MCID: PLG001
MIFTS: 45

Pelger-Huet Anomaly malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Pelger-Huet Anomaly

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Aliases & Descriptions for Pelger-Huet Anomaly:

Name: Pelger-Huet Anomaly 49 10 11 45 22 47 12 67 36 65
Pha 45 22 67
Pelger Huet Anomaly 45 24
 
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities 45
Pelger-Huet Nuclear Anomaly 45

Characteristics:

HPO:

61
pelger-huet anomaly:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 169400
Disease Ontology10 DOID:9631
MeSH36 D010381
SNOMED-CT59 191356000, 85559002
NCIt42 C85002
MedGen34 C0030779
UMLS65 C0030779

Summaries for Pelger-Huet Anomaly

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NIH Rare Diseases:45 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 short stature, optic nerve atrophy, and pelger-huet anomaly and pseudo pelger-huet anomaly, and has symptoms including abnormality of chromosome segregation, intellectual disability and mild short stature. An important gene associated with Pelger-Huet Anomaly is LBR (Lamin B Receptor), and among its related pathways are Granzyme Pathway and Mitotic Metaphase and Anaphase. Affiliated tissues include neutrophil, endothelial and lung, and related mouse phenotypes are vision/eye and craniofacial.

UniProtKB/Swiss-Prot:67 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:68 Pelger–Huët anomaly (pronunciation: [pel′gər hyo̅o̅′ət]) is a blood laminopathy associated... more...

Description from OMIM:49 169400

Related Diseases for Pelger-Huet Anomaly

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



Diseases related to pelger-huet anomaly

Symptoms for Pelger-Huet Anomaly

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Symptoms by clinical synopsis from OMIM:

169400

Clinical features from OMIM:

169400

HPO human phenotypes related to Pelger-Huet Anomaly:

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

Drugs & Therapeutics for Pelger-Huet Anomaly

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pelger-Huet Anomaly


Cochrane evidence based reviews: pelger-huet anomaly

Genetic Tests for Pelger-Huet Anomaly

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Genetic tests related to Pelger-Huet Anomaly:

id Genetic test Affiliating Genes
1 Pelger-Huet Anomaly22 LBR

Anatomical Context for Pelger-Huet Anomaly

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MalaCards organs/tissues related to Pelger-Huet Anomaly:

33
Neutrophil, Endothelial, Lung, Bone, Skin, B cells, T cells

Animal Models for Pelger-Huet Anomaly or affiliated genes

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MGI Mouse Phenotypes related to Pelger-Huet Anomaly:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.0CEBPE, DISP1, LBR, LMNA
2MP:00053828.8DISP1, LBR, LMNA, LMNB1
3MP:00053888.4CEBPE, DISP1, LBR, LMNA, LMNB1
4MP:00053698.4DISP1, EMD, LMNA, LMNB1
5MP:00053908.1CEBPE, DISP1, LBR, LMNA, LMNB1
6MP:00053847.5CEBPE, DISP1, EMD, LBR, LMNA, LMNB1

Publications for Pelger-Huet Anomaly

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Articles related to Pelger-Huet Anomaly:

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

Variations for Pelger-Huet Anomaly

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

67
id Symbol AA change Variation ID SNP ID
1LBRp.Pro119LeuVAR_017841
2LBRp.Pro569ArgVAR_017842

Clinvar genetic disease variations for Pelger-Huet Anomaly:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LBRNM_194442.2(LBR): c.32_35delTGGT (p.Val11Glufs)deletionPathogenicrs863223326GRCh37Chr 1, 225611743: 225611746
2LBRLBR, 6-BP DEL, IVS12AS, -5-10deletionPathogenic
3LBRLBR, IVS2AS, A-G, -2single nucleotide variantPathogenic
4LBRNM_194442.2(LBR): c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter)indelPathogenicrs387906416GRCh37Chr 1, 225592188: 225592194
5LBRNM_194442.2(LBR): c.356C> T (p.Pro119Leu)single nucleotide variantPathogenicrs137852605GRCh37Chr 1, 225609789: 225609789
6LBRLBR, IVS11AS, A-G, -9single nucleotide variantPathogenic
7LBRNM_194442.2(LBR): c.1706C> G (p.Pro569Arg)single nucleotide variantPathogenicrs137852606GRCh37Chr 1, 225591147: 225591147

Expression for genes affiliated with Pelger-Huet Anomaly

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

Pathways for genes affiliated with Pelger-Huet Anomaly

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GO Terms for genes affiliated with Pelger-Huet Anomaly

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

idNameGO IDScoreTop Affiliating Genes
1nuclear membraneGO:00319659.4LMNA, LMNB1

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

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope disassemblyGO:00070779.2EMD, LMNA

Sources for Pelger-Huet Anomaly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet