Pelger-huet Anomaly malady

NIH Rare Diseases: 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.³⁰

MalaCards: Pelger-huet Anomaly, also known as ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities, is related to diabetes mellitus and tooth disease. An important gene associated with Pelger-huet Anomaly is LBR (lamin B receptor), and among its related pathways are Granzyme Pathway and Apoptosis and survival Caspase cascade. The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include b cells, and related mouse phenotypes are craniofacial and digestive/alimentary.

Wikipedia: Pelger-Huet anomaly is a blood laminopathy associated with the lamin B receptor.⁴⁴ more...

OMIM: 169400

Aliases & Descriptions:

pelger-huet anomaly 6 7 30 8 33 32 43 ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities 30 pelger-huet nuclear anomaly 30

pelger huet anomaly 30 pha 30

Diseases related to pelger-huet anomaly by text searches and GeneDecks gene sharing:

(show top 50)    (show all 84)

id	Related Disease	Score	Top Affiliating Genes
1	diabetes mellitus	24.5	LBR, LMNB2, LMNA
2	tooth disease	12.3	HGS, LMNA
3	reynolds syndrome	12.3	LBR, LMNB2
4	charcot-marie-tooth disease	12.2	LMNA, HGS
5	progeria	12.2	LMNB2, LMNA
6	lung carcinoma	11.9	LMNA, HGS, LBR
7	lipodystrophy	11.7	LMNB2, LMNA
8	emery-dreifuss muscular dystrophy	11.7	LMNB2, LMNA, LBR
9	immunodeficiency	11.1	LMNB2, LBR, HGS, LMNA
10	pseudo pelger-huet anomaly	10.0
11	ichthyosis	8.2
12	leukemia	8.0
13	carcinoma	7.7
14	hepatitis	7.5
15	pseudohypoaldosteronism type ii	7.5
16	autosomal recessive pseudohypoaldosteronism type 1	7.2
17	pseudohypoaldosteronism	7.2
18	myeloid leukemia	6.9
19	hypoxia	6.9
20	breast cancer	6.6
21	chronic myeloid leukemia	6.6
22	pseudohypoaldosteronism type i	6.6
23	soft tissue sarcoma	6.6
24	sarcoma	6.6
25	autosomal dominant pseudohypoaldosteronism type 1	6.3
26	colorectal cancer	6.3
27	hepatitis c	6.3
28	hepatitis b	6.3
29	hepatocellular carcinoma	6.3
30	prostatitis	6.3
31	melanoma	5.7
32	neuroblastoma	5.7
33	neuronitis	5.7
34	obesity	5.7
35	pancreatitis	5.7
36	renal cell carcinoma	5.7
37	thyroiditis	5.7
38	blindness	5.7
39	colon cancer	5.7
40	glioblastoma	5.7
41	hypertension	5.7
42	cardiomyopathy	4.8
43	multiple myeloma	4.8
44	uveitis	4.8
45	multiple sclerosis	4.8
46	von hippel-lindau disease	4.8
47	diabetic foot ulcers	4.8
48	myeloma	4.8
49	wilms tumor	4.8
50	diffuse large b-cell lymphoma	4.8

Clinical features from OMIM: 169400

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to pelger-huet anomaly:

²²

MGI Mouse Phenotypes related to pelger-huet anomaly:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	8.5	LBR, LMNB2, LMNA
2	digestive/alimentary phenotype	MP:0005381	8.5	HGS, LBR, LMNA
3	respiratory system phenotype	MP:0005388	8.4	LMNA, LMNB2, LBR
4	nervous system phenotype	MP:0003631	8.1	LMNA, LMNB2, LBR, HGS
5	cellular phenotype	MP:0005384	8.1	HGS, LBR, LMNB2, LMNA
6	growth/size phenotype	MP:0005378	8.1	LMNA, LMNB2, LBR, HGS
7	mortality/aging	MP:0010768	8.0	LMNA, LMNB2, LBR, HGS

Articles related to pelger-huet anomaly:

id	Title	Authors	Year	Affiliating Genes
1	Nuclear abnormalities in Pelger-Huet anomaly; progress in blood cell morphology (15724491)	Tomonaga M.	2005	LBR
2	Lamin B-receptor mutations in Pelger-Huet anomaly. (14617022)	Best S.... Rees D.C.	2003	LBR
3	Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly. (12490533)	Shultz L.D.... Hoffmann K.	2003	LBR
4	Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). (12118250)	Hoffmann K.... Sperling K.	2002	LBR

Genes related to pelger-huet anomaly according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	LBR	lamin B receptor	11.1	Publications
2	LMNA	lamin A/C	11.1
3	LMNB2	lamin B2	11.1
4	HGS	hepatocyte growth factor-regulated tyrosine kinase substrate	11.1

Pathways related to pelger-huet anomaly according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Granzyme Pathway36	9.2	LMNA, LMNB2
2	Apoptosis and survival Caspase cascade10	9.2	LMNA, LMNB2
3	Apoptosis and survival_Caspase cascade41	9.2	LMNA, LMNB2
4	Apoptosis and survival_FAS signaling cascades41	9.1	LMNB2, LMNA
5	Apoptosis and survival FAS signaling cascades10	9.1	LMNB2, LMNA
6	Fas Signaling36	9.0	LMNA, LMNB2
7	Cytoskeletal Signaling3	9.0	LMNA, LMNB2
8	Caspase Cascade36	8.9	LMNB2, LMNA
9	Apoptosis and Autophagy3	8.7	LMNA, LMNB2

Compounds related to pelger-huet anomaly according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	zinc32 18	9.8	LMNA, LBR, HGS

Cellular components related to pelger-huet anomaly according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nuclear envelope	GO:005635	9.3	LMNA, LBR
2	lamin filament	GO:005638	8.9	LMNA, LMNB2
3	nuclear lamina	GO:005652	8.7	LMNA, LMNB2

Molecular functions related to pelger-huet anomaly according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	structural molecule activity	GO:005198	9.0	LMNA, LMNB2