KEGG DISEASE: Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly

KEGG

DISEASE: Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly

Entry

H02732                      Disease

Name

Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly;
Regressive spondylometaphyseal dysplasia

Description

Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly (SKPHA), also known as regressive spondylometaphyseal dysplasia, is an autosomal recessive disorder characterized by both short stature and other skeletal anomalies with or without abnormal blood granulocyte nuclear shape. SKPHA has been linked to homozygous mutations or compound heterozygous mutations in LBR.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02732  Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H02732  Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly

Pathway

Cytoskeleton in muscle cells

Network

nt06539 Cytoskeleton in muscle cells

Gene

LBR [HSA:3930] [KO:K19532]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Collins M, Miranda V, Rousseau J, Kratz LE, Campeau PM

Title

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huet anomaly.

Journal

Bone 141:115601 (2020)
DOI:10.1016/j.bone.2020.115601

Reference

Authors

Borovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM

Title

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.

Journal

Am J Med Genet A 161A:2066-73 (2013)
DOI:10.1002/ajmg.a.36019

LinkDB

» Japanese version

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