MCID: PLG001
MIFTS: 47

Pelger-Huet Anomaly malady

Genetic diseases, Rare diseases, Bone diseases categories

Aliases & Classifications for Pelger-Huet Anomaly

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Aliases & Descriptions for Pelger-Huet Anomaly:

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


Classifications:



External Ids:

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

Summaries for Pelger-Huet Anomaly

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NIH Rare Diseases:45 Pelger-huët 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 caused by a mutation or alteration in a gene called the lamin b receptor (lbr) gene located on the long arm of chromosome 1 (1q42.1). it is important to distinguish this autosomal dominant disorder from acquired or pseudo-pelger-huët anomaly, which may be found in individuals with certain types of leukemia or myelodysplastic syndromes. last updated: 11/1/2011

MalaCards based summary: Pelger-Huet Anomaly, also known as pelger huet anomaly, is related to pseudo pelger-huet anomaly and short stature, optic nerve atrophy, and 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 DREAM Repression and Dynorphin Expression. Affiliated tissues include neutrophil, bone and myeloid, and related mouse phenotypes are craniofacial and respiratory system.

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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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 63)
idRelated DiseaseScoreTop Affiliating Genes
1pseudo pelger-huet anomaly10.9
2short stature, optic nerve atrophy, and pelger-huet anomaly10.8
3greenberg skeletal dysplasia10.5
4tuberculosis10.5
5short stature with optic atrophy and pelger-huët anomaly syndrome10.5
6neuroblastoma10.4
7epidermolysis bullosa dystrophica10.4
8leukemia10.4
9myelofibrosis10.4
10polydactyly10.4
11adenocarcinoma10.4
12epidermolysis bullosa10.4
13muscular dystrophy10.4
14myeloid leukemia10.4
15pneumonia10.4
16polycythemia10.4
17pseudohypoaldosteronism type i, autosomal dominant10.2
18pseudohypoaldosteronism, type i10.2
19pseudohypoaldosteronism10.2
20pancreatitis10.1
21pleurisy10.1
22enamel hypoplasia cataract hydrocephaly10.0EMD, LMNA
23emery-dreifuss muscular dystrophy 2, ad10.0EMD, LMNA
24sclerosing hemangioma10.0LBR, LMNA
25hypertension, essential10.0
26systemic lupus erythematosus10.0
27atopy10.0
28hiv-110.0
29renal tubular dysgenesis10.0
30breast cancer10.0
31anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.0
32leprosy10.0
33immunodeficiency-centromeric instability-facial anomalies syndrome 110.0
34digeorge syndrome10.0
35b-cell lymphomas10.0
36chronic kidney failure10.0
37congestive heart failure10.0
38diffuse large b-cell lymphoma10.0
39pernicious anemia10.0
40tuberculoid leprosy10.0
41primary hyperoxaluria10.0
42actinic keratosis10.0
43agammaglobulinemia10.0
44autonomic nervous system disease10.0
45congenital heart disease10.0
46hyperaldosteronism10.0
47keratosis10.0
48kidney disease10.0
49lupus erythematosus10.0
50renal hypertension10.0

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 32)
id Description Frequency HPO Source Accession
1 abnormality of chromosome segregation hallmark (90%) HP:0002916
2 intellectual disability 3% HP:0001249
3 macrocephaly 2% HP:0000256
4 frontal bossing 2% HP:0002007
5 mild short stature 2% HP:0003502
6 abnormality of the teeth very rare (1%) HP:0000164
7 gingival overgrowth very rare (1%) HP:0000212
8 hypertelorism very rare (1%) HP:0000316
9 recurrent otitis media very rare (1%) HP:0000403
10 strabismus very rare (1%) HP:0000486
11 eczema very rare (1%) HP:0000964
12 intellectual disability very rare (1%) HP:0001249
13 failure to thrive very rare (1%) HP:0001508
14 umbilical hernia very rare (1%) HP:0001537
15 ventricular septal defect very rare (1%) HP:0001629
16 pes cavus very rare (1%) HP:0001761
17 thrombocytopenia very rare (1%) HP:0001873
18 neutropenia very rare (1%) HP:0001875
19 giant platelets very rare (1%) HP:0001902
20 generalized tonic-clonic seizures very rare (1%) HP:0002069
21 lower limb hyperreflexia very rare (1%) HP:0002395
22 kyphosis very rare (1%) HP:0002808
23 depressed nasal bridge very rare (1%) HP:0005280
24 lower limb hypertonia very rare (1%) HP:0006895
25 foot dorsiflexor weakness very rare (1%) HP:0009027
26 median cleft palate very rare (1%) HP:0009099
27 upper limb undergrowth very rare (1%) HP:0009824
28 short 3rd metacarpal very rare (1%) HP:0010041
29 short 4th metacarpal very rare (1%) HP:0010044
30 short 5th metacarpal very rare (1%) HP:0010047
31 autosomal dominant inheritance HP:0000006
32 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
2 Pelger-Huët Anomaly24

Anatomical Context for Pelger-Huet Anomaly

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MalaCards organs/tissues related to Pelger-Huet Anomaly:

33
Neutrophil, Bone, Myeloid, Colon, Bone marrow

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:00053827.9DISP1, LBR, LMNA, LMNB1, LMNB2
2MP:00053887.7DISP1, LBR, LMNA, LMNB1, LMNB2
3MP:00053697.4DISP1, EMD, LMNA, LMNB1, LMNB2
4MP:00053847.2DISP1, EMD, LBR, LMNA, LMNB1, LMNB2

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)deletionPathogenicGRCh37Chr 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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Pathways related to Pelger-Huet Anomaly according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop 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
1lamin filamentGO:00056389.2LMNA, LMNB1, LMNB2
2nuclear matrixGO:00163639.1LMNA, LMNB1
3intermediate filamentGO:00058829.1LMNA, LMNB1, LMNB2
4nuclear inner membraneGO:00056378.6EMD, LMNB1, LMNB2
5nuclear envelopeGO:00056357.9EMD, LBR, LMNA, LMNB1, LMNB2
6nuclear membraneGO:00319657.9EMD, LBR, LMNA, LMNB1, NBAS

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

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope reassemblyGO:00070849.8EMD, LMNA
2mitotic nuclear envelope disassemblyGO:00070779.7EMD, LMNA
3muscle organ developmentGO:00075179.5EMD, LMNA
4cellular component disassembly involved in execution phase of apoptosisGO:00069218.9LMNA, LMNB1

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
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