PHASK
MCID: PLG010
MIFTS: 19

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 57 72
Regressive Spondylometaphyseal Dysplasia 57 58 72 29 6
Phask 57 72

Characteristics:

Orphanet epidemiological data:

58
regressive spondylometaphyseal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 618019
ICD10 via Orphanet 33 Q77.8
Orphanet 58 ORPHA448267
MedGen 41 CN248525

Summaries for Pelger-Huet Anomaly with Mild Skeletal Anomalies

OMIM® : 57 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) (Updated 05-Apr-2021)

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 : 72 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 (Updated 05-Apr-2021)

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

Genetic tests related to Pelger-Huet Anomaly with Mild Skeletal Anomalies:

# Genetic test Affiliating Genes
1 Regressive Spondylometaphyseal Dysplasia 29 LBR

Anatomical Context for Pelger-Huet Anomaly with Mild Skeletal Anomalies

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

40
Bone

Publications for Pelger-Huet Anomaly with Mild Skeletal Anomalies

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

(show all 11)
# Title Authors PMID 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. 6 57
25348816 2015
2
Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. 6 57
23824842 2013
3
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). 57 6
12118250 2002
4
Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. 57
14684694 2003
5
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly. 57
12490533 2003
6
Pelger-Huet anomaly in an infant with multiple congenital anomalies. 57
1951327 1991
7
Homozygous form of the Pelger-Huët leukocyte anomaly in man. 57
6794302 1981
8
Abnormal nuclear morphology of leukocytes in the mouse mutant ichthyosis. 57
1101484 1975
9
[Findings in homozygous carriers of Pelger's anomaly]. 57
5880247 1965
10
Homozygous form of Pelger-Huët's nuclear anomaly in man. 57
14932764 1952
11
The Pelger-anomaly in man and rabbit; a mendelian character of the nuclei of the leucocytes. 57
15436969 1950

Variations for Pelger-Huet Anomaly with Mild Skeletal Anomalies

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LBR NM_002296.4(LBR):c.651_653delinsTGATGAGAAA (p.Ile218fs) Indel Pathogenic 545625 rs1558655670 GRCh37: 1:225605870-225605872
GRCh38: 1:225418168-225418170
2 LBR NM_002296.4(LBR):c.1757G>A (p.Arg586His) SNV Pathogenic 545626 rs573510559 GRCh37: 1:225591096-225591096
GRCh38: 1:225403394-225403394
3 LBR LBR, ARG76TER Variation Pathogenic 545627 GRCh37:
GRCh38:
4 LBR LBR, ASN547SER Variation Pathogenic 545628 GRCh37:
GRCh38:
5 LBR NM_002296.4(LBR):c.1565-10_1565-5del Microsatellite Pathogenic 9527 rs886037616 GRCh37: 1:225592233-225592238
GRCh38: 1:225404531-225404536
6 LBR NM_002296.4(LBR):c.1535G>A (p.Arg512Gln) SNV Likely pathogenic 424332 rs754049402 GRCh37: 1:225592357-225592357
GRCh38: 1:225404655-225404655
7 LBR NM_002296.4(LBR):c.1366C>G (p.Leu456Val) SNV Uncertain significance 426800 rs377110126 GRCh37: 1:225594483-225594483
GRCh38: 1:225406781-225406781

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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