PHA
MCID: PLG001
MIFTS: 47

Pelger-Huet Anomaly (PHA) malady

Genetic diseases, Rare diseases, Bone diseases categories
Download this MalaCard

Summaries for Pelger-Huet Anomaly

About this section


Fully expand 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 based summary: Pelger-Huet Anomaly, also known as pelger-huet nuclear anomaly, is related to pseudo pelger-huet anomaly and short stature, optic nerve atrophy, and pelger-huet anomaly, and has symptoms including 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. The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, myeloid and bone marrow, and related mouse phenotypes are digestive/alimentary and craniofacial.

Wikipedia:65 Pelger?Hu more...

Description from OMIM:46 169400

Aliases & Classifications for Pelger-Huet Anomaly

About this section

Pelger-Huet Anomaly, Aliases & Descriptions:

Name: Pelger-Huet Anomaly 8 9 42 46 10 44 62
Pelger-Huet Nuclear Anomaly 42 62
Pelger Huet Anomaly 42 22
 
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities 42
Pha 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


External Ids:

Disease Ontology8 DOID:9631
OMIM46 169400
SNOMED-CT57 85559002, 191356000
NCIt39 C85002
MeSH34 D010381

Related Diseases for Pelger-Huet Anomaly

About this section

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 47)
idRelated DiseaseScoreTop Affiliating Genes
1pseudo pelger-huet anomaly10.8
2short stature, optic nerve atrophy, and pelger-huet anomaly10.6
3tuberculosis10.5
4hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.5
5short stature with optic atrophy and pelger-huët anomaly syndrome10.5
6chronic myeloid leukemia10.4
7epidermolysis bullosa dystrophica10.4
8hodgkin's lymphoma10.4
9leukemia10.4
10myelofibrosis10.4
11polydactyly10.4
12polycythemia vera10.4
13adenocarcinoma10.4
14epidermolysis bullosa10.4
15muscular dystrophy10.4
16myeloid leukemia10.4
17neuroblastoma10.4
18pneumonia10.4
19polycythemia10.4
20autosomal dominant pseudohypoaldosteronism type 110.4
21short stature10.4
22reynolds syndrome10.2LBR
23pseudohypoaldosteronism10.1
24pancreatitis10.1
25b-cell lymphomas10.0
26burkitt's lymphoma10.0
27diffuse large b-cell lymphoma10.0
28hiv-110.0
29multiple sclerosis10.0
30systemic lupus erythematosus10.0
31tuberculoid leprosy10.0
32pernicious anemia10.0
33actinic keratosis10.0
34digeorge syndrome10.0
35agammaglobulinemia10.0
36breast cancer10.0
37colon cancer10.0
38keratosis10.0
39leprosy10.0
40lupus erythematosus10.0
41pleurisy10.0
42atopy10.0
43immunodeficiency-centromeric instability-facial anomalies syndrome 110.0
44type 2 diabetes mellitus10.0LBR, LMNA
45lipodystrophy9.8LMNA, LMNB2
46emery-dreifuss muscular dystrophy9.6LMNA, LMNB2, LBR
47lung cancer9.6LBR, LMNA, HGS

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



Diseases related to pelger-huet anomaly

Symptoms for Pelger-Huet Anomaly

About this section

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 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

Drugs & Therapeutics for Pelger-Huet Anomaly

About this section

Drug clinical trials:

Search ClinicalTrials for Pelger-Huet Anomaly

Search NIH Clinical Center for Pelger-Huet Anomaly

Genetic Tests for Pelger-Huet Anomaly

About this section

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

MalaCards organs/tissues related to Pelger-Huet Anomaly:

32
Neutrophil, Myeloid, Bone marrow, Bone, Colon

Animal Models for Pelger-Huet Anomaly or affiliated genes

About this section

MGI Mouse Phenotypes related to Pelger-Huet Anomaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.9HGS, LMNA, LBR
2MP:00053828.6LBR, LMNA, LMNB2
3MP:00053888.3LBR, LMNA, LMNB2
4MP:00053898.2HGS, LMNB2, LMNA, LBR
5MP:00053848.2LBR, LMNA, LMNB2, HGS
6MP:00036318.1HGS, LMNB2, LMNA, LBR
7MP:00053788.0HGS, LMNB2, LMNA, LBR

Publications for Pelger-Huet Anomaly

About this section

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

Variations for Pelger-Huet Anomaly

About this section

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

64
id Symbol AA change Variation ID SNP ID
1LBRp.Pro119LeuVAR_017841
2LBRp.Pro569ArgVAR_017842

Clinvar genetic disease variations for Pelger-Huet Anomaly:

6
id Gene Name Type Significance SNP ID Assembly Location
1LBRLBR, 4-BP DEL, 32TGGTdeletionPathogenic
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

About this section
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

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2LMNB2, LBR
2
Show member pathways
9.0LMNB2, LMNA
39.0LMNB2, LMNA
49.0LMNA, LMNB2
5
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
9.0LMNA, LMNB2
6
Show member pathways
FAS pathway and Stress induction of HSP regulation37
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis37
9.0LMNB2, LMNA
7
Show member pathways
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 249.9HGS, LMNA, LBR

GO Terms for genes affiliated with Pelger-Huet Anomaly

About this section

Cellular components related to Pelger-Huet Anomaly according to GeneCards/GeneDecks:

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

Molecular functions related to Pelger-Huet Anomaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.0LMNB2, LMNA

Products for genes affiliated with Pelger-Huet Anomaly

About this section
  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet