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 52 11 48 24 70 12 50 39 13 68
Pha 48 24 70
Pelger Huet Anomaly 48 27
 
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities 48
Pelger-Huet Nuclear Anomaly 48

Characteristics:

HPO:

64
pelger-huet anomaly:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 169400
Disease Ontology11 DOID:9631
MeSH39 D010381
SNOMED-CT62 191356000, 85559002
NCIt45 C85002
MedGen37 C0030779

Summaries for Pelger-Huet Anomaly

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NIH Rare Diseases:48 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 macrocephaly. An important gene associated with Pelger-Huet Anomaly is LBR (Lamin B Receptor), and among its related pathways are Gastric cancer network 2 and Apoptosis Modulation and Signaling. Affiliated tissues include neutrophil, myeloid and colon, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and craniofacial.

UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes for Pelger-Huet Anomaly

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Symptoms by clinical synopsis from OMIM:

169400

Clinical features from OMIM:

169400

Human phenotypes related to Pelger-Huet Anomaly:

 64 (show all 30)
id Description HPO Frequency HPO Source Accession
1 abnormality of chromosome segregation64 hallmark (90%) HP:0002916
2 intellectual disability64 3% HP:0001249
3 macrocephaly64 2% HP:0000256
4 frontal bossing64 2% HP:0002007
5 mild short stature64 2% HP:0003502
6 abnormality of the teeth64 very rare (1%) HP:0000164
7 gingival overgrowth64 very rare (1%) HP:0000212
8 hypertelorism64 very rare (1%) HP:0000316
9 recurrent otitis media64 very rare (1%) HP:0000403
10 strabismus64 very rare (1%) HP:0000486
11 eczema64 very rare (1%) HP:0000964
12 failure to thrive64 very rare (1%) HP:0001508
13 umbilical hernia64 very rare (1%) HP:0001537
14 ventricular septal defect64 very rare (1%) HP:0001629
15 pes cavus64 very rare (1%) HP:0001761
16 thrombocytopenia64 very rare (1%) HP:0001873
17 neutropenia64 very rare (1%) HP:0001875
18 giant platelets64 very rare (1%) HP:0001902
19 generalized tonic-clonic seizures64 very rare (1%) HP:0002069
20 lower limb hyperreflexia64 very rare (1%) HP:0002395
21 kyphosis64 very rare (1%) HP:0002808
22 depressed nasal bridge64 very rare (1%) HP:0005280
23 lower limb hypertonia64 very rare (1%) HP:0006895
24 foot dorsiflexor weakness64 very rare (1%) HP:0009027
25 median cleft palate64 very rare (1%) HP:0009099
26 upper limb undergrowth64 very rare (1%) HP:0009824
27 short 3rd metacarpal64 very rare (1%) HP:0010041
28 short 4th metacarpal64 very rare (1%) HP:0010044
29 short 5th metacarpal64 very rare (1%) HP:0010047
30 hyposegmentation of neutrophil nuclei64 HP:0011447

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-3510.0LMNA, LMNB1

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1DISP1, LBR, LMNA, LMNB1
2MP:00053698.2DISP1, EMD, LMNA, LMNB1, LMNB2
3MP:00053848.0DISP1, EMD, LBR, LMNA, LMNB1, LMNB2
4MP:00053887.7DISP1, LBR, LMNA, LMNB1, LMNB2

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-Huët Anomaly27
2 Pelger-Huet Anomaly24 LBR

Anatomical Context for Pelger-Huet Anomaly

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MalaCards organs/tissues related to Pelger-Huet Anomaly:

36
Neutrophil, Myeloid, Colon, Bone, Bone marrow

Publications for Pelger-Huet Anomaly

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Articles related to Pelger-Huet Anomaly:

(show all 37)
idTitleAuthorsYear
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
Congenital Pelger-Huet anomaly in triplets. (3348208)
1988
17
Acquired Pelger-Huet anomaly in a case of non-Hodgkin's lymphoma. (3124461)
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

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

70
id Symbol AA change Variation ID SNP ID
1LBRp.Pro119LeuVAR_017841rs137852605
2LBRp.Pro569ArgVAR_017842rs137852606

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
2LBRNM_002296.3(LBR): c.1747C> T (p.Arg583Ter)SNVLikely pathogenicGRCh37Chr 1, 225591106: 225591106
3LBRNM_194442.2(LBR): c.1565-10_1565-5deldeletionPathogenicrs886037616GRCh37Chr 1, 225592233: 225592238
4LBRNM_194442.2(LBR): c.166-2A> GSNVPathogenicrs886037617GRCh37Chr 1, 225609981: 225609981
5LBRNM_194442.2(LBR): c.1599_1605delTCTTCTAinsCTAGAAG (p.Leu534Ter)indelPathogenicrs387906416GRCh37Chr 1, 225592188: 225592194
6LBRNM_194442.2(LBR): c.356C> T (p.Pro119Leu)SNVPathogenicrs137852605GRCh37Chr 1, 225609789: 225609789
7LBRNM_194442.2(LBR): c.1484-9A> GSNVPathogenicrs886037618GRCh37Chr 1, 225592417: 225592417
8LBRNM_194442.2(LBR): c.1706C> G (p.Pro569Arg)SNVPathogenicrs137852606GRCh37Chr 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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Pathways related to Pelger-Huet Anomaly according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6LBR, LMNB2
2
Show member pathways
8.7LMNA, LMNB1, LMNB2
3
Show member pathways
8.7LMNA, LMNB1, LMNB2
4
Show member pathways
8.7LMNA, LMNB1, LMNB2
5
Show member pathways
8.7LMNA, LMNB1, LMNB2
68.7LMNA, LMNB1, LMNB2
7
Show member pathways
8.7EMD, LMNA, LMNB1
8
Show member pathways
8.7EMD, LMNA, LMNB1
9
Show member pathways
8.7EMD, LMNA, LMNB1
108.2EMD, LMNA, LMNB1, LMNB2

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 matrixGO:00163639.8LMNA, LMNB1
2lamin filamentGO:00056389.3LMNA, LMNB1, LMNB2
3nuclear inner membraneGO:00056379.2EMD, LMNB1, LMNB2
4nuclear envelopeGO:00056358.4EMD, LBR, LMNA, LMNB1, LMNB2
5nuclear membraneGO:00319658.3EMD, LBR, LMNA, LMNB1

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

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope disassemblyGO:00070779.7EMD, LMNA
2mitotic nuclear envelope reassemblyGO:00070849.5EMD, LMNA

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051988.7LMNA, LMNB1, LMNB2

Sources for Pelger-Huet Anomaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet