Mutated Bone Microenviroment Regulators (Cytokines & Growth Factors)

Disorders of the RANK/RANKL/OPG System

Familial hydiopatic hyperphosphatasia/juvenile Paget’s disease

Familial hydiopatic hyperphosphatasia, also called juvenile Paget’s disease of bone, is a rare autosomal recessive juvenile-onset form of Paget disease, characterized by markedly accelerated bone turnover caused by osteoprotegerin deficiency (for inactivating homozygous or compound heterozygous mutation in the TNFRSF11B