PedAM

Pediatric Disease Annotations & Medicines


	pelger-huet anomaly

Disease ID	1092
Disease	pelger-huet anomaly
Definition	Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.
Synonym	anomaly huet pelger anomaly, pelger-huet anomaly, pelger-huet nuclear anomaly, pelger-huÃ«t anomaly, pelger-huÃ«t nuclear nuclear anomaly, pelger-huet nuclear anomaly, pelger-huÃ«t ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities ovoid neutrophil nuclei, developmental delay, epilepsy, and skeletal abnormalities pelger - huet anomaly pelger huet anomaly pelger huet nuclear anomaly pelger huÃ«t anomaly pelger huÃ«t nuclear anomaly pelger-huet anomaly [disease/finding] pelger-huet nuclear anomaly pelger-huÃ«t anomaly pelger-huÃ«t anomaly (disorder) pelger-huÃ«t nuclear anomaly pha
OMIM	OMIM:169400
DOID	DOID:9631
UMLS	C0030779
MeSH	D010381
SNOMED-CT	SNOMEDCT_US_2016_09_01:85559002
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) LBR \| 3930 \| CLINVAR;CTD_human;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:46) 1666 \| DECR1 \| DISEASES 1440 \| CSF3 \| DISEASES 7043 \| TGFB3 \| DISEASES 1958 \| EGR1 \| DISEASES 2995 \| GYPC \| DISEASES 1545 \| CYP1B1 \| DISEASES 3417 \| IDH1 \| DISEASES 4001 \| LMNB1 \| DISEASES 10133 \| OPTN \| DISEASES 839 \| CASP6 \| DISEASES 63976 \| PRDM16 \| DISEASES 3930 \| LBR \| DISEASES 7108 \| TM7SF2 \| DISEASES 51594 \| NBAS \| DISEASES 84976 \| DISP1 \| DISEASES 1436 \| CSF1R \| DISEASES 8365 \| HIST1H4H \| DISEASES 290 \| ANPEP \| DISEASES 23592 \| LEMD3 \| DISEASES 6208 \| RPS14 \| DISEASES 2146 \| EZH2 \| DISEASES 811 \| CALR \| DISEASES 9920 \| KBTBD11 \| DISEASES 2932 \| GSK3B \| DISEASES 8360 \| HIST1H4D \| DISEASES 23405 \| DICER1 \| DISEASES 8294 \| HIST1H4I \| DISEASES 8363 \| HIST1H4J \| DISEASES 1717 \| DHCR7 \| DISEASES 8368 \| HIST1H4L \| DISEASES 8362 \| HIST1H4K \| DISEASES 121504 \| HIST4H4 \| DISEASES 8359 \| HIST1H4A \| DISEASES 8367 \| HIST1H4E \| DISEASES 4000 \| LMNA \| DISEASES 554313 \| HIST2H4B \| DISEASES 8370 \| HIST2H4A \| DISEASES 2010 \| EMD \| DISEASES 171023 \| ASXL1 \| DISEASES 8366 \| HIST1H4B \| DISEASES 8361 \| HIST1H4F \| DISEASES 8364 \| HIST1H4C \| DISEASES 54790 \| TET2 \| DISEASES 1859 \| DYRK1A \| DISEASES 8833 \| GMPS \| DISEASES 84823 \| LMNB2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1092
Disease	pelger-huet anomaly
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1092
Disease	pelger-huet anomaly
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137852605	NA	3930	LBR	umls:C0030779	CLINVAR	NA	0.445167327	NA	LBR	1	225422087	G	A
rs137852606	NA	3930	LBR	umls:C0030779	CLINVAR	NA	0.445167327	NA	LBR	1	225403445	G	C
rs387906416	NA	3930	LBR	umls:C0030779	CLINVAR	NA	0.445167327	NA	NA	NA	NA	NA	NA

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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