein several types... more...

More information from OMIM: 169400
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Related Diseases for Pelger-Huet Anomaly

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Diseases in the Pelger-Huet Anomaly family:

Pseudo Pelger-Huet Anomaly

Diseases related to Pelger-Huet Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 308, show less)
# Related Disease Score Top Affiliating Genes
1 laminopathy 30.6 SUN1 LMNA EMD
2 muscular dystrophy 29.2 SYNE1 SUN1 LMNB2 LMNB1 LMNA LBR
3 short stature, optic nerve atrophy, and pelger-huet anomaly 13.1
4 pelger-huet anomaly with mild skeletal anomalies 13.1
5 pseudo pelger-huet anomaly 12.8
6 short stature with optic atrophy and pelger-huët anomaly syndrome 12.8
7 hemifacial atrophy, progressive 12.0
8 pseudohypoaldosteronism, type i, autosomal dominant 12.0
9 pseudohypoaldosteronism, type i, autosomal recessive 11.5
10 pseudohypoaldosteronism 11.5
11 immunodeficiency-centromeric instability-facial anomalies syndrome 1 11.2
12 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.2
13 myelodysplastic syndrome 10.7
14 myelofibrosis 10.5
15 leukemia, acute myeloid 10.5
16 polydactyly 10.5
17 acute leukemia 10.5
18 myeloid leukemia 10.5
19 chromosomal triplication 10.5
20 familial mediterranean fever 10.5
21 3-methylglutaconic aciduria, type iii 10.5
22 autoimmune disease 3 10.5
23 erythroleukemia, familial 10.4
24 leukemia, chronic lymphocytic 10.4
25 neutrophil migration 10.4
26 chromosome 2q35 duplication syndrome 10.4
27 myeloma, multiple 10.4
28 polycythemia vera 10.4
29 muscular dystrophy, limb-girdle, autosomal dominant 1 10.4
30 leukemia, chronic myeloid 10.4
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
32 hemopericardium 10.4
33 patau syndrome 10.4
34 pericardial effusion 10.4
35 leukemia 10.4
36 pancytopenia 10.4
37 mycoplasma pneumoniae pneumonia 10.4
38 colon adenocarcinoma 10.4
39 epidermolysis bullosa 10.4
40 adenocarcinoma 10.4
41 epidermolysis bullosa dystrophica 10.4
42 pneumonia 10.4
43 polycythemia 10.4
44 albinism 10.4
45 familial acute myeloid leukemia with mutated cebpa 10.4
46 refractory anemia 10.4
47 red cell aplasia 10.4
48 cleft palate, isolated 10.3
49 light fixation seizure syndrome 10.3
50 mycobacterium tuberculosis 1 10.3
51 graft-versus-host disease 10.3
52 human granulocytic anaplasmosis 10.3
53 hemophagocytic lymphohistiocytosis 10.3
54 follicular lymphoma 10.3
55 hydrocephalus 10.3
56 diarrhea 10.3
57 porphyria 10.3
58 megaloblastic anemia 10.3
59 achromatopsia 10.3
60 oral candidiasis 10.3
61 hypothyroidism 10.3
62 prostatitis 10.3
63 candidiasis 10.3
64 ichthyosis 10.3
65 myeloproliferative neoplasm 10.3
66 spondylosis 10.3
67 hereditary elliptocytosis 10.3
68 pyoderma 10.3
69 hyperthyroidism 10.3
70 pyoderma gangrenosum 10.3
71 cleft lip 10.3
72 exophthalmos 10.3
73 alopecia 10.3
74 hypoglycemia 10.3
75 acute graft versus host disease 10.3
76 granulocytopenia 10.3
77 necrobiotic xanthogranuloma 10.3
78 headache 10.3
79 hypotonia 10.3
80 seizure disorder 10.3
81 posttransplant acute limbic encephalitis 10.3
82 cleft lip/palate 10.3
83 acute liver failure 10.3
84 leprosy 3 10.3
85 hansen's disease 10.3
86 emerinopathy 10.3 LMNA EMD
87 colorectal cancer 10.2
88 lymphoma 10.2
89 48,xyyy 10.2
90 first-degree atrioventricular block 10.2 LMNA EMD
91 neutrophilia, hereditary 10.2 U2AF1 LUC7L2
92 systemic lupus erythematosus 10.2
93 nonencapsulated sclerosing carcinoma 10.2 LMNB2 LMNB1 LMNA
94 breast cancer 10.1
95 liver disease 10.1
96 cytokine deficiency 10.1
97 rapidly involuting congenital hemangioma 10.1
98 allergic hypersensitivity disease 10.1
99 primary biliary cirrhosis 10.1
100 liver cirrhosis 10.1
101 mixed phenotype acute leukemia 10.1 U2AF1 LUC7L2
102 reynolds syndrome 10.0 LMNB2 LMNB1 LMNA LBR
103 papillomatosis, confluent and reticulated 10.0
104 sarcoidosis 1 10.0
105 leukemia, acute lymphoblastic 10.0
106 hairy cell leukemia 10.0
107 glomerulonephritis 10.0
108 measles 10.0
109 47,xyy 10.0
110 primary hyperoxaluria 10.0 LMNB2 LMNB1 LBR
111 lipodystrophy, familial partial, type 5 10.0 LMNB2 LMNB1 LMNA EMD
112 pfeiffer syndrome 9.9
113 autoimmune disease 9.9
114 burkitt lymphoma 9.9
115 polykaryocytosis inducer 9.9
116 rheumatoid arthritis 9.9
117 lymphoma, hodgkin, classic 9.9
118 immune deficiency disease 9.9
119 myasthenia gravis 9.9
120 lymphoma, non-hodgkin, familial 9.9
121 gastric cancer 9.9
122 pleurisy 9.9
123 tuberculoid leprosy 9.9
124 bacterial infectious disease 9.9
125 lepromatous leprosy 9.9
126 brucellosis 9.9
127 pertussis 9.9
128 tetanus 9.9
129 diphtheria 9.9
130 acute proliferative glomerulonephritis 9.9
131 typhoid fever 9.9
132 hyperinsulinism 9.9
133 hepatitis 9.9
134 pulmonary tuberculosis 9.9
135 astrocytoma 9.9
136 plague 9.9
137 mouth disease 9.9
138 proliferative glomerulonephritis 9.9
139 kidney disease 9.9
140 lymphopenia 9.9
141 rubella 9.9
142 allergic encephalomyelitis 9.9
143 splenomegaly 9.9
144 glial tumor 9.9
145 argyria 9.9
146 muscular disease 9.9 U2AF1 LMNB2 LMNA EMD
147 melorheostosis 9.9 LEXM LEMD3 EMD
148 walker-warburg syndrome 9.9 LMNA LEMD3 EMD
149 autosomal dominant limb-girdle muscular dystrophy 9.9 LMNA EMD
150 neuromuscular disease 9.9 LMNB2 LMNB1 LMNA EMD
151 x-linked emery-dreifuss muscular dystrophy 9.9 SYNE1 LMNA EMD
152 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.8 SYNE1 LMNA EMD
153 emery-dreifuss muscular dystrophy 7, autosomal dominant 9.8 SYNE1 SUN1
154 muscle tissue disease 9.8 U2AF1 LMNB2 LMNB1 LMNA EMD
155 neurofibromatosis, type ii 9.8
156 spondyloarthropathy 1 9.8
157 b-cell growth factor 9.8
158 bladder cancer 9.8
159 hepatocellular carcinoma 9.8
160 colchicine resistance 9.8
161 multiple sclerosis 9.8
162 hashimoto thyroiditis 9.8
163 renal cell carcinoma, nonpapillary 9.8
164 ige responsiveness, atopic 9.8
165 kaposi sarcoma 9.8
166 keratitis, hereditary 9.8
167 lymphocyte cytosol polypeptide, 40-kd 9.8
168 lymphocyte cytosol polypeptide, 49-kd 9.8
169 ovarian cancer 9.8
170 pernicious anemia 9.8
171 thrombocytopenic purpura, autoimmune 9.8
172 digeorge syndrome 9.8
173 down syndrome 9.8
174 anemia, autoimmune hemolytic 9.8
175 chediak-higashi syndrome 9.8
176 cystic fibrosis 9.8
177 fructose utilization 9.8
178 hydatidiform mole, recurrent, 1 9.8
179 laryngoonychocutaneous syndrome 9.8
180 pancreatic cancer 9.8
181 retinitis pigmentosa 9.8
182 insulin-like growth factor i 9.8
183 agammaglobulinemia, x-linked 9.8
184 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.8
185 wiskott-aldrich syndrome 9.8
186 pallister-killian syndrome 9.8
187 dermatitis, atopic 9.8
188 cervical cancer 9.8
189 langerhans cell histiocytosis 9.8
190 body mass index quantitative trait locus 1 9.8
191 creatinine clearance quantitative trait locus 9.8
192 allergic rhinitis 9.8
193 kala-azar 1 9.8
194 aplastic anemia 9.8
195 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
196 malaria 9.8
197 acute promyelocytic leukemia 9.8
198 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
199 hyperprolactinemia 9.8
200 cholangiocarcinoma 9.8
201 autoimmune lymphoproliferative syndrome, type v 9.8
202 helix syndrome 9.8
203 juvenile arthritis 9.8
204 deficiency anemia 9.8
205 inflammatory bowel disease 9.8
206 vitamin b12 deficiency 9.8
207 diffuse large b-cell lymphoma 9.8
208 metabolic acidosis 9.8
209 immunoglobulin alpha deficiency 9.8
210 drug allergy 9.8
211 bone resorption disease 9.8
212 childhood acute lymphocytic leukemia 9.8
213 neuroretinitis 9.8
214 mumps 9.8
215 paragonimiasis 9.8
216 gastric ulcer 9.8
217 t cell deficiency 9.8
218 pyelonephritis 9.8
219 inflammatory spondylopathy 9.8
220 goiter 9.8
221 common variable immunodeficiency 9.8
222 superficial keratitis 9.8
223 plica syndrome 9.8
224 graves' disease 9.8
225 shigellosis 9.8
226 hepatitis a 9.8
227 hepatic coma 9.8
228 pure red-cell aplasia 9.8
229 hepatic encephalopathy 9.8
230 cholestasis 9.8
231 alcoholic liver cirrhosis 9.8
232 cholera 9.8
233 keratosis 9.8
234 viral hepatitis 9.8
235 hepatitis b 9.8
236 agammaglobulinemia 9.8
237 synovitis 9.8
238 dermatitis 9.8
239 newcastle disease 9.8
240 bronchiolitis 9.8
241 glioblastoma multiforme 9.8
242 chronic granulomatous disease 9.8
243 purpura 9.8
244 temporal lobe epilepsy 9.8
245 histiocytosis 9.8
246 skin carcinoma 9.8
247 gestational trophoblastic neoplasm 9.8
248 retinitis 9.8
249 skin disease 9.8
250 rhinitis 9.8
251 uremia 9.8
252 intrahepatic cholangiocarcinoma 9.8
253 mixed glioma 9.8
254 nutritional deficiency disease 9.8
255 pulmonary coin lesion 9.8
256 t-cell acute lymphoblastic leukemia 9.8
257 eye disease 9.8
258 hemolytic anemia 9.8
259 severe combined immunodeficiency 9.8
260 acquired immunodeficiency syndrome 9.8
261 connective tissue disease 9.8
262 adenoma 9.8
263 spondylitis 9.8
264 b-cell lymphoma 9.8
265 t-cell lymphoblastic leukemia/lymphoma 9.8
266 thyroiditis 9.8
267 anthrax disease 9.8
268 muscular atrophy 9.8
269 neuroblastoma 9.8
270 gastrointestinal system disease 9.8
271 hodgkin's lymphoma, lymphocytic-histiocytic predominance 9.8
272 herpes simplex 9.8
273 seborrheic dermatitis 9.8
274 actinic keratosis 9.8
275 rosacea 9.8
276 leishmaniasis 9.8
277 macroglobulinemia 9.8
278 visceral leishmaniasis 9.8
279 lichen planus 9.8
280 viral infectious disease 9.8
281 sickle cell disease 9.8
282 chromosome 16q deletion 9.8
283 glioma 9.8
284 leukemia, t-cell, chronic 9.8
285 oral lichen planus 9.8
286 ovarian epithelial cancer 9.8
287 t-cell prolymphocytic leukemia 9.8
288 tetraploidy 9.8
289 encephalopathy 9.8
290 transient pseudohypoaldosteronism 9.8
291 precursor t-cell acute lymphoblastic leukemia 9.8
292 spinocerebellar ataxia, autosomal recessive 8 9.7 SYNE1 SUN1 EMD
293 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.6 SYNE1 SUN1 LMNA EMD
294 myopathy, x-linked, with postural muscle atrophy 9.6 SYNE1 SUN1 LMNA EMD
295 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.5 SYNE1 LMNB2 LMNB1 LMNA EMD
296 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.2 SYNE1 SUN1 LMNB2 LMNB1 LMNA EMD
297 charcot-marie-tooth disease, axonal, type 2b1 9.2 SYNE1 SUN1 LMNB2 LMNB1 LMNA EMD
298 charcot-marie-tooth disease 9.2 SYNE1 SUN1 LMNB2 LMNB1 LMNA EMD
299 cardiomyopathy, dilated, 1h 9.1 SYNE1 SUN1 LMNB2 LMNB1 LMNA LBR
300 cardiomyopathy, dilated, 1a 9.0 SYNE1 SUN1 LMNB2 LMNB1 LMNA EMD
301 osteopoikilosis 8.9 TM7SF2 LMNB2 LMNA LEXM LEMD3 LEMD2
302 emery-dreifuss muscular dystrophy 1, x-linked 8.7 SYNE1 SUN1 LMNB2 LMNB1 LMNA LEXM
303 buschke-ollendorff syndrome 8.7 U2AF1 SYNE1 LMNB2 LMNB1 LMNA LEXM
304 muscular dystrophy, congenital, lmna-related 8.7 SYNE1 SUN1 LMNB2 LMNB1 LMNA LEXM
305 emery-dreifuss muscular dystrophy 8.6 SYNE1 SUN1 LMNB2 LMNB1 LMNA LEXM
306 emery-dreifuss muscular dystrophy 2, autosomal dominant 8.6 SYNE1 SUN1 LMNB2 LMNB1 LMNA LEXM
307 hutchinson-gilford progeria syndrome 8.2 SYNE1 SUN1 LMNB2 LMNB1 LMNA LEXM
308 greenberg dysplasia 8.1 TM7SF2 SYNE1 SUN1 LMNB2 LMNB1 LMNA

Sources

Symptoms & Phenotypes for Pelger-Huet Anomaly

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Human phenotypes related to Pelger-Huet Anomaly:

31 (showing 33, show less)
# Description HPO Frequency HPO Source Accession
1 abnormality of chromosome segregation 31 hallmark (90%) HP:0002916
2 intellectual disability 31 very rare (1%) HP:0001249
3 depressed nasal bridge 31 very rare (1%) HP:0005280
4 gingival overgrowth 31 very rare (1%) HP:0000212
5 hypertelorism 31 very rare (1%) HP:0000316
6 kyphosis 31 very rare (1%) HP:0002808
7 macrocephaly 31 very rare (1%) HP:0000256
8 abnormality of the dentition 31 very rare (1%) HP:0000164
9 umbilical hernia 31 very rare (1%) HP:0001537
10 failure to thrive 31 very rare (1%) HP:0001508
11 frontal bossing 31 very rare (1%) HP:0002007
12 strabismus 31 very rare (1%) HP:0000486
13 recurrent otitis media 31 very rare (1%) HP:0000403
14 short 4th metacarpal 31 very rare (1%) HP:0010044
15 short 5th metacarpal 31 very rare (1%) HP:0010047
16 thrombocytopenia 31 very rare (1%) HP:0001873
17 ventricular septal defect 31 very rare (1%) HP:0001629
18 pes cavus 31 very rare (1%) HP:0001761
19 neutropenia 31 very rare (1%) HP:0001875
20 eczema 31 very rare (1%) HP:0000964
21 mild short stature 31 very rare (1%) HP:0003502
22 median cleft palate 31 very rare (1%) HP:0009099
23 foot dorsiflexor weakness 31 very rare (1%) HP:0009027
24 upper limb undergrowth 31 very rare (1%) HP:0009824
25 lower limb hyperreflexia 31 very rare (1%) HP:0002395
26 giant platelets 31 very rare (1%) HP:0001902
27 short 3rd metacarpal 31 very rare (1%) HP:0010041
28 lower limb hypertonia 31 very rare (1%) HP:0006895
29 bilateral tonic-clonic seizure 31 very rare (1%) HP:0002069
30 global developmental delay 31 HP:0001263
31 prominent forehead 31 HP:0011220
32 polydactyly 31 HP:0010442
33 hyposegmentation of neutrophil nuclei 31 HP:0011447

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly (homozygote)

Cardiovascular Heart:
ventricular septal defect (homozygote)

Neurologic Central Nervous System:
developmental delay (homozygote)
seizure disorder (homozygote)

Head And Neck Face:
prominent forehead (homozygote)

Skeletal Hands:
polydactyly (homozygote)
short metacarpals (homozygote)

Hematology:
hypolobulated (bilobed or rod-like) granulocyte nuclei (heterozygote)
ovoid granulocyte nuclei (homozygote)
coarse granulocyte chromatin

Clinical features from OMIM:

169400

GenomeRNAi Phenotypes related to Pelger-Huet Anomaly according to GeneCards Suite gene sharing:

26 (showing 9, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.62 AKAP8L U2AF1
2 Decreased viability GR00221-A-1 9.62 AKAP8L
3 Decreased viability GR00221-A-2 9.62 AKAP8L
4 Decreased viability GR00221-A-3 9.62 AKAP8L
5 Decreased viability GR00240-S-1 9.62 LEXM LMNA
6 Decreased viability GR00249-S 9.62 DISP1 LBR LMNA
7 Decreased viability GR00381-A-1 9.62 DISP1
8 Decreased viability GR00386-A-1 9.62 LMNA LUC7L2 SUN1 TM7SF2
9 Decreased viability GR00402-S-2 9.62 LBR LMNB1 NUP133 STX18 U2AF1

MGI Mouse Phenotypes related to Pelger-Huet Anomaly:

45 (showing 7, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 DISP1 EMD LBR LEMD2 LEMD3 LEXM
2 cardiovascular system MP:0005385 10.06 DISP1 EMD LEMD2 LEMD3 LMNA NBAS
3 growth/size/body region MP:0005378 10.06 DISP1 LBR LEMD2 LMNA LMNB1 LMNB2
4 homeostasis/metabolism MP:0005376 10.03 DISP1 EMD LBR LMNA LMNB1 LMNB2
5 mortality/aging MP:0010768 10 DISP1 LBR LEMD2 LEMD3 LEXM LMNA
6 muscle MP:0005369 9.56 DISP1 EMD LEMD2 LMNA LMNB1 LMNB2
7 nervous system MP:0003631 9.36 DISP1 LBR LEMD2 LMNA LMNB1 LMNB2
Sources

Drugs & Therapeutics for Pelger-Huet Anomaly

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Search Clinical Trials , NIH Clinical Center for Pelger-Huet Anomaly

Cochrane evidence based reviews: pelger-huet anomaly

Sources

Genetic Tests for Pelger-Huet Anomaly

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Genetic tests related to Pelger-Huet Anomaly:

# Genetic test Affiliating Genes
1 Pelger-Huët Anomaly 29 LBR
Sources

Anatomical Context for Pelger-Huet Anomaly

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MalaCards organs/tissues related to Pelger-Huet Anomaly:

40
Neutrophil, Myeloid, Bone, Liver, Bone Marrow, Retina, Small Intestine
Sources

Publications for Pelger-Huet Anomaly

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Articles related to Pelger-Huet Anomaly:

(showing 236, show less)
# Title Authors PMID Year
1
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). 61 6 56
12118250 2002
2
Lamin B-receptor mutations in Pelger-Huët anomaly. 61 54 6
14617022 2003
3
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. 54 6 61
12618959 2003
4
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly. 61 56
12490533 2003
5
Association of acquired Pelger-Huet anomaly with taxoid therapy. 61 56
8611447 1996
6
Congenital Pelger-Huet anomaly in triplets. 61 56
3348208 1988
7
Acute lymphoblastic leukaemia in a child with familial Pelger-Huet anomaly. 56 61
3475111 1987
8
Pelger-Huët anomaly in cats. 56 61
4035941 1985
9
The Pelger-Huët anomaly of leukocytes: description of a Quebec kindred. 56 61
5686316 1968
10
Pelger-Huet anomaly of leukocytes. Report of a case and survey of incidence. 56 61
14467172 1962
11
The Pelger-Huët anomaly in three families and its use in determining the disappearance of transfused neutrophils from the peripheral blood. 61 56
13618374 1959
12
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. 6
21327084 2010
13
Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. 56
14684694 2003
14
A new morphologic classification system for acute promyelocytic leukemia distinguishes cases with underlying PLZF/RARA gene rearrangements. 56
10942370 2000
15
Acquired Pelger-Huët nuclear anomaly with tuberculosis. 56
7053717 1982
16
Studies on the Pelger anomaly in Iceland. 56
848354 1977
17
Abnormal nuclear morphology of leukocytes in the mouse mutant ichthyosis. 56
1101484 1975
18
The Pelger anomaly of leukocytes: forty-one cases in seven families. 56
13913617 1962
19
The Pelger-anomaly in man and rabbit; a mendelian character of the nuclei of the leucocytes. 56
15436969 1950
20
[Nuclear abnormalities in Pelger-Huet anomaly; progress in blood cell morphology]. 54 61
15724491 2005
21
Role of nuclear lamins in nuclear segmentation of human neutrophils. 54 61
10816760 1999
22
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders. 61
32304187 2020
23
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. 61
31761904 2020
24
Acquired Pelger-Huët anomaly in a patient treated with valganciclovir. 61
31611226 2019
25
Familial case of hereditary Pelger-Huët anomaly. 61
31154564 2019
26
The Pseudo-Pelger huët Cell as a Retrospective Dosimeter: Analysis of a Radium Dial Painter Cohort. 61
29595755 2019
27
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. 61
31015584 2019
28
A family with congenital Pelger-Huët anomaly. 61
31041635 2019
29
Necrobiotic xanthogranuloma (without paraproteinemia) in a patient with Pelger-Huët anomaly. 61
30588610 2019
30
Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes. 61
30448303 2019
31
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. 61
30561119 2019
32
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. 61
30622725 2019
33
SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS. 61
30592236 2018
34
Stodtmeister Cells (Polymorphs with Pelger-Huët Anomaly) Showing "Faggots" in Mixed Phenotypic Acute Leukemia (T/Myeloid). 61
29398816 2018
35
[Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review]. 61
29262476 2017
36
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing. 61
28425089 2017
37
Image analysis of neutrophil nuclear morphology: Learning about phenotypic range and its reliable analysis from patients with pelger-Huët-anomaly and treated with colchicine. 61
27684937 2017
38
Lamin B Receptor: Interplay between Structure, Function and Localization. 61
28858257 2017
39
The Pseudo-Pelger HuËt Cell-A New Permanent Radiation Biomarker. 61
28121725 2017
40
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype. 61
28031453 2017
41
Hyposplenic changes and pseudo-Pelger-Huët anomaly following allogeneic stem cell transplantation. 61
27723081 2017
42
Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation. 61
28115293 2017
43
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. 61
27789416 2017
44
[Population frequency and age of mutation G5741→A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic]. 61
29369590 2016
45
Alterations in nuclear structure promote lupus autoimmunity in a mouse model. 61
27483354 2016
46
Familial Pelger-Huet Anomaly. 61
27408433 2016
47
Transient Deformation of Neutrophils in Kawasaki Disease. 61
27039225 2016
48
The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations. 61
27336722 2016
49
[Acquired Pelger-Huët anomaly/abnormal chromatin clumping of granulocytes after allogeneic hematopoietic stem cell transplantation for acute myeloid leukaemia: medication or relapse? ]. 61
26878615 2016
50
Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. 61
27830109 2016
51
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. 61
26286438 2015
52
[Idiopathic dysplasia of undetermined/uncertain significance (IDUS) initially presenting erythroblastosis and hyperferritinemia]. 61
26725356 2015
53
Pseudo-Pelger-Huët anomaly and granulocytic dysplasia associated with human granulocytic anaplasmosis. 61
25749661 2015
54
Pseudo-Pelger-Huët anomaly in a patient on tacrolimus. 61
26371350 2015
55
A case of benign Pelger-Huët anomaly. 61
26447239 2015
56
Case of acquired or pseudo-Pelger-Huët anomaly. 61
26634137 2015
57
Appearance of pseudo-Pelger Huet anomaly after accidental exposure to ionizing radiation in vivo. 61
25627941 2015
58
A case report on reversible Pelger-Huët anomaly depending on serum free fraction of valproic acid. 61
