PHA
MCID: PLG001
MIFTS: 49

Pelger-Huet Anomaly (PHA)

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Pelger-Huet Anomaly

MalaCards integrated aliases for Pelger-Huet Anomaly:

Name: Pelger-Huet Anomaly 57 12 53 74 37 13 55 44 15 40 17 72
Pha 57 53 74
Pelger-Huët Anomaly 29 6
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities 53
Pelger-Huet Nuclear Anomaly 53
Pelger Huet Anomaly 53

Characteristics:

OMIM:

57
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:

32
pelger-huet anomaly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:9631
OMIM 57 169400
KEGG 37 H00234
MeSH 44 D010381
NCIt 50 C85002
SNOMED-CT 68 85559002
MedGen 42 C0030779
UMLS 72 C0030779

Summaries for Pelger-Huet Anomaly

NIH Rare Diseases : 53 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 short stature, optic nerve atrophy, and pelger-huet anomaly and pelger-huet anomaly with mild skeletal anomalies. An important gene associated with Pelger-Huet Anomaly is LBR (Lamin B Receptor), and among its related pathways/superpathways are Mitotic Metaphase and Anaphase and Apoptosis Modulation and Signaling. Affiliated tissues include neutrophil, myeloid and bone, and related phenotypes are abnormality of chromosome segregation and macrocephaly

KEGG : 37
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 : 74 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 : 75 Pelger-HuAmore...

More information from OMIM: 169400

Related Diseases for Pelger-Huet Anomaly

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:

(show top 50) (show all 294)
# Related Disease Score Top Affiliating Genes
1 short stature, optic nerve atrophy, and pelger-huet anomaly 13.1
2 pelger-huet anomaly with mild skeletal anomalies 13.1
3 pseudo pelger-huet anomaly 12.8
4 short stature with optic atrophy and pelger-huët anomaly syndrome 12.8
5 hemifacial atrophy, progressive 12.0
6 pseudohypoaldosteronism, type i, autosomal dominant 12.0
7 pseudohypoaldosteronism, type i, autosomal recessive 11.5
8 pseudohypoaldosteronism 11.5
9 immunodeficiency-centromeric instability-facial anomalies syndrome 1 11.2
10 myelodysplastic syndrome 10.7
11 myelofibrosis 10.5
12 leukemia, acute myeloid 10.5
13 polydactyly 10.5
14 acute leukemia 10.5
15 chromosomal triplication 10.5
16 familial mediterranean fever 10.5
17 3-methylglutaconic aciduria, type iii 10.5
18 autoimmune disease 3 10.5
19 erythroleukemia, familial 10.4
20 leukemia, chronic lymphocytic 10.4
21 neutrophil migration 10.4
22 chromosome 2q35 duplication syndrome 10.4
23 myeloma, multiple 10.4
24 polycythemia vera 10.4
25 muscular dystrophy, limb-girdle, autosomal dominant 1 10.4
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
27 lymphocytic leukemia 10.4
28 hemopericardium 10.4
29 patau syndrome 10.4
30 pericardial effusion 10.4
31 leukemia 10.4
32 pancytopenia 10.4
33 mycoplasma pneumoniae pneumonia 10.4
34 epidermolysis bullosa 10.4
35 adenocarcinoma 10.4
36 epidermolysis bullosa dystrophica 10.4
37 pneumonia 10.4
38 polycythemia 10.4
39 myeloid leukemia 10.4
40 muscular dystrophy 10.4
41 albinism 10.4
42 47,xyy 10.4
43 leukemia, b-cell, chronic 10.4
44 familial acute myeloid leukemia with mutated cebpa 10.4
45 refractory anemia 10.4
46 laminopathy 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

Symptoms & Phenotypes for Pelger-Huet Anomaly

Human phenotypes related to Pelger-Huet Anomaly:

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

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Pelger-Huet Anomaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 DISP1 EMD LBR LMNA LMNB1 LMNB2
2 homeostasis/metabolism MP:0005376 9.63 DISP1 EMD LBR LMNA LMNB1 LMNB2
3 craniofacial MP:0005382 9.56 DISP1 LBR LMNA LMNB1
4 muscle MP:0005369 9.35 DISP1 EMD LMNA LMNB1 LMNB2
5 respiratory system MP:0005388 9.02 DISP1 LBR LMNA LMNB1 LMNB2

Drugs & Therapeutics for Pelger-Huet Anomaly

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

Cochrane evidence based reviews: pelger-huet anomaly

Genetic Tests for Pelger-Huet Anomaly

Genetic tests related to Pelger-Huet Anomaly:

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

Anatomical Context for Pelger-Huet Anomaly

MalaCards organs/tissues related to Pelger-Huet Anomaly:

41
Neutrophil, Myeloid, Bone, Liver, Bone Marrow, Small Intestine, Retina

Publications for Pelger-Huet Anomaly

Articles related to Pelger-Huet Anomaly:

(show top 50) (show all 233)
# Title Authors PMID Year
1
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). 38 8 71
12118250 2002
2
Lamin B-receptor mutations in Pelger-Huët anomaly. 9 38 71
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. 9 38 71
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. 38 8
12490533 2003
5
Association of acquired Pelger-Huet anomaly with taxoid therapy. 38 8
8611447 1996
6
Congenital Pelger-Huet anomaly in triplets. 38 8
3348208 1988
7
Acute lymphoblastic leukaemia in a child with familial Pelger-Huet anomaly. 38 8
3475111 1987
8
Pelger-Huët anomaly in cats. 38 8
4035941 1985
9
The Pelger-Huët anomaly of leukocytes: description of a Quebec kindred. 38 8
5686316 1968
10
Pelger-Huet anomaly of leukocytes. Report of a case and survey of incidence. 38 8
14467172 1962
11
The Pelger-Huët anomaly in three families and its use in determining the disappearance of transfused neutrophils from the peripheral blood. 38 8
13618374 1959
12
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. 71
21327084 2010
13
Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. 8
14684694 2003
14
A new morphologic classification system for acute promyelocytic leukemia distinguishes cases with underlying PLZF/RARA gene rearrangements. 8
10942370 2000
15
Acquired Pelger-Huët nuclear anomaly with tuberculosis. 8
7053717 1982
16
Studies on the Pelger anomaly in Iceland. 8
848354 1977
17
Abnormal nuclear morphology of leukocytes in the mouse mutant ichthyosis. 8
1101484 1975
18
The Pelger anomaly of leukocytes: forty-one cases in seven families. 8
13913617 1962
19
The Pelger-anomaly in man and rabbit; a mendelian character of the nuclei of the leucocytes. 8
15436969 1950
20
[Nuclear abnormalities in Pelger-Huet anomaly; progress in blood cell morphology]. 9 38
15724491 2005
21
Role of nuclear lamins in nuclear segmentation of human neutrophils. 9 38
10816760 1999
22
The Pseudo-Pelger huët Cell as a Retrospective Dosimeter: Analysis of a Radium Dial Painter Cohort. 38
29595755 2019
23
Familial case of hereditary Pelger-Huët anomaly. 38
31154564 2019
24
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. 38
31015584 2019
25
A family with congenital Pelger-Huët anomaly. 38
31041635 2019
26
Necrobiotic xanthogranuloma (without paraproteinemia) in a patient with Pelger-Huët anomaly. 38
30588610 2019
27
Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes. 38
30448303 2019
28
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. 38
30561119 2019
29
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. 38
30622725 2019
30
SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS. 38
30592236 2018
31
Stodtmeister Cells (Polymorphs with Pelger-Huët Anomaly) Showing "Faggots" in Mixed Phenotypic Acute Leukemia (T/Myeloid). 38
29398816 2018
32
[Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review]. 38
29262476 2017
33
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing. 38
28425089 2017
34
Image analysis of neutrophil nuclear morphology: Learning about phenotypic range and its reliable analysis from patients with pelger-Huët-anomaly and treated with colchicine. 38
27684937 2017
35
Lamin B Receptor: Interplay between Structure, Function and Localization. 38
28858257 2017
36
The Pseudo-Pelger HuËt Cell-A New Permanent Radiation Biomarker. 38
28121725 2017
37
Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation. 38
28115293 2017
38
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype. 38
28031453 2017
39
Hyposplenic changes and pseudo-Pelger-Huët anomaly following allogeneic stem cell transplantation. 38
27723081 2017
40
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. 38
27789416 2017
41
[Population frequency and age of mutation G5741→A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic]. 38
29369590 2016
42
Alterations in nuclear structure promote lupus autoimmunity in a mouse model. 38
27483354 2016
43
Familial Pelger-Huet Anomaly. 38
27408433 2016
44
Transient Deformation of Neutrophils in Kawasaki Disease. 38
27039225 2016
45
The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations. 38
27336722 2016
46
[Acquired Pelger-Huët anomaly/abnormal chromatin clumping of granulocytes after allogeneic hematopoietic stem cell transplantation for acute myeloid leukaemia: medication or relapse? ]. 38
26878615 2016
47
Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism. 38
27830109 2016
48
[Idiopathic dysplasia of undetermined/uncertain significance (IDUS) initially presenting erythroblastosis and hyperferritinemia]. 38
26725356 2015
49
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. 38
26286438 2015
50
Pseudo-Pelger-Huët anomaly and granulocytic dysplasia associated with human granulocytic anaplasmosis. 38
25749661 2015

Variations for Pelger-Huet Anomaly

ClinVar genetic disease variations for Pelger-Huet Anomaly:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LBR NM_194442.2(LBR): c.1565-10_1565-5del short repeat Pathogenic rs886037616 1:225592233-225592238 1:225404531-225404536
2 LBR NM_194442.2(LBR): c.166-2A> G single nucleotide variant Pathogenic 1:225609981-225609981 1:225422279-225422279
3 LBR NM_194442.2(LBR): c.1599_1605delinsCTAGAAG (p.Leu534_Leu535delinsTer) indel Pathogenic rs387906416 1:225592188-225592194 1:225404486-225404492
4 LBR NM_194442.2(LBR): c.356C> T (p.Pro119Leu) single nucleotide variant Pathogenic 1:225609789-225609789 1:225422087-225422087
5 LBR NM_194442.2(LBR): c.1484-9A> G single nucleotide variant Pathogenic 1:225592417-225592417 1:225404715-225404715
6 LBR NM_194442.2(LBR): c.1706C> G (p.Pro569Arg) single nucleotide variant Pathogenic 1:225591147-225591147 1:225403445-225403445
7 LBR NM_194442.2(LBR): c.32_35del (p.Val11fs) deletion Pathogenic rs863223326 1:225611743-225611746 1:225424041-225424044
8 LBR NM_194442.2(LBR): c.1747C> T (p.Arg583Ter) single nucleotide variant Likely pathogenic rs1057516045 1:225591106-225591106 1:225403404-225403404
9 LBR NM_194442.2(LBR): c.1366C> G (p.Leu456Val) single nucleotide variant Uncertain significance rs377110126 1:225594483-225594483 1:225406781-225406781

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

74
# Symbol AA change Variation ID SNP ID
1 LBR p.Pro119Leu VAR_017841 rs137852605
2 LBR p.Pro569Arg VAR_017842 rs137852606

Expression for Pelger-Huet Anomaly

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

Pathways for Pelger-Huet Anomaly

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 LMNB1 LMNA EMD
2
Show member pathways
12.35 LMNB2 LMNB1 LMNA
3
Show member pathways
12.24 LMNB2 LMNB1 LMNA
4
Show member pathways
12.23 LMNB1 LMNA EMD
5
Show member pathways
12.18 LMNB2 LMNB1 LMNA
6 11.95 LMNB2 LMNB1 LMNA EMD
7
Show member pathways
11.76 LMNB2 LMNB1 LMNA
8 11.7 LMNB2 LMNB1 LMNA
9
Show member pathways
11.57 LMNB1 LMNA
10 10.89 LMNB2 LBR
11
Show member pathways
10.82 LMNB2 LMNB1 LMNA
12
Show member pathways
10.32 LMNB1 LMNA EMD

GO Terms for Pelger-Huet Anomaly

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

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.65 LMNB2 LMNB1 LMNA LBR EMD
2 intermediate filament GO:0005882 9.5 LMNB2 LMNB1 LMNA
3 nuclear inner membrane GO:0005637 9.46 LMNB2 LMNB1 LBR EMD
4 nuclear envelope GO:0005635 9.35 LMNB2 LMNB1 LMNA LBR EMD
5 lamin filament GO:0005638 8.8 LMNB2 LMNB1 LMNA

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

# Name GO ID Score Top Affiliating Genes
1 mitotic nuclear envelope reassembly GO:0007084 8.62 LMNA EMD

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.32 LMNB1

Sources for Pelger-Huet Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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