Details of Disease

General Information of Disease (ID: DISCW4OI)

Disease Name Pelger-Huet anomaly
Synonyms Pelger-Huet nuclear anomaly; ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities; Pelger Huet anomaly; PHA; Pelger-Huet anomaly
Definition
An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.
Disease Hierarchy
DISFPEQA: Laminopathy
DIS3HIWD: Autosomal dominant disease
DISCW4OI: Pelger-Huet anomaly
Disease Identifiers
MONDO ID
MONDO_0008214
MESH ID
D010381
UMLS CUI
C0030779
OMIM ID
169400
MedGen ID
10617
SNOMED CT ID
85559002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CA12 TTSYM0R Strong Genetic Variation [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
MARS1 DE0K52I Strong Genetic Variation [2]
------------------------------------------------------------------------------------
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ASIC5 OT1KWTC1 Limited Biomarker [3]
SCNN1A OTE2KVZV Limited Genetic Variation [4]
SCNN1B OT61QQTL Limited Genetic Variation [5]
LBR OT1HG3HG Strong Autosomal dominant [6]
NBAS OTW9IBRI Strong Biomarker [2]
SCNN1G OTSJYQVQ Strong Biomarker [7]
------------------------------------------------------------------------------------
⏷ Show the Full List of 6 DOT(s)

References

1 Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.Hum Genet. 2011 Apr;129(4):397-405. doi: 10.1007/s00439-010-0930-4. Epub 2010 Dec 24.
2 Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.Genet Med. 2020 Mar;22(3):610-621. doi: 10.1038/s41436-019-0698-4. Epub 2019 Nov 25.
3 Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism.Hum Genet. 2003 Jan;112(1):91-7. doi: 10.1007/s00439-002-0855-7. Epub 2002 Oct 25.
4 Expression of the epithelial sodium channel (ENaC) in the endometrium - Implications for fertility in a patient with pseudohypoaldosteronism.J Steroid Biochem Mol Biol. 2018 Oct;183:137-141. doi: 10.1016/j.jsbmb.2018.06.007. Epub 2018 Jun 6.
5 Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC.J Steroid Biochem Mol Biol. 2010 Mar;119(1-2):84-8. doi: 10.1016/j.jsbmb.2010.01.002. Epub 2010 Jan 12.
6 Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Hu?t anomaly). Nat Genet. 2002 Aug;31(4):410-4. doi: 10.1038/ng925. Epub 2002 Jul 15.
7 Pseudohypoaldosteronism.Endocr Dev. 2013;24:86-95. doi: 10.1159/000342508. Epub 2013 Feb 1.