PHA
MCID: PLG001
MIFTS: 54

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 58 12 54 76 38 13 56 45 15 41 17 74
Pha 58 54 76
Pelger-Huët Anomaly 30 6
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities 54
Pelger-Huet Nuclear Anomaly 54
Pelger Huet Anomaly 54

Characteristics:

OMIM:

58
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:

33
pelger-huet anomaly:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pelger-Huet Anomaly

NIH Rare Diseases : 54 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, t cells and testes, and related phenotypes are abnormality of chromosome segregation and macrocephaly

UniProtKB/Swiss-Prot : 76 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 : 77 Pelger–Huët anomaly is a blood laminopathy associated with the lamin B... more...

Description 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 133)
# Related Disease Score Top Affiliating Genes
1 short stature, optic nerve atrophy, and pelger-huet anomaly 12.9
2 pelger-huet anomaly with mild skeletal anomalies 12.8
3 pseudo pelger-huet anomaly 12.7
4 short stature with optic atrophy and pelger-huët anomaly syndrome 12.5
5 hemifacial atrophy, progressive 11.8
6 pseudohypoaldosteronism, type i, autosomal dominant 11.8
7 pseudohypoaldosteronism, type i, autosomal recessive 11.4
8 pseudohypoaldosteronism 11.4
9 immunodeficiency-centromeric instability-facial anomalies syndrome 1 11.1
10 obstructive nephropathy 10.5
11 necrobiotic xanthogranuloma 10.4
12 myelofibrosis 10.3
13 neuroblastoma 10.3
14 polycythemia vera 10.3
15 polydactyly 10.3
16 epidermolysis bullosa dystrophica 10.3
17 leukemia 10.3
18 lymphoma 10.3
19 mycoplasma pneumoniae pneumonia 10.3
20 epidermolysis bullosa 10.3
21 adenocarcinoma 10.3
22 pneumonia 10.3
23 polycythemia 10.3
24 myeloid leukemia 10.3
25 muscular dystrophy 10.3
26 familial acute myeloid leukemia with mutated cebpa 10.3
27 breast cancer 10.2
28 arthritis 10.2
29 multiple sclerosis 10.1
30 rheumatoid arthritis 10.1
31 hepatitis 10.1
32 pulmonary alveolar microlithiasis 10.1
33 aging 10.1
34 acute leukemia 10.1
35 leukemia, acute myeloid 10.0
36 lymphocytic leukemia 10.0
37 leukemia, chronic lymphocytic 2 10.0
38 biliary cirrhosis, primary, 1 10.0
39 fish-eye disease 10.0
40 leukemia, chronic lymphocytic 10.0
41 systemic lupus erythematosus 10.0
42 primary biliary cirrhosis 10.0
43 lupus erythematosus 10.0
44 leukemia, b-cell, chronic 10.0
45 primary biliary cholangitis 10.0
46 depression 10.0
47 alzheimer disease 9.9
48 colorectal cancer 9.9
49 hepatocellular carcinoma 9.9
50 lymphoma, hodgkin, classic 9.9

Graphical network of the top 20 diseases related to Pelger-Huet Anomaly:



Diseases related to Pelger-Huet Anomaly

Symptoms & Phenotypes for Pelger-Huet Anomaly

Human phenotypes related to Pelger-Huet Anomaly:

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

Symptoms via clinical synopsis from OMIM:

58
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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.23 LMNA LMNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.23 LMNA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.23 LMNB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.23 LMNB1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.23 LMNB1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.23 LMNB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.23 LMNA

MGI Mouse Phenotypes related to Pelger-Huet Anomaly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 DISP1 LBR LEMD3 LMNA LMNB1 LMNB2
2 mortality/aging MP:0010768 9.63 DISP1 LBR LEMD3 LMNA LMNB1 LMNB2
3 craniofacial MP:0005382 9.56 DISP1 LBR LMNA LMNB1
4 muscle MP:0005369 9.26 DISP1 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 30 LBR

Anatomical Context for Pelger-Huet Anomaly

MalaCards organs/tissues related to Pelger-Huet Anomaly:

