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, liver and thyroid, 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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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 52)
idRelated DiseaseScoreTop Affiliating Genes
1short stature, optic nerve atrophy, and pelger-huet anomaly13.0
2pseudo pelger-huet anomaly12.8
3progressive hemifacial atrophy11.8
4pseudohypoaldosteronism type i, autosomal dominant11.7
5pseudohypoaldosteronism, type i11.5
6greenberg skeletal dysplasia10.9
7hepatitis10.7
8vasculitis10.7
9lupus erythematosus10.7
10rheumatoid arthritis10.5
11systemic lupus erythematosus10.5
12hepatocellular carcinoma10.5
13breast cancer10.5
14keratitis10.5
15marfan syndrome10.5
16arthritis10.5
17insulinoma10.5
18neutropenia10.5
19lymphoma10.5
20photosensitive epilepsy10.5
21goiter10.5
22hepatic coma10.5
23nodular goiter10.5
24hypothyroidism10.5
25hepatitis c10.5
26langerhans-cell histiocytosis10.5
27interstitial lung disease10.5
28histiocytosis10.5
29cerebritis10.5
30extramedullary plasmacytoma10.5
31plasmacytoma10.5
32endophthalmitis10.5
33central nervous system vasculitis10.5
34acute disseminated encephalomyelitis10.5
35peritonitis10.5
36corneal ulcer10.5
37lung disease10.5
38hemophilia10.5
39carcinoid syndrome10.5
40chylous ascites10.5
41hypoxia10.5
42endotheliitis10.5
43paraquat poisoning10.5
44discoid lupus erythematosus10.5
45reynolds syndrome9.9LBR, LMNB1
46pancreatic serous cystadenoma9.9LMNA, LMNB1
47enamel hypoplasia cataract hydrocephaly9.8EMD, LMNA
48hutchinson-gilford progeria9.8LMNA, LMNB1
49emery-dreifuss muscular dystrophy 2, ad9.8EMD, LMNA
50x-linked hypophosphatemic rickets9.6EMD, LMNA

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, Liver, Thyroid, T cells, Skin, B cells, Endothelial

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
IgG4+ B-Cell Receptor Clones Distinguish IgG4-Related Disease from Primary Sclerosing Cholangitis and Biliary/Pancreatic Malignancies. (27015613)
2016
2
MEN1 mutations in HA1rthle cell (oncocytic) thyroid carcinoma. (25625803)
2015
3
Inhibition of R5-tropic HIV type-1 replication in CD4a8_ natural killer T cells by I^I' T lymphocytes. (24266436)
2014
4
Should high-dose steroid therapy and inhaled nitric oxide be considered for adult patients with H1N1 respiratory failure? (23476736)
2013
5
Extrarenal Wilms tumor: a case report and review of the literature. (23845655)
2013
6
Effects of extended release methylphenidate treatment on ratings of attention-deficit/hyperactivity disorder (ADHD) and associated behavior in children with autism spectrum disorders and ADHD symptoms. (23782128)
2013
7
Proposal of autoimmune hepatitis presenting with acute hepatitis, severe hepatitis and acute liver failure. (21554505)
2011
8
Exocyst complex component 3-like 2 (EXOC3L2) associates with the exocyst complex and mediates directional migration of endothelial cells. (21566143)
2011
9
Micro RNA -214,-150,-146a and-125b target Huntingtin gene. (22048026)
2011
10
A meta-analysis of tumor control rates and treatment-related morbidity for patients with glomus jugulare tumors. (21029039)
2011
11
Actinic keratosis on a continuum with squamous cell carcinoma. (20713835)
2010
12
Immune response of broiler chickens fed different levels of arginine and vitamin E to a coccidiosis vaccine and Eimeria challenge. (20709971)
2010
13
Contribution of magnesium in binding of factor IXa to the phospholipid surface: implications for vitamin K-dependent coagulation proteins. (19817987)
2009
14
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. (19602481)
2009
15
Abnormal expression of voltage-gated sodium channels Nav1.7, Nav1.3 and Nav1.8 in trigeminal neuralgia. (19699781)
2009
16
Multimerization and DNA binding properties of INI1/hSNF5 and its functional significance. (19398554)
2009
17
Toriello-Carey syndrome phenotype and chromosome anomalies. (18074373)
2008
18
Na+/Ca2+ exchanger (NCX1) and cardiovascular disease]. (17435337)
2007
19
Congenital plaque on the chest. Diagnosis: solitary giant congenital juvenile xanthogranuloma. (17376208)
2007
20
Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia. (16891421)
2006
21
The serotonin transporter promotor polymorphism 5-HTTLPR is not associated with alcoholism or severe forms of alcohol withdrawal in a German sample. (17106419)
2006
22
Unilateral multifocal inverted papilloma of the maxillary and frontal sinus. (16798404)
2006
23
p53 mutations are common in human papillomavirus type 38-positive non-melanoma skin cancers. (15145527)
2004
24
A case of anti-p200 pemphigoid clinically mimicking inflammatory epidermolysis bullosa acquisita. (12786845)
2003
25
Caspase cleavage product of BAP31 induces mitochondrial fission through endoplasmic reticulum calcium signals, enhancing cytochrome c release to the cytosol. (12668660)
2003
26
Legg-CalvAc-Perthes disease: current concepts. (12064127)
2002
27
The SCAN domain of ZNF174 is a dimer. (11741982)
2002
28
Molecular analysis of the Pi*Z allele in patients with liver disease. (11754061)
2001
29
Familial CD8 deficiency due to a mutation in the CD8 alpha gene. (11435463)
2001
30
A novel process for mutation detection using uracil DNA-glycosylase. (9443974)
1998
31
Nonisotopic single strand conformation analysis of the 5 alpha-reductase type 2 gene for the diagnosis of 5 alpha-reductase deficiency. (8784107)
1996
32
Human chromosome 19 contains the neurotrophin-5 gene locus and three related genes that may encode novel acidic neurotrophins. (1496419)
1992
33
A new variant of von Willebrand disease (type II I) with a normal degree of proteolytic cleavage of von Willebrand factor. (1631800)
1992
34
Granulocyte-macrophage colony-stimulating factor (GM-CSF) in the management of cancer. (1810441)
1991
35
Rotavirus infection in children with acute diarrhea in Tehran. (12319709)
1990
36
Further evidence for an association between the XbaI polymorphism at the apolipoprotein B locus and lipoprotein level. (2906824)
1988

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