24985021 2015
59
Detection of Perlger-Huet anomaly based on augmented fast marching method and speeded up robust features. 61
26405883 2015
60
Pelger-Huët anomaly in a cat. 61
25115222 2014
61
Acquired pseudo-Pelger-Huët anomaly under maintenance therapy with rituximab in follicular lymphoma. 61
24483708 2014
62
Hemophagocytic lymphohistiocytosis and pelger-huët anomaly associated with colchicine intoxication. 61
25013716 2014
63
[Classification and clinical findings of myelodysplastic syndromes]. 61
25022065 2014
64
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. 61
23824842 2013
65
Nuclear envelope composition determines the ability of neutrophil-type cells to passage through micron-scale constrictions. 61
23355469 2013
66
Lamin B receptor recognizes specific modifications of histone H4 in heterochromatin formation. 61
23100253 2012
67
Dicer1 deletion in myeloid-committed progenitors causes neutrophil dysplasia and blocks macrophage/dendritic cell development in mice. 61
22353998 2012
68
A neonate with the Pelger-Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12. 61
22370897 2012
69
Understanding and recognizing the Pelger-Huët anomaly. 61
22338047 2012
70
Isolated isochromosome 17q in myelodysplastic syndromes with pure red cell aplasia and basophilia. 61
22728494 2012
71
Lamin B receptor regulates the growth and maturation of myeloid progenitors via its sterol reductase domain: implications for cholesterol biosynthesis in regulating myelopoiesis. 61
22140257 2012
72
Pelger-Huët anomaly in two related mixed-breed dogs. 61
21908340 2011
73
Congenital Pelger-Huët anomaly in a Danish/Swedish Farmdog: case report. 61
21362186 2011
74
Pseudo-Pelger-Huët anomaly induced by medications: a clinicopathologic study in comparison with myelodysplastic syndrome-related pseudo-Pelger-Huët anomaly. 61
21228370 2011
75
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome. 61
20951845 2011
76
Severe generalized muscular atrophia, nerve optic atrophia, ear problem and disability with Pelger-Huet anomaly. 61
24024025 2011
77
An in vitro model for Pelger-Huët anomaly: stable knockdown of lamin B receptor in HL-60 cells. 61
21327094 2010
78
Acquired Pelger-Huët: what does it really mean? 61
20691170 2010
79
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. 61
20577004 2010
80
Pseudo-Pelger-Huët anomaly induced by transplant medications. 61
20552303 2010
81
Dosage effect of zero to three functional LBR-genes in vivo and in vitro. 61
21326950 2010
82
Nuclear shape in papillary thyroid carcinoma: a role for lamin B receptor? 61
21103616 2010
83
Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7. 61
19940018 2010
84
Acquired Pelger-Huët anomaly associated with ibuprofen therapy. 61
19689923 2009
85
Historical perspective and clinical implications of the Pelger-Hüet cell. 61
19021122 2009
86
Pelger-Huët anomaly: a critical review of the literature. 61
19468205 2009
87
The lamin B receptor under transcriptional control of C/EBPepsilon is required for morphological but not functional maturation of neutrophils. 61
18621876 2008
88
Granulocytic nuclear differentiation of lamin B receptor-deficient mouse EPRO cells. 61
18495328 2008
89
Mouse neutrophils lacking lamin B-receptor expression exhibit aberrant development and lack critical functional responses. 61
18550262 2008
90
Imatinib resistance in a novel translocation der(17)t(1;17)(q25;p13) with loss of TP53 but without BCR/ABL kinase domain mutation in chronic myelogenous leukemia. 61
18474303 2008
91
Clonality investigation of morphologically dysplastic hematopoietic cells in myelodysplastic syndrome marrows. 61
18256784 2008
92
Pelger-Huët anomaly in an Arabian horse. 61
17806084 2007
93
Pelger-Huet anomaly: a case report. 61
17883176 2007
94
"Laminopathies": a wide spectrum of human diseases. 61
17467691 2007
95
The granulocyte nucleus and lamin B receptor: avoiding the ovoid. 61
17245605 2007
96
The pseudo-Pelger-Huët anomaly in pyoderma gangrenosum associated with myelodysplastic syndrome. 61
17519630 2007
97
Peripheral blood and bone marrow changes in patients with acquired immunodeficiency syndrome. 61
18050779 2006
98
Congenital Pelger-Huët anomaly in a horse. 61
17123255 2006
99
White blood cell left shift in a neonate: a case of mistaken identity. 61
16724080 2006
100
Pelger-Huët anomaly in a child with 1q42.3-44 deletion. 61
16007606 2006
101
Pseudo-Pelger-Huët in kidney-transplanted patients. 61
17119329 2006
102
Acquired Pelger-Huët anomaly in association with concomitant tacrolimus and mycophenolate mofetil in a liver transplant patient: a case report and review of the literature. 61
16390246 2006
103
Nuclear matrix proteins and hereditary diseases. 61
15865282 2005
104
Components of the nuclear envelope and their role in human disease. 61
15773746 2005
105
Acquired and reversible Pelger-Huët anomaly of polymorphonuclear neutrophils in three transplant patients receiving mycophenolate mofetil therapy. 61
12879427 2003
106
The nuclear lamina and its functions in the nucleus. 61
12921235 2003
107
Neutrophil dysplasia characterised by a pseudo-Pelger-Huet anomaly occurring with the use of mycophenolate mofetil and ganciclovir following renal transplantation: a report of five cases. 61
12109788 2002
108
Pseudo Pelger-Huët anomaly in myelodysplastic syndrome: hyposegmented apoptotic neutrophil? 61
11510471 2001
109
Sweet's syndrome in the setting of CD34-positive acute myelogenous leukemia treated with granulocyte colony stimulating factor: evidence for a clonal neutrophilic dermatosis. 61
11168757 2001
110
Acquired Pelger-Huët anomaly in association with concomitant tacrolimus and fluconazole therapy following allogeneic bone marrow transplantation. 61
11149744 2000
111
Familial Pelger--Huet anomaly in a female with adenocarcinoma of colon in a cancer prone family. 61
11198802 2000
112
17p- syndrome arising from a novel dicentric translocation in a patient with acute myeloid leukemia. 61
10748299 2000
113
A four-parameter index of marrow dysplasia has predictive value for survival in myelodysplastic syndromes. 61
10784393 2000
114
[Pelger-Huët anomaly]. 61
11212667 2000
115
Tuberculosis and Pelger-Huët anomaly. Case report. 61
10705722 1999
116
Homozygous form of the Pelger-Huët anomaly. 61
10457411 1999
117
[A feature of hematological findings in myelodysplastic syndromes]. 61
9760831 1998
118
[Pelger-Huët anomaly]. 61
9833425 1998
119
[Pseudo Pelger-Huët anomaly]. 61
9833440 1998
120
Establishment of a new myeloid cell line with i(17q) as the sole chromosomal anomaly from the bone marrow of a patient with myelodysplastic syndrome. 61
9284971 1997
121
Morphological subtyping of acute myeloid leukemia with maturation (AML-M2): homogeneous pink-colored cytoplasm of mature neutrophils is most characteristic of AML-M2 with t(8;21). 61
9180287 1997
122
Granulocytes with segmented nucleus retain normal chromosomes 17 in Philadelphia chromosome-positive chronic myeloid leukemia with i(17q) and pseudo-Pelger anomaly. A case report studied with fluorescence in situ hybridization. 61
8830728 1996
123
Haematological, ocular and skeletal abnormalities in a samoyed family. 61
8840254 1996
124
Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion. An entity characterized by specific dysgranulopoïesis and a high incidence of P53 mutations. 61
7885035 1995
125
Familial Pelger-Huet anomaly accompanied by tuberculosis and complicated by acute polyarthritis. 61
8533050 1995
126
[The Pelger-Huët anomaly]. 61
7839629 1994
127
Pelger-Huet anomaly with trisomy-18 syndrome. 61
8372823 1993
128
Pelger-Huët anomaly mimicking 'shift to the left'. 61
8377874 1993
129
[Pelger-Huët anomaly and hereditary elliptocytosis in 2 siblings]. 61
1418654 1992
130
[Myelodysplastic syndrome in a patient with familial Pelger-Huet anomaly]. 61
1758052 1991
131
Pelger-Huet anomaly in an infant with multiple congenital anomalies. 61
1951327 1991
132
Effects of G-CSF, GM-CSF, and IL-5 on nuclear segmentation of neutrophils and eosinophils in congenital or acquired Pelger-Huët anomaly. 61
1709106 1991
133
[The Pelger-Huët anomaly. A clinical and ultrastructural study of a family from northeastern Mexico]. 61
1867747 1991
134
Neutrophilic dermatosis with myelodysplastic syndrome: nuclear segmentation anomalies of neutrophils in the skin lesion and in peripheral blood. 61
2212120 1990
135
Translocations (5;17) and (7;17) in patients with de novo or therapy-related myelodysplastic syndromes or acute nonlymphocytic leukemia. A possible association with acquired pseudo-Pelger-Huët anomaly and small vacuolated granulocytes. 61
2340488 1990
136
Severe hematologic toxicity of valproic acid. A report of four patients. 61
2106802 1990
137
[A case of marked pseudo-Pelger-Huet anomaly of neutrophils in a patient with myelodysplastic syndrome and partial red cell aplasia (a special type of acute leukemia with pathologic blast differentiation)]. 61
2501144 1989
138
Leukocyte function in Pelger-Huët anomaly of dogs. 61
2649629 1989
139
Haematopoietic and immunologic abnormalities in severe aplastic anaemia patients treated with anti-thymocyte globulin. 61
2784688 1989
140
[A case of Pelger-Huet anomaly in a premature infant]. 61
2472317 1989
141
Homozygous Pelger-Huët anomaly and chondrodysplasia in a stillborn kitten. 61
3407106 1988
142
Acquired Pelger-Huet anomaly in a case of non-Hodgkin's lymphoma. 61
3124461 1988
143
Impaired heme synthesis in a family with Pelger-Huët anomaly, recurrent abdominal pain attacks and impaired neutrophil motility in vitro. 61
3678479 1987
144
Correlation between acquired pseudo-Pelger-Huet anomaly and involvement of chromosome 17 in chronic myeloid leukemia. 61
3470117 1987
145
[Acquired Pelger-Huët anomaly in a patient with malignant lymphogranuloma]. 61
3660681 1987
146
[Pelger-Huët anomaly. Cases in a Mexican family]. 61
3814331 1987
147
Nuclear segmentation, ultrastructure, and cytochemistry of blood cells from dogs with Pelger-Huët anomaly. 61
2435771 1987
148
[Atypical forms of Pelger-Huet anomaly]. 61
3822452 1987
149
[Nomifensine-induced fever with pericardial effusion, basal lung infiltration and pseudo-Pelger-Huet anomaly. A case report]. 61
3785052 1986
150
[The most extensive pedigree of Pelger-Huët anomaly so far was found recently in Czechoslovakia]. 61
3738331 1986
151
[Epileptic dementia in a patient with the heterozygous form of the Pelger-Huët anomaly]. 61
3731317 1986
152
[The occurrence of Pelger-Huet anomaly in Slovakia]. 61
4063864 1985
153
Acquired Pelger-Huet anomaly associated with Mycoplasma pneumoniae pneumonia. 61
4025231 1985
154
[Sjögren's syndrome in a patient with familial Pelger-Huët anomaly]. 61
4068257 1985
155
Reversible Pelger-Huët anomaly associated with ibuprofen therapy. 61
3970634 1985
156
[Polydactyly in the Pelger-Huet anomaly]. 61
2414170 1985
157
[Nonspecific immunity in Salmonella infection and Pelger-Huet anomaly]. 61
6522177 1984
158
[Morphologic picture of a shift to the left in a patient with the heterozygous form of the Pelger-Huet anomaly of neutrophilic leukocytes]. 61
6474866 1984
159
Clinical and laboratory characterization of Basenjis with immunoproliferative small intestinal disease. 61
6608887 1984
160
Pelger-Huet anomaly of granulocytes in a patient with tuberculosis. 61
6690241 1984
161
Cytogenetic and functional studies of leukocytes with Pelger-Huët anomaly. 61
6438994 1984
162
[Homozygotic Pelger-Huet anomaly]. 61
6887704 1983
163
The Pelger-Huet anomaly: a new familial association with polydactyly and trisomy 13 syndrome. 61
6414217 1983
164
A phenocopy of the homozygous Pelger-Huët anomaly secondary to acute enteritis in a heterozygous Pelger-Huët patient. 61
6414216 1983
165
Agnogenic myeloid metaplasia preceded by repeated leukemoid reactions and persistent acquired Pelger-Huët anomaly of granulocytes: case report with review of acquired Pelger-Huët anomaly. 61
6749276 1982
166
Transfer of Pelger-Huet anomaly by bone marrow transplantation. 61
6753573 1982
167
[Malabsorption syndrome in an infant with Pelger-Huet anomaly]. 61
7145757 1982
168
Neutrophilic movement of a Basenji with Pelger-Huët anomaly. 61
7073070 1982
169
[Homozygous Pelger-Huët anomaly. Apropos of a case]. 61
7184191 1982
170
Pelger-Huët anomaly. 61
6936624 1981
171
Pseudo-Pelger-Huët anomaly in chronic lymphocytic leukemia. 61
6794312 1981
172
[The Pelger-Huët leukocyte nuclear anomaly: a morphologic, cytochemical, cytogenetic and ultrastructural study of 39 cases (authors' transl)]. 61
7454963 1980
173
Pelger-Huet anomaly and d-penicillamine. 61
7401075 1980
174
Congenital disorders of the function of polymorphonuclear neutrophils. 61
6251530 1980
175
Functional and metabolic studies of polymorphonuclear leukocytes in the congenital Pelger-Huet anomaly. 61
6244014 1980
176
[Pelger-Huet anomaly]. 61
7375096 1980
177
Acquired Pelger-Huët anomaly limited to eosinophils. 61
6774561 1980
178
[A case report of Pelger-Huët anomaly of granulocyte associated with SLE (author's transl)]. 61
541850 1979
179
[Familial Pelger-Huet anomaly simulating pathological "left-shift" in the blood picture]. 61
538918 1979
180
[Pelger-Huet leukocyte anomaly. A clinical case of acquired and transient anomaly]. 61
481801 1979
181
Acquired hyposegmentation of granulocytes (pseudo-Pelger-Huët anomaly) in a dog. 61
477323 1979
182
Studies of the Pelger-Huët anomaly in foxhounds. 61
464021 1979
183
Impaired neutrophil chemotaxis in Pelger-Huët anomaly. 61
477034 1979
184
[Pelger-Huet anomaly]. 61
553508 1979
185
Eosinophilic acquired Pelger-Huët anomaly in acute myeloblastic leukemia. A cytochemical study. 61
108899 1979
186
Pelger-Huet anomaly in Chinese family in Singapore. 61
750755 1978
187
[Case of Pelger-Huet anomaly in its exceptional homozygotic variant]. 61
643213 1978
188
Defective chemotactic migration of polymorphonuclear leukocytes in Pelger-Huet anomaly. 61
323871 1977
189
Syndrome of Shwachman and leukaemia. 61
265092 1977
190
[Pelger-huët anomaly. A study of thirteen families (author's transl)]. 61
835044 1977
191
[Transient Pelger-Huet anomaly]. 61
1014555 1976
192
Ultrastructural features of the blood cells in a patient with Pelger-Huët anomaly. 61
937250 1976
193
Pelger-Huët anomaly and megaloblastic anemia. 61
4758290 1973
194
Eosinophilic Pelger-Huët anomaly with myeloproliferative disorder. 61
4356449 1973
195
Prevalence of Pelger-Huët anomaly of leucocytes in Adivasi population of western Madhya Pradesh. 61
4763945 1973
196
Familial acute myeloid leukaemia with acquired Pelger-Huet anomaly and aneuploidy of C group. 61
4508672 1972
197
[Pelger-Huet anomaly]. 61
4658526 1972
198
[Pelger-Huët anomaly]. 61
5158049 1971
199
[Pelger-Huet anomaly observed in a Warsaw family]. 61
5122481 1971
200
Acquired Pelger-Huet anomaly in erythroleukemia. 61
5288439 1970
201
[Antibacterial behavior of leukocytes in normal subjects and in patients with Chediak-Higashi or Pelger-Huet anomaly]. 61
4194314 1970
202
[Biologic study of a case of Pelger-Huet anomaly and another of Chediak-Higashi disease]. 61
5345021 1969
203
Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly. Clinical, pathologic and linkage considerations. 61
5780363 1969
204
[Pelger-Huet anomaly]. 61
5726620 1968
205
[Genetic and hematologic study of a family presenting the Pelger-Huet anomaly associated, in one case, with epilepsy and, in another case, with polythelia]. 61
5710713 1968
206
Acquired Pelger-Huët anomaly in cattle. 61
5688703 1968
207
Epidermolysis bullosa dystrophica, hypoplastic type, associated with Pelger-Huet anomaly. 61
6082912 1967
208
Acquired Pelger-Huët anomaly associated with infectious mononucleosis. 61
5183182 1967
209
Pelger-Huët anomaly of the granulocytes in a Cape colored family. 61
5845448 1965
210
[The Pelger-Huet anomaly in acute leukemia]. 61
5855140 1965
211
[Genetic, cytochemical, cytoenzymatic and molecular biochemical investigations in the Pelger-Huet anomaly]. 61
5862161 1965
212
[ANOTHER FAMILY WITH THE "PELGER-HUET" ANOMALY ASSOCIATED WITH FAMILIAL DIABETES. STUDY INCLUDING 4 GENERATIONS. (PRELIMINARY NOTE)]. 61
14338272 1965
213
[RESULTS OF A MASS EXAMINATION OF THE BLOOD PICTURE WITH SPECIAL REFERENCE TO THE PELGER-HUET ANOMALY OF THE LEUKOCYTES]. 61
14308633 1964
214
[ON THE ACTIVITY OF NEUTROPHILIC ALKALINE PHOSPHATASE WITH PELGER-HUET ANOMALY IN RABBITS]. 61
14241274 1964
215
[OSMOTIC LEUKOCYTE RESISTANCE IN THE PELGER-HUET ANOMALY]. 61
14253323 1964
216
[ON THE OPHTHALMOLOGICAL MANIFESTATIONS OF THE PELGER-HUET ANOMALY OF THE LEUKOCYTES]. 61
14094893 1963
217
PELGER-HUET ANOMALY OF LEUCOCYTES: A REPORT OF 6 CASES IN INDIANS. 61
14068649 1963
218
[A sibling with a hitherto unknown variant of heterozygous manifestation (concentrated form) of Pelger-Huet anomaly with Stodtmeister atypia]. 61
13968435 1963
219
[CONTRIBUTION TO THE PELGER-HUET ANOMALY IN LEUKOCYTE NUCLEI]. 61
14122405 1963
220
[Data on constitutional role of Pelger-Huet anomaly]. 61
13686711 1961
221
Pelger-Huet anomaly in lymphocytic leukaemia. 61
13906076 1961
222
[Syndactyly in the Pelger-Huet anomaly]. 61
13751645 1961
223
[Pelger-Huet anomaly associated with limited partial albinism. Cytochemical studies on Pelger's blood cells]. 61
13775847 1961
224
Polycythemia vera turning into myelofibrosis in an individual with Pelger-Huet anomaly of the leukocytes. 61
14435748 1959
225
[A further homozygotous sign of the Pelger-Huet anomaly and a case of pseudohomozygotous pseudo-Pelger in chronic myelosis]. 61
13834722 1959
226
Leucocytic shift to the left in mongolism, with some observations on segmentation inhibition and the Pelger-Huet anomaly. 61
14410007 1959
227
[Human homozygote Pelger-Huët anomaly]. 61
13554138 1958
228
[A partial carrier of the Pelger-Huët anomaly of blood corpuscles with heterozygous Pelger cells of the Stodtmeister type]. 61
13438049 1957
229
[Pelger-Huët anomaly of leukocytes]. 61
13335182 1956
230
Pelger-Huët anomaly of the leukocytes. 61
13272838 1955
231
The Pelger-Huët anomaly: investigation of family A. 61
13208022 1954
232
[Leukocytic Pelger-Huet anomaly]. 61
13195569 1954
233
[Hereditary Pelger-Huët anomaly]. 61
13166391 1953
234
[New case of Pelger-Huet anomaly]. 61
13067131 1953
235
The Pelger-Huet anomaly of the leucocytes. 61
14934618 1952
236
[Pelger-Huët anomaly]. 61
14785571 1950
Sources