42
Neutrophil, T Cells, Testes, Bone, Spleen, Thymus, Skin

Publications for Pelger-Huet Anomaly

Articles related to Pelger-Huet Anomaly:

(show top 50) (show all 1393)
# Title Authors Year
1
High PHA density fed-batch cultivation strategies for 4HB-rich P(3HB-co-4HB) copolymer production by transformant Cupriavidus malaysiensis USMAA1020. ( 30557643 )
2019
2
Macroalgal biomass subcritical hydrolysates for the production of polyhydroxyalkanoate (PHA) by Haloferax mediterranei. ( 30268011 )
2019
3
Naturally-Derived PHA-L Protein Nanoparticle as a Radioprotector Through Activation of Toll-Like Receptor 5. ( 30480515 )
2019
4
Effect of mcl-PHA synthesis in flax on plant mechanical properties and cell wall composition. ( 30484148 )
2019
5
Application of dissolved oxygen (DO) level control for polyhydroxyalkanoate (PHA) accumulation with concurrent nitrification in surplus municipal activated sludge. ( 30633999 )
2019
6
Processability and Degradability of PHA-Based Composites in Terrestrial Environments. ( 30642041 )
2019
7
Evaluation of the anti-oxidant and anti-inflammatory effects of the methanolic extract of Ferula szowitsiana root on PHA-induced inflammation in human lymphocytes. ( 30764672 )
2019
8
Structure-activity relationship of an antimicrobial peptide, Phylloseptin-PHa: balance of hydrophobicity and charge determines the selectivity of bioactivities. ( 30774309 )
2019
9
Complete genome sequence of the halophilic PHA-producing bacterium Halomonas sp. SF2003: insights into its biotechnological potential. ( 30852675 )
2019
10
Bioplastic recovery from wastewater: A new protocol for polyhydroxyalkanoates (PHA) extraction from mixed microbial cultures. ( 30884455 )
2019
11
Necrobiotic xanthogranuloma (without paraproteinemia) in a patient with Pelger-Huët anomaly. ( 30588610 )
2018
12
Assessment of preoperative nutritional status using BIA-derived phase angle (PhA) in patients with advanced ovarian cancer: Correlation with the extent of cytoreduction and complications. ( 29550182 )
2018
13
Selecting optimal feast-to-famine ratio for a new polyhydroxyalkanoate (PHA) production system fed by valerate-dominant sludge hydrolysate. ( 29487986 )
2018
14
Fed-Batch Strategies for Production of PHA Using a Native Isolate of Halomonas venusta KT832796 Strain. ( 28918584 )
2018
15
Effects of PHA-665752 and Cetuximab Combination Treatment on In Vitro and Murine Xenograft Growth of Human Colorectal Cancer Cells with KRAS or BRAF Mutations. ( 28359236 )
2018
16
Use of TBAg/PHA ratio in distinguishing tuberculoma from cancer in solitary pulmonary nodule or mass. ( 28488310 )
2018
17
Synthetic Biology of Polyhydroxyalkanoates (PHA). ( 28567487 )
2018
18
Functional redundancy ensures performance robustness in 3-stage PHA-producing mixed cultures under variable feed operation. ( 28838619 )
2018
19
Overproduction of MCL-PHA with high 3-hydroxydecanoate Content. ( 29030961 )
2018
20
Potential for mcl-PHA production from nonanoic and azelaic acids. ( 29040817 )
2018
21
Polyhydroxyalkanoates (PHA) production from fermented crude glycerol: Study on the conversion of 1,3-propanediol to PHA in mixed microbial consortia. ( 29107910 )
2018
22
Enrichment of PHA-producing bacteria under continuous substrate supply. ( 29221761 )
2018
23
Insights into Feast-Famine polyhydroxyalkanoate (PHA)-producer selection: Microbial community succession, relationships with system function and underlying driving forces. ( 29281810 )
2018
24
Polyhydroxyalkanoates (PHA) production from phenol in an acclimated consortium: Batch study and impacts of operational conditions. ( 29305323 )
2018
25
Polyhydroxyalkanoates (PHA) production in bacterial co-culture using glucose and volatile fatty acids as carbon source. ( 29314110 )
2018
26
Light scattering on PHA granules protects bacterial cells against the harmful effects of UV radiation. ( 29349494 )
2018
27
Properties of PHA bi-, ter-, and quarter-polymers containing 4-hydroxybutyrate monomer units. ( 29360547 )
2018
28
Exploration of Global Trend on Biomedical Application of Polyhydroxyalkanoate (PHA): A Patent Survey. ( 29384069 )
2018
29
A novel biological recovery approach for PHA employing selective digestion of bacterial biomass in animals. ( 29404644 )
2018
30
Production, process optimization and molecular characterization of polyhydroxyalkanoate (PHA) by CO2 sequestering B. cereus SS105. ( 29413942 )
2018
31
Biodegradable and Biocompatible Polyhydroxy-alkanoates (PHA): Auspicious Microbial Macromolecules for Pharmaceutical and Therapeutic Applications. ( 29419813 )
2018
32
Effects of PHA-665752 and vemurafenib combination treatment on in vitro and murine xenograft growth of human colorectal cancer cells with BRAFV600E mutations. ( 29456739 )
2018
33
Development and optimization of a tumor targeting system based on microbial synthesized PHA biopolymers and PhaP mediated functional modification. ( 29497797 )
2018
34
Combined polyhydroxyalkanoates (PHA) and 1,3-propanediol production from crude glycerol: Selective conversion of volatile fatty acids into PHA by mixed microbial consortia. ( 29505919 )
2018
35
Polyhydroxyalkanoates (PHA) for therapeutic applications. ( 29525089 )
2018
36
Isolation and Characterization of PHA-Producing Bacteria from Propylene Oxide Saponification Wastewater Residual Sludge. ( 29564736 )
2018
37
PHA-4/FoxA senses nucleolar stress to regulate lipid accumulation in Caenorhabditis elegans. ( 29567958 )
2018
38
Improved intracellular PHA determinations with novel spectrophotometric quantification methodologies based on Sudan black dye. ( 29580981 )
2018
39
Analysis of Gene Expression Changes in PHA-M Stimulated Lymphocytes - Unraveling PHA Activity as Prerequisite for Dicentric Chromosome Analysis. ( 29613823 )
2018
40
Construction of Halomonas bluephagenesis capable of high cell density growth for efficient PHA production. ( 29623388 )
2018
41
Mixed culture polyhydroxyalkanoate (PHA) synthesis from nutrient rich wet oxidation liquors. ( 29679930 )
2018
42
Javamide-II Found in Coffee Is Better than Caffeine at Suppressing TNF-α Production in PMA/PHA-Treated Lymphocytic Jurkat Cells. ( 29888601 )
2018
43
Improving PHA production in a SBR of coupling PHA-storing microorganism enrichment and PHA accumulation by feed-on-demand control. ( 29896682 )
2018
44
Metabolic modeling of the substrate competition among multiple VFAs for PHA production by mixed microbial cultures. ( 29932948 )
2018
45
Manipulating the structure of medium-chain-length polyhydroxyalkanoate (MCL-PHA) to enhance thermal properties and crystallization kinetics. ( 30092307 )
2018
46
Safety assessment of petrochemical enterprise using the cloud model, PHA-LOPA and the bow-tie model. ( 30109076 )
2018
47
Fabrication and Characterization of an Electrospun PHA/Graphene Silver Nanocomposite Scaffold for Antibacterial Applications. ( 30201852 )
2018
48
Engineering NADH/NAD+ ratio in Halomonas bluephagenesis for enhanced production of polyhydroxyalkanoates (PHA). ( 30219528 )
2018
49
Synthesis and Characterization of Electroconductive PHA- graft-Graphene Nanocomposites. ( 30222322 )
2018
50
Repression of Mcl-1 expression by the CDC7/CDK9 inhibitor PHA-767491 overcomes bone marrow stroma-mediated drug resistance in AML. ( 30361682 )
2018

Variations for Pelger-Huet Anomaly

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

76
# Symbol AA change Variation ID SNP ID
1 LBR p.Pro119Leu VAR_017841 rs137852605
2 LBR p.Pro569Arg VAR_017842 rs137852606

ClinVar genetic disease variations for Pelger-Huet Anomaly:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 LBR NM_194442.2(LBR): c.1565-10_1565-5del deletion Pathogenic rs886037616 GRCh37 Chromosome 1, 225592233: 225592238
2 LBR NM_194442.2(LBR): c.1565-10_1565-5del deletion Pathogenic rs886037616 GRCh38 Chromosome 1, 225404531: 225404536
3 LBR NM_194442.2(LBR): c.166-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 1, 225609981: 225609981
4 LBR NM_194442.2(LBR): c.166-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 1, 225422279: 225422279
5 LBR NM_194442.2(LBR): c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter) indel Pathogenic rs387906416 GRCh37 Chromosome 1, 225592188: 225592194
6 LBR NM_194442.2(LBR): c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter) indel Pathogenic rs387906416 GRCh38 Chromosome 1, 225404486: 225404492
7 LBR NM_194442.2(LBR): c.356C> T (p.Pro119Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 225609789: 225609789
8 LBR NM_194442.2(LBR): c.356C> T (p.Pro119Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 225422087: 225422087
9 LBR NM_194442.2(LBR): c.1484-9A> G single nucleotide variant Pathogenic GRCh37 Chromosome 1, 225592417: 225592417
10 LBR NM_194442.2(LBR): c.1484-9A> G single nucleotide variant Pathogenic GRCh38 Chromosome 1, 225404715: 225404715
11 LBR NM_194442.2(LBR): c.1706C> G (p.Pro569Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 225591147: 225591147
12 LBR NM_194442.2(LBR): c.1706C> G (p.Pro569Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 225403445: 225403445
13 LBR NM_194442.2(LBR): c.32_35delTGGT (p.Val11Glufs) deletion Pathogenic rs863223326 GRCh37 Chromosome 1, 225611743: 225611746
14 LBR NM_194442.2(LBR): c.32_35delTGGT (p.Val11Glufs) deletion Pathogenic rs863223326 GRCh38 Chromosome 1, 225424041: 225424044
15 LBR NM_002296.3(LBR): c.1747C> T (p.Arg583Ter) single nucleotide variant Likely pathogenic rs1057516045 GRCh37 Chromosome 1, 225591106: 225591106
16 LBR NM_002296.3(LBR): c.1747C> T (p.Arg583Ter) single nucleotide variant Likely pathogenic rs1057516045 GRCh38 Chromosome 1, 225403404: 225403404

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.38 LEMD3 LMNA LMNB1
2
Show member pathways
12.33 LMNA LMNB1 LMNB2
3
Show member pathways
12.22 LMNA LMNB1 LMNB2
4
Show member pathways
12.2 LEMD3 LMNA LMNB1
5 12.03 LMNA LMNB1 LMNB2
6
Show member pathways
11.96 LMNA LMNB1 LMNB2
7
Show member pathways
11.59 LMNA LMNB1 LMNB2
8
Show member pathways
11.56 LMNA LMNB1
9 11.4 LMNA LMNB1 LMNB2
10 10.78 LBR LMNB2
11
Show member pathways
10.49 LMNA LMNB1 LMNB2

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 envelope GO:0005635 9.56 LBR LMNA LMNB1 LMNB2
2 nuclear membrane GO:0031965 9.55 LBR LEMD3 LMNA LMNB1 LMNB2
3 intermediate filament GO:0005882 9.54 LMNA LMNB1 LMNB2
4 integral component of nuclear inner membrane GO:0005639 9.32 LBR LEMD3
5 nuclear inner membrane GO:0005637 9.26 LBR LEMD3 LMNB1 LMNB2
6 lamin filament GO:0005638 8.8 LMNA LMNB1 LMNB2

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

# Name GO ID Score Top Affiliating Genes
1 nucleus organization GO:0006997 8.96 LEMD3 LMNA
2 nuclear envelope organization GO:0006998 8.62 LEMD3 LMNA

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 8.8 LMNA LMNB1 LMNB2

Sources for Pelger-Huet Anomaly

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