PHA
MCID: PLG001
MIFTS: 45

Pelger-Huet Anomaly (PHA) malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Pelger-Huet Anomaly

Aliases & Descriptions for Pelger-Huet Anomaly:

Name: Pelger-Huet Anomaly 54 12 50 24 66 13 52 42 14 69
Pha 50 24 66
Pelger Huet Anomaly 50 29
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities 50
Pelger-Huet Nuclear Anomaly 50

Characteristics:

HPO:

32
pelger-huet anomaly:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 169400
Disease Ontology 12 DOID:9631
MeSH 42 D010381
NCIt 47 C85002
SNOMED-CT 64 191356000 85559002
MedGen 40 C0030779
UMLS 69 C0030779

Summaries for Pelger-Huet Anomaly

NIH Rare Diseases : 50 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. last updated: 4/25/2016

MalaCards based summary : Pelger-Huet Anomaly, also known as pha, is related to greenberg skeletal dysplasia and short stature, optic nerve atrophy, and pelger-huet anomaly, and has symptoms including macrocephaly, hypertelorism and frontal bossing. 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 bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

UniProtKB/Swiss-Prot : 66 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 : 71 Pelger–Huët anomaly (pronunciation: [pel′gər hyo̅o̅′ət]) is a blood laminopathy associated... 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 38)
id Related Disease Score Top Affiliating Genes
1 greenberg skeletal dysplasia 30.6 DISP1 EMD LBR LMNA LMNB1 LMNB2
2 short stature, optic nerve atrophy, and pelger-huet anomaly 12.6
3 pseudo pelger-huet anomaly 12.4
4 hemifacial atrophy, progressive 11.5
5 pseudohypoaldosteronism type i, autosomal dominant 11.5
6 pseudohypoaldosteronism 11.1
7 pseudohypoaldosteronism, type i 11.0
8 tuberculosis 10.2
9 retinitis pigmentosa 38 10.1 EMD LMNA
10 endolymphatic sac tumor 10.1 EMD LMNA
11 cardiomyopathy, dilated, 1a 10.1 EMD LMNA
12 lymphoma 10.1
13 polydactyly 10.1
14 epidermolysis bullosa 10.1
15 adenocarcinoma 10.1
16 pneumonia 10.1
17 neuroblastoma 10.1
18 polycythemia 10.1
19 myeloid leukemia 10.1
20 muscular dystrophy 10.1
21 epidermolysis bullosa dystrophica 10.1
22 leukemia 10.1
23 myelofibrosis 10.1
24 arthrogryposis, distal, type 8 10.1 EMD LMNA
25 mandibuloacral dysplasia 10.1 EMD LMNA
26 lipodystrophy, familial partial, 2 10.1 EMD LMNA
27 congenital myasthenic syndrome 19 10.0 EMD LMNA
28 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 EMD LMNA
29 mosaic trisomy 1 10.0 EMD LMNA
30 retinitis pigmentosa 18 10.0 EMD LMNA
31 microcephaly and chorioretinopathy 2 10.0 EMD LMNA
32 mitochondrial complex iii deficiency, nuclear type 8 10.0 LMNA LMNB1
33 hyperphosphatemia 9.9 EMD LMNA
34 heart-hand syndrome, slovenian type 9.9 LMNA LMNB1
35 thymus clear cell carcinoma 9.9 EMD LMNA LMNB2
36 diffuse lipomatosis 9.7 LMNA LMNB1
37 ventricular tachycardia, catecholaminergic polymorphic, 1 9.6 LBR LMNA LMNB1 LMNB2
38 parametrium malignant neoplasm 9.4 EMD 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 by clinical synopsis from OMIM:

169400

Clinical features from OMIM:

169400

Human phenotypes related to Pelger-Huet Anomaly:

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

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

26
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 LMNB1 LMNB2 DISP1 EMD LBR LMNA
2 craniofacial MP:0005382 9.46 DISP1 LBR LMNA LMNB1
3 muscle MP:0005369 9.35 DISP1 EMD LMNA LMNB1 LMNB2
4 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:

id Genetic test Affiliating Genes
1 Pelger-Huët Anomaly 29
2 Pelger-Huet Anomaly 24 LBR

Anatomical Context for Pelger-Huet Anomaly

MalaCards organs/tissues related to Pelger-Huet Anomaly:

39
Neutrophil, Myeloid, Bone, Colon, Bone Marrow

Publications for Pelger-Huet Anomaly

Articles related to Pelger-Huet Anomaly:

(show all 37)
id 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
Correlation between acquired pseudo-Pelger-Huet anomaly and involvement of chromosome 17 in chronic myeloid leukemia. ( 3470117 )
1987
19
Acute lymphoblastic leukaemia in a child with familial Pelger-Huet anomaly. ( 3475111 )
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
Polycythemia vera turning into myelofibrosis in an individual with Pelger-Huet anomaly of the leukocytes. ( 14435748 )
1959
36
Leucocytic shift to the left in mongolism, with some observations on segmentation inhibition and the Pelger-Huet anomaly. ( 14410007 )
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:

66
id 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
id 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.166-2A> G single nucleotide variant Pathogenic rs886037617 GRCh37 Chromosome 1, 225609981: 225609981
3 LBR NM_194442.2(LBR): c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter) indel Pathogenic rs387906416 GRCh37 Chromosome 1, 225592188: 225592194
4 LBR NM_194442.2(LBR): c.356C> T (p.Pro119Leu) single nucleotide variant Pathogenic rs137852605 GRCh37 Chromosome 1, 225609789: 225609789
5 LBR NM_194442.2(LBR): c.1484-9A> G single nucleotide variant Pathogenic rs886037618 GRCh37 Chromosome 1, 225592417: 225592417
6 LBR NM_194442.2(LBR): c.1706C> G (p.Pro569Arg) single nucleotide variant Pathogenic rs137852606 GRCh37 Chromosome 1, 225591147: 225591147
7 LBR NM_194442.2(LBR): c.32_35delTGGT (p.Val11Glufs) deletion Pathogenic rs863223326 GRCh37 Chromosome 1, 225611743: 225611746
8 LBR NM_002296.3(LBR): c.1747C> T (p.Arg583Ter) single nucleotide variant Likely pathogenic rs1057516045 GRCh37 Chromosome 1, 225591106: 225591106

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 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 LMNA LMNB1 LMNB2
2
Show member pathways
12.41 EMD LMNA LMNB1
3
Show member pathways
12.38 LMNA LMNB1 LMNB2
4
Show member pathways
12.26 EMD LMNA LMNB1
5
Show member pathways
12.04 LMNA LMNB1 LMNB2
6 11.94 EMD LMNA LMNB1 LMNB2
7
Show member pathways
11.76 LMNA LMNB1 LMNB2
8 11.7 LMNA LMNB1 LMNB2
9
Show member pathways
11.59 LMNA LMNB1
10
Show member pathways
11.1 LMNA LMNB1
11 10.89 LBR LMNB2
12
Show member pathways
10.81 LMNA LMNB1 LMNB2
13
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:

id Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 9.56 EMD LBR LMNA LMNB1
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:

id 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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