Pelger-Huet anomaly (PHA) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes with skeletal abnormalities.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Immune system disorders involving white cell lineages
4B0Y Other specified immune system disorders involving white cell lineages
H00234 Pelger-Huet anomaly
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H00234 Pelger-Huet anomaly
Oosterwijk JC, Mansour S, van Noort G, Waterham HR, Hall CM, Hennekam RC
Title
Congenital abnormalities reported in Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes.
Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). It is typically classified as an autoimmune disorder since there are specific autoantibodies associated with both facets of the disease (antimitochondrial antibodies for PBC and anticentromere/antitopoisomerase for SSc), and suggestive microscopical abnormalities in the skin and liver. A mutation in the Lamin B receptor gene has been discovered in the white blood cells, suggesting that nuclear signalling defects could be a cause in Reynolds syndrome.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Nonorgan specific systemic autoimmune disorders
4A43 Overlap or undifferentiated nonorgan specific systemic autoimmune disease
H01133 Reynolds syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H01133 Reynolds syndrome
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