Variations for Pelger-Huet Anomaly

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ClinVar genetic disease variations for Pelger-Huet Anomaly:

6 (showing 9, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LBR NM_002296.4(LBR):c.1565-10_1565-5delshort repeat Pathogenic 9527 rs886037616 1:225592233-225592238 1:225404531-225404536
2 LBR NM_002296.4(LBR):c.166-2A>GSNV Pathogenic 9528 1:225609981-225609981 1:225422279-225422279
3 LBR NM_002296.4(LBR):c.1599_1605delinsCTAGAAG (p.Leu534_Leu535delinsTer)indel Pathogenic 9529 rs387906416 1:225592188-225592194 1:225404486-225404492
4 LBR NM_002296.4(LBR):c.356C>T (p.Pro119Leu)SNV Pathogenic 9530 1:225609789-225609789 1:225422087-225422087
5 LBR NM_002296.4(LBR):c.1484-9A>GSNV Pathogenic 9531 1:225592417-225592417 1:225404715-225404715
6 LBR NM_002296.4(LBR):c.1706C>G (p.Pro569Arg)SNV Pathogenic 9532 1:225591147-225591147 1:225403445-225403445
7 LBR NM_002296.4(LBR):c.32_35del (p.Val11fs)deletion Pathogenic 100902 rs863223326 1:225611743-225611746 1:225424041-225424044
8 LBR NM_002296.4(LBR):c.1747C>T (p.Arg583Ter)SNV Conflicting interpretations of pathogenicity 369680 rs1057516045 1:225591106-225591106 1:225403404-225403404
9 LBR NM_002296.4(LBR):c.1366C>G (p.Leu456Val)SNV Uncertain significance 426800 rs377110126 1:225594483-225594483 1:225406781-225406781

UniProtKB/Swiss-Prot genetic disease variations for Pelger-Huet Anomaly:

73 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 LBR p.Pro119Leu VAR_017841 rs137852605
2 LBR p.Pro569Arg VAR_017842 rs137852606

Sources

Expression for Pelger-Huet Anomaly

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Search GEO for disease gene expression data for Pelger-Huet Anomaly.
Sources

Pathways for Pelger-Huet Anomaly

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Pathways related to Pelger-Huet Anomaly according to GeneCards Suite gene sharing:

(showing 9, show less)
# Super pathways Score Top Affiliating Genes
1
Cell Cycle, Mitotic 65
Show member pathways
 13.02 SYNE1 SUN1 NUP133 LMNB1 LMNA LEMD3
2
Transport of the SLBP independent Mature mRNA 65
Show member pathways
 12.93 NUP133 LMNB1 LMNA LEMD3 LEMD2 EMD
3
Mitotic Metaphase and Anaphase 65
Show member pathways
 12.35 NUP133 LMNB1 LMNA LEMD3 LEMD2 EMD
4
Cytoskeletal Signaling 4
12.19 LMNB2 LMNB1 LMNA EMD
5
Meiosis 65
Show member pathways
 12.13 SYNE1 SUN1 LMNB1 LMNA
6
Mitotic Prophase 65
Show member pathways
 12.06 NUP133 LMNB1 LMNA LEMD3 LEMD2 EMD
7
Apoptosis and survival Caspase cascade 22
Show member pathways
 11.89 LMNB2 LMNB1 LMNA
8
Granzyme Pathway 63
Show member pathways
 11.22 LMNB2 LMNB1 LMNA
9
Initiation of Nuclear Envelope Reformation 65
Show member pathways
 10.54 LMNB1 LMNA LEMD3 LEMD2 EMD
Sources

GO Terms for Pelger-Huet Anomaly

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Cellular components related to Pelger-Huet Anomaly according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.22 U2AF1 SYNE1 SUN1 NUP133 LUC7L2 LMNB2
2 nuclear envelope GO:0005635 9.81 SYNE1 SUN1 NUP133 LMNB2 LMNB1 LMNA
3 nuclear speck GO:0016607 9.73 U2AF1 LUC7L2 LMNA AKAP8L
4 nuclear membrane GO:0031965 9.65 SYNE1 SUN1 NUP133 LMNB2 LMNB1 LMNA
5 integral component of nuclear inner membrane GO:0005639 9.56 SUN1 LEMD3 LEMD2 LBR
6 lamin filament GO:0005638 9.5 LMNB2 LMNB1 LMNA
7 nuclear outer membrane GO:0005640 9.46 SYNE1 EMD
8 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.37 SYNE1 SUN1
9 nuclear inner membrane GO:0005637 9.23 TM7SF2 SUN1 LMNB2 LMNB1 LEMD3 LEMD2

Biological processes related to Pelger-Huet Anomaly according to GeneCards Suite gene sharing:

(showing 8, show less)
# Name GO ID Score Top Affiliating Genes
1 nuclear-transcribed mRNA catabolic process GO:0000956 9.43 NBAS DHX34
2 mitotic nuclear envelope reassembly GO:0007084 9.4 LMNA EMD
3 regulation of intracellular signal transduction GO:1902531 9.37 LEMD3 LEMD2
4 cytoskeletal anchoring at nuclear membrane GO:0090286 9.32 SYNE1 SUN1
5 negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:2000623 9.26 NBAS DHX34
6 nuclear matrix anchoring at nuclear membrane GO:0090292 9.16 SYNE1 SUN1
7 nucleus organization GO:0006997 9.13 SYNE1 LMNA LEMD3
8 nuclear envelope organization GO:0006998 8.92 SUN1 LMNA LEMD3 LEMD2

Molecular functions related to Pelger-Huet Anomaly according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 TM7SF2 LBR
2 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor GO:0016628 9.16 TM7SF2 LBR
3 delta14-sterol reductase activity GO:0050613 8.96 TM7SF2 LBR
4 lamin binding GO:0005521 8.92 SYNE1 SUN1 LBR AKAP8L
Sources

Sources for Pelger-Huet Anomaly

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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