MCID: PLG001
MIFTS: 47

Pelger-Huet Anomaly

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Pelger-Huet Anomaly

MalaCards integrated aliases for Pelger-Huet Anomaly:

Name: Pelger-Huet Anomaly 57 12 53 75 37 13 55 44 15 40 73 29 6
Pha 57 53 75
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:



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 pseudo pelger-huet anomaly. An important gene associated with Pelger-Huet Anomaly is LBR (Lamin B Receptor), and among its related pathways/superpathways are TNFR1 Pathway and Mitotic Metaphase and Anaphase. Affiliated tissues include neutrophil, myeloid and colon, and related phenotypes are abnormality of the dentition and gingival overgrowth

UniProtKB/Swiss-Prot : 75 Pelger-Huet anomaly: An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure. Some individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Wikipedia : 76 Pelger–Huët anomaly (pronunciation: [pel′gər hyo̅o̅′ət]) is a blood laminopathy associated with the... 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 all 40)
# Related Disease Score Top Affiliating Genes
1 short stature, optic nerve atrophy, and pelger-huet anomaly 12.8
2 pseudo pelger-huet anomaly 12.5
3 short stature with optic atrophy and pelger-huët anomaly syndrome 12.3
4 hemifacial atrophy, progressive 11.7
5 pseudohypoaldosteronism, type i, autosomal dominant 11.6
6 pseudohypoaldosteronism 11.2
7 pseudohypoaldosteronism, type i, autosomal recessive 11.2
8 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.9
9 myelofibrosis 10.2
10 neuroblastoma 10.2
11 polycythemia vera 10.2
12 polydactyly 10.2
13 epidermolysis bullosa dystrophica 10.2
14 lymphoma 10.2
15 epidermolysis bullosa 10.2
16 adenocarcinoma 10.2
17 pneumonia 10.2
18 polycythemia 10.2
19 myeloid leukemia 10.2
20 muscular dystrophy 10.2
21 familial acute myeloid leukemia with mutated cebpa 10.2
22 emerinopathy 10.1 EMD LMNA
23 cardiomyopathy, dilated, 1h 10.1 EMD LMNA
24 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.1 EMD LMNA
25 aging 10.1
26 leukemia 10.1
27 myopathy, proximal, and ophthalmoplegia 10.1 EMD LMNA
28 muscular dystrophy, limb-girdle, type 1b 10.0 EMD LMNA
29 autosomal dominant limb-girdle muscular dystrophy 10.0 EMD LMNA
30 cardiomyopathy, dilated, 1a 10.0 EMD LMNA
31 familial partial lipodystrophy 10.0 EMD LMNA
32 muscular dystrophy, congenital, lmna-related 9.9 EMD LMNA
33 muscle tissue disease 9.9 EMD LMNA
34 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.7 LMNA LMNB1
35 congenital fiber-type disproportion 9.7 EMD LMNA
36 hutchinson-gilford progeria syndrome 9.4 LMNA LMNB1
37 atrial standstill 1 9.4 EMD LMNA
38 partial lipodystrophy 9.2 LMNA LMNB1 LMNB2
39 emery-dreifuss muscular dystrophy 9.2 EMD LMNA LMNB1
40 reynolds syndrome 8.7 LBR LMNA LMNB1 LMNB2

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



Diseases related to Pelger-Huet Anomaly

Symptoms & Phenotypes for Pelger-Huet Anomaly

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

Human phenotypes related to Pelger-Huet Anomaly:

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

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

26
# 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:

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 LMNB2 DISP1 EMD LMNA LMNB1
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, Colon, Bone, Bone Marrow

Publications for Pelger-Huet Anomaly

Articles related to Pelger-Huet Anomaly:

(show all 37)
# Title Authors Year
1
Familial Pelger-Huet Anomaly. ( 27408433 )
2016
2
Appearance of pseudo-Pelger Huet anomaly after accidental exposure to ionizing radiation in vivo. ( 25627941 )
2015
3
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. ( 23824842 )
2013
4
Severe generalized muscular atrophia, nerve optic atrophia, ear problem and disability with Pelger-Huet anomaly. ( 24024025 )
2011
5
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly. ( 20577004 )
2010
6
Pelger-Huet anomaly: a case report. ( 17883176 )
2007
7
[Nuclear abnormalities in Pelger-Huet anomaly; progress in blood cell morphology]. ( 15724491 )
2005
8
Lamin B-receptor mutations in Pelger-Huet anomaly. ( 14617022 )
2003
9
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. ( 12109788 )
2002
10
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). ( 12118250 )
2002
11
Familial Pelger--Huet anomaly in a female with adenocarcinoma of colon in a cancer prone family. ( 11198802 )
2000
12
Association of acquired Pelger-Huet anomaly with taxoid therapy. ( 8611447 )
1996
13
Familial Pelger-Huet anomaly accompanied by tuberculosis and complicated by acute polyarthritis. ( 8533050 )
1995
14
Pelger-Huet anomaly with trisomy-18 syndrome. ( 8372823 )
1993
15
Pelger-Huet anomaly in an infant with multiple congenital anomalies. ( 1951327 )
1991
16
Acquired Pelger-Huet anomaly in a case of non-Hodgkin's lymphoma. ( 3124461 )
1988
17
Congenital Pelger-Huet anomaly in triplets. ( 3348208 )
1988
18
Acute lymphoblastic leukaemia in a child with familial Pelger-Huet anomaly. ( 3475111 )
1987
19
Correlation between acquired pseudo-Pelger-Huet anomaly and involvement of chromosome 17 in chronic myeloid leukemia. ( 3470117 )
1987
20
Acquired Pelger-Huet anomaly associated with Mycoplasma pneumoniae pneumonia. ( 4025231 )
1985
21
Pelger-Huet anomaly of granulocytes in a patient with tuberculosis. ( 6690241 )
1984
22
The Pelger-Huet anomaly: a new familial association with polydactyly and trisomy 13 syndrome. ( 6414217 )
1983
23
Transfer of Pelger-Huet anomaly by bone marrow transplantation. ( 6753573 )
1982
24
Functional and metabolic studies of polymorphonuclear leukocytes in the congenital Pelger-Huet anomaly. ( 6244014 )
1980
25
Pelger-Huet anomaly and d-penicillamine. ( 7401075 )
1980
26
Pelger-Huet anomaly in Chinese family in Singapore. ( 750755 )
1978
27
Defective chemotactic migration of polymorphonuclear leukocytes in Pelger-Huet anomaly. ( 323871 )
1977
28
Familial acute myeloid leukaemia with acquired Pelger-Huet anomaly and aneuploidy of C group. ( 4508672 )
1972
29
Acquired Pelger-Huet anomaly in erythroleukemia. ( 5288439 )
1970
30
Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly. Clinical, pathologic and linkage considerations. ( 5780363 )
1969
31
Epidermolysis bullosa dystrophica, hypoplastic type, associated with Pelger-Huet anomaly. ( 6082912 )
1967
32
PELGER-HUET ANOMALY OF LEUCOCYTES: A REPORT OF 6 CASES IN INDIANS. ( 14068649 )
1963
33
Pelger-Huet anomaly of leukocytes. Report of a case and survey of incidence. ( 14467172 )
1962
34
Pelger-Huet anomaly in lymphocytic leukaemia. ( 13906076 )
1961
35
Leucocytic shift to the left in mongolism, with some observations on segmentation inhibition and the Pelger-Huet anomaly. ( 14410007 )
1959
36
Polycythemia vera turning into myelofibrosis in an individual with Pelger-Huet anomaly of the leukocytes. ( 14435748 )
1959
37
The Pelger-Huet anomaly of the leucocytes. ( 14934618 )
1952

Variations for Pelger-Huet Anomaly

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

75
# 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 rs886037617 GRCh37 Chromosome 1, 225609981: 225609981
4 LBR NM_194442.2(LBR): c.166-2A> G single nucleotide variant Pathogenic rs886037617 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 rs137852605 GRCh37 Chromosome 1, 225609789: 225609789
8 LBR NM_194442.2(LBR): c.356C> T (p.Pro119Leu) single nucleotide variant Pathogenic rs137852605 GRCh38 Chromosome 1, 225422087: 225422087
9 LBR NM_194442.2(LBR): c.1484-9A> G single nucleotide variant Pathogenic rs886037618 GRCh38 Chromosome 1, 225404715: 225404715
10 LBR NM_194442.2(LBR): c.1484-9A> G single nucleotide variant Pathogenic rs886037618 GRCh37 Chromosome 1, 225592417: 225592417
11 LBR NM_194442.2(LBR): c.1706C> G (p.Pro569Arg) single nucleotide variant Pathogenic rs137852606 GRCh37 Chromosome 1, 225591147: 225591147
12 LBR NM_194442.2(LBR): c.1706C> G (p.Pro569Arg) single nucleotide variant Pathogenic rs137852606 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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 LMNA LMNB1 LMNB2
2
Show member pathways
12.42 EMD LMNA LMNB1
3
Show member pathways
12.39 LMNA LMNB1 LMNB2
4
Show member pathways
12.26 LMNA LMNB1 LMNB2
5
Show member pathways
12.26 EMD LMNA LMNB1
6
Show member pathways
12.04 LMNA LMNB1 LMNB2
7 11.95 EMD LMNA LMNB1 LMNB2
8 11.76 LMNA LMNB1 LMNB2
9
Show member pathways
11.69 LMNA LMNB1 LMNB2
10
Show member pathways
11.6 LMNA LMNB1
11
Show member pathways
11.1 LMNA LMNB1
12 10.89 LBR LMNB2
13
Show member pathways
10.81 LMNA LMNB1 LMNB2
14
Show member pathways
10.32 EMD LMNA LMNB1

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 EMD LBR LMNA LMNB1 LMNB2
2 intermediate filament GO:0005882 9.5 LMNA LMNB1 LMNB2
3 nuclear inner membrane GO:0005637 9.46 EMD LBR LMNB1 LMNB2
4 nuclear envelope GO:0005635 9.35 EMD LBR LMNA LMNB1 LMNB2
5 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 mitotic nuclear envelope disassembly GO:0007077 8.96 EMD LMNA
2 mitotic nuclear envelope reassembly GO:0007084 8.62 EMD 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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