PHA
MCID: PLG001
MIFTS: 41

Pelger-Huet Anomaly (PHA) malady

Bone diseases category

Summaries for Pelger-Huet Anomaly

About this section
Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 myeloid, bone marrow and bone.

Wikipedia:63 Pelger–Huët anomaly (pronunciation: [pel′gər hyo̅o̅′ət]) is a blood laminopathy associated... more...

Description from OMIM:46 169400

Aliases & Classifications for Pelger-Huet Anomaly

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH
See all sources

Classifications:

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


Aliases & Descriptions:

pelger-huet anomaly 8 9 42 46 10 44 60
pelger huet anomaly 42 22
ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities 42
pelger-huet nuclear anomaly 42
pha 42


External Ids:

Disease Ontology8 DOID:9631
NCIt39 C85002
SNOMED-CT56 191356000, 85559002
MeSH34 D010381
OMIM46 169400

Related Diseases for Pelger-Huet Anomaly

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Pelger-Huet Anomaly family:

Pseudo Pelger-Huet Anomaly

Diseases related to Pelger-Huet Anomaly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1pseudo pelger-huet anomaly10.7
2short stature, optic nerve atrophy, and pelger-huet anomaly10.5
3tuberculosis10.4
4hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.4
5short stature with optic atrophy and pelger-huët anomaly syndrome10.4
6polycythemia vera10.3
7polydactyly10.3
8chronic myeloid leukemia10.3
9epidermolysis bullosa dystrophica10.3
10adenocarcinoma10.3
11colon adenocarcinoma10.3
12colon cancer10.3
13epidermolysis bullosa10.3
14hodgkin's lymphoma10.3
15leukemia10.3
16muscular dystrophy10.3
17myelofibrosis10.3
18myeloid leukemia10.3
19neuroblastoma10.3
20optic atrophy10.3
21pneumonia10.3
22polycythemia10.3
23autosomal dominant pseudohypoaldosteronism type 110.3
24pseudohypoaldosteronism10.1
25pancreatitis10.1
26pleurisy10.1
27reynolds syndrome10.0LBR
28progeria10.0LMNA
29charcot-marie-tooth disease10.0LMNA
30lipodystrophy10.0LMNB2, LMNA
31emery-dreifuss muscular dystrophy10.0LMNB2, LMNA, LBR
32lung cancer10.0LMNA, LBR, HGS
33actinic keratosis9.9
34digeorge syndrome9.9
35systemic lupus erythematosus9.9
36tuberculoid leprosy9.9
37burkitt's lymphoma9.9
38pernicious anemia9.9
39diffuse large b-cell lymphoma9.9
40agammaglobulinemia9.9
41breast cancer9.9
42keratosis9.9
43leprosy9.9
44lupus erythematosus9.9
45multiple sclerosis9.9
46immunodeficiency-centromeric instability-facial anomalies syndrome 19.9

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



Diseases related to pelger-huet anomaly

Clinical Features for Pelger-Huet Anomaly

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

169400

Clinical synopsis from OMIM:

169400

Drugs & Therapeutics for Pelger-Huet Anomaly

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Pelger-Huet Anomaly

Drug clinical trials:

Search ClinicalTrials for Pelger-Huet Anomaly

Search NIH Clinical Center for Pelger-Huet Anomaly

Search CenterWatch for Pelger-Huet Anomaly

Genetic Tests for Pelger-Huet Anomaly

About this section
Sources:
22GTR
See all sources

Genetic tests related to Pelger-Huet Anomaly:

id Genetic test Affiliating Genes
1 Pelger-Huët Anomaly22

Anatomical Context for Pelger-Huet Anomaly

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Pelger-Huet Anomaly:

32
Myeloid, Bone marrow, Bone, Colon

Animal Models for Pelger-Huet Anomaly or affiliated genes

About this section

Publications for Pelger-Huet Anomaly

About this section
Sources:
50PubMed
See all sources

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

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Pelger-Huet Anomaly:

62
id Symbol AA change Variation ID SNP ID
1LBRp.Pro119LeuVAR_017841
2LBRp.Pro569ArgVAR_017842

Expression for genes affiliated with Pelger-Huet Anomaly

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
37NCBI BioSystems Database, 4Cell Signaling Technology, 12EMD Millipore, 51QIAGEN
See all sources

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
Hide members
9.0LMNB2, LMNA
4
Hide members
9.0LMNA, LMNB2
5
Hide members
9.0LMNB2, LMNA
6
Hide members
9.0LMNB2, LMNA

Compounds for genes affiliated with Pelger-Huet Anomaly

About this section
Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Pelger-Huet Anomaly according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc44 249.9LMNA, LBR, HGS

GO Terms for genes affiliated with Pelger-Huet Anomaly

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pelger-Huet Anomaly

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet