PHASK
MCID: PLG010
MIFTS: 15

Pelger-Huet Anomaly with Mild Skeletal Anomalies (PHASK)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Pelger-Huet Anomaly with Mild Skeletal Anomalies

MalaCards integrated aliases for Pelger-Huet Anomaly with Mild Skeletal Anomalies:

Name: Pelger-Huet Anomaly with Mild Skeletal Anomalies 58 76 6
Regressive Spondylometaphyseal Dysplasia 58 60 76
Phask 58 76

Characteristics:

Orphanet epidemiological data:

60
regressive spondylometaphyseal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

OMIM 58 618019
ICD10 via Orphanet 35 Q77.8
Orphanet 60 ORPHA448267
MedGen 43 CN248525

Summaries for Pelger-Huet Anomaly with Mild Skeletal Anomalies

OMIM : 58 Pelger-Huet anomaly with mild skeletal anomalies is characterized by abnormal nuclear shape and chromatin organization in blood granulocytes (PHA), short stature, and mild skeletal anomalies (Hoffmann et al., 2002; Borovik et al., 2013). Initial skeletal features may improve with age (Sobreira et al., 2014). (618019)

MalaCards based summary : Pelger-Huet Anomaly with Mild Skeletal Anomalies, is also known as regressive spondylometaphyseal dysplasia. An important gene associated with Pelger-Huet Anomaly with Mild Skeletal Anomalies is LBR (Lamin B Receptor). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 76 Pelger-Huet anomaly with mild skeletal anomalies: A disease characterized by abnormal nuclear shape and chromatin organization in blood granulocytes, short stature, and mild skeletal anomalies. Initial skeletal features may improve with age.

Related Diseases for Pelger-Huet Anomaly with Mild Skeletal Anomalies

Symptoms & Phenotypes for Pelger-Huet Anomaly with Mild Skeletal Anomalies

Clinical features from OMIM:

618019

Drugs & Therapeutics for Pelger-Huet Anomaly with Mild Skeletal Anomalies

Search Clinical Trials , NIH Clinical Center for Pelger-Huet Anomaly with Mild Skeletal Anomalies

Genetic Tests for Pelger-Huet Anomaly with Mild Skeletal Anomalies

Anatomical Context for Pelger-Huet Anomaly with Mild Skeletal Anomalies

MalaCards organs/tissues related to Pelger-Huet Anomaly with Mild Skeletal Anomalies:

42
Bone

Publications for Pelger-Huet Anomaly with Mild Skeletal Anomalies

Articles related to Pelger-Huet Anomaly with Mild Skeletal Anomalies:

# Title Authors Year
1
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. ( 25348816 )
2015
2
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. ( 23824842 )
2013
3
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). ( 12118250 )
2002

Variations for Pelger-Huet Anomaly with Mild Skeletal Anomalies

ClinVar genetic disease variations for Pelger-Huet Anomaly with Mild Skeletal Anomalies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LBR NM_194442.2(LBR): c.1565-10_1565-5del deletion Pathogenic rs886037616 GRCh37 Chromosome 1, 225592233: 225592238
2 LBR NM_194442.2(LBR): c.1565-10_1565-5del deletion Pathogenic rs886037616 GRCh38 Chromosome 1, 225404531: 225404536
3 LBR NM_002296.3(LBR): c.1366C> G (p.Leu456Val) single nucleotide variant Uncertain significance rs377110126 GRCh37 Chromosome 1, 225594483: 225594483
4 LBR NM_002296.3(LBR): c.1366C> G (p.Leu456Val) single nucleotide variant Uncertain significance rs377110126 GRCh38 Chromosome 1, 225406781: 225406781
5 LBR NM_194442.2(LBR): c.651_653delCATinsTGATGAGAAA (p.Ile218Aspfs) indel Pathogenic GRCh38 Chromosome 1, 225418168: 225418170
6 LBR NM_194442.2(LBR): c.651_653delCATinsTGATGAGAAA (p.Ile218Aspfs) indel Pathogenic GRCh37 Chromosome 1, 225605870: 225605872
7 LBR NM_194442.2(LBR): c.1757G> A (p.Arg586His) single nucleotide variant Pathogenic rs573510559 GRCh37 Chromosome 1, 225591096: 225591096
8 LBR NM_194442.2(LBR): c.1757G> A (p.Arg586His) single nucleotide variant Pathogenic rs573510559 GRCh38 Chromosome 1, 225403394: 225403394
9 LBR LBR, ARG76TER undetermined variant Pathogenic
10 LBR LBR, ASN547SER undetermined variant Pathogenic

Expression for Pelger-Huet Anomaly with Mild Skeletal Anomalies

Search GEO for disease gene expression data for Pelger-Huet Anomaly with Mild Skeletal Anomalies.

Pathways for Pelger-Huet Anomaly with Mild Skeletal Anomalies

GO Terms for Pelger-Huet Anomaly with Mild Skeletal Anomalies

Sources for Pelger-Huet Anomaly with Mild Skeletal Anomalies

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63 PubMed
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70 SNOMED-CT via HPO
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74 UMLS
75 UMLS via Orphanet
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