PHA
MCID: PLG001
MIFTS: 37

Pelger-Huet Anomaly (PHA) malady

Bone category

Summaries for Pelger-Huet Anomaly

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: 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. 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 and Autophagy. The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, colon and myeloid.

Wikipedia:64 Pelger-Huët anomaly (pronunciation: [pel′gər hyo̅o̅′ət]) is a blood laminopathy associated with... more...

Description from OMIM:47 169400

Aliases & Classifications for Pelger-Huet Anomaly

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone


Aliases & Descriptions:

pelger-huet anomaly 8 9 43 47 10 45 61
pelger huet anomaly 43 22
ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities 43
pelger-huet nuclear anomaly 43
pha 43


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Disease Ontology8 DOID:9631
NCIt40 C85002
SNOMED-CT57 191356000, 85559002
MeSH35 D010381
OMIM47 169400

Related Diseases for Pelger-Huet Anomaly

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pelger-Huet Anomaly:



Diseases related to pelger-huet anomaly

Clinical Features for Pelger-Huet Anomaly

Sources:
47OMIM
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Clinical features from OMIM:

169400

Clinical synopsis from OMIM:

169400

Drugs & Therapeutics for Pelger-Huet Anomaly

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Pelger-Huet Anomaly

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22GTR
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Genetic tests related to Pelger-Huet Anomaly:

id Genetic test Affiliating Genes
1 Pelger-huët Anomaly22

Anatomical Context for Pelger-Huet Anomaly

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33MalaCards
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MalaCards organs/tissues related to Pelger-Huet Anomaly:

33
Bone marrow, Colon, Myeloid, T cells, B lymphoblasts, B cells

Animal Models for Pelger-Huet Anomaly or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pelger-Huet Anomaly

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51PubMed
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Articles related to Pelger-Huet Anomaly:

(show all 35)
idTitleAuthorsYear
1
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. (23824842)
2013
2
Severe generalized muscular atrophia, nerve optic atrophia, ear problem and disability with Pelger-Huet anomaly. (24024025)
2011
3
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly. (20577004)
2010
4
Pelger-Huet anomaly: a case report. (17883176)
2007
5
Nuclear abnormalities in Pelger-Huet anomaly; progress in blood cell morphology]. (15724491)
2005
6
Lamin B-receptor mutations in Pelger-Huet anomaly. (14617022)
2003
7
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). (12118250)
2002
8
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
9
Familial Pelger--Huet anomaly in a female with adenocarcinoma of colon in a cancer prone family. (11198802)
2000
10
Association of acquired Pelger-Huet anomaly with taxoid therapy. (8611447)
1996
11
Familial Pelger-Huet anomaly accompanied by tuberculosis and complicated by acute polyarthritis. (8533050)
1995
12
Pelger-Huet anomaly with trisomy-18 syndrome. (8372823)
1993
13
Pelger-Huet anomaly in an infant with multiple congenital anomalies. (1951327)
1991
14
Acquired Pelger-Huet anomaly in a case of non-Hodgkin's lymphoma. (3124461)
1988
15
Congenital Pelger-Huet anomaly in triplets. (3348208)
1988
16
Correlation between acquired pseudo-Pelger-Huet anomaly and involvement of chromosome 17 in chronic myeloid leukemia. (3470117)
1987
17
Acute lymphoblastic leukaemia in a child with familial Pelger-Huet anomaly. (3475111)
1987
18
Acquired Pelger-Huet anomaly associated with Mycoplasma pneumoniae pneumonia. (4025231)
1985
19
Pelger-Huet anomaly of granulocytes in a patient with tuberculosis. (6690241)
1984
20
The Pelger-Huet anomaly: a new familial association with polydactyly and trisomy 13 syndrome. (6414217)
1983
21
Transfer of Pelger-Huet anomaly by bone marrow transplantation. (6753573)
1982
22
Functional and metabolic studies of polymorphonuclear leukocytes in the congenital Pelger-Huet anomaly. (6244014)
1980
23
Pelger-Huet anomaly and d-penicillamine. (7401075)
1980
24
Pelger-Huet anomaly in Chinese family in Singapore. (750755)
1978
25
Defective chemotactic migration of polymorphonuclear leukocytes in Pelger-Huet anomaly. (323871)
1977
26
Familial acute myeloid leukaemia with acquired Pelger-Huet anomaly and aneuploidy of C group. (4508672)
1972
27
Acquired Pelger-Huet anomaly in erythroleukemia. (5288439)
1970
28
Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly. Clinical, pathologic and linkage considerations. (5780363)
1969
29
Epidermolysis bullosa dystrophica, hypoplastic type, associated with Pelger-Huet anomaly. (6082912)
1967
30
PELGER-HUET ANOMALY OF LEUCOCYTES: A REPORT OF 6 CASES IN INDIANS. (14068649)
1963
31
Pelger-Huet anomaly of leukocytes. Report of a case and survey of incidence. (14467172)
1962
32
Pelger-Huet anomaly in lymphocytic leukaemia. (13906076)
1961
33
Polycythemia vera turning into myelofibrosis in an individual with Pelger-Huet anomaly of the leukocytes. (14435748)
1959
34
Leucocytic shift to the left in mongolism, with some observations on segmentation inhibition and the Pelger-Huet anomaly. (14410007)
1959
35
The Pelger-Huet anomaly of the leucocytes. (14934618)
1952

Genetic Variations for Pelger-Huet Anomaly

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Pelger-Huet Anomaly:

63
id Symbol AA change Variation SNP ID
1LBRp.Pro119LeuVAR_017841
2LBRp.Pro569ArgVAR_017842

Expression for genes affiliated with Pelger-Huet Anomaly

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pelger-Huet Anomaly

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

Pathways for genes affiliated with Pelger-Huet Anomaly

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore, 52QIAGEN
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Pathways related to Pelger-Huet Anomaly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2LMNB2, LBR
29.0LMNB2, LMNA
3
Apoptosis and survival Caspase cascade
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9.0LMNB2, LMNA
4
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9.0LMNA, LMNB2
5
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9.0LMNB2, LMNA
6
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9.0LMNB2, LMNA

Compounds for genes affiliated with Pelger-Huet Anomaly

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45Novoseek, 24HMDB
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Compounds related to Pelger-Huet Anomaly according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc45 249.9LMNA, LBR, HGS

GO Terms for genes affiliated with Pelger-Huet Anomaly

Sources:
16Gene Ontology
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Cellular components related to Pelger-Huet Anomaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear envelopeGO:0056359.4LMNA, LBR
2nuclear laminaGO:0056528.9LMNB2, LMNA
3intermediate filamentGO:0058828.7LMNB2, LMNA

Products for genes affiliated with Pelger-Huet Anomaly

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Sources for Pelger-Huet Anomaly

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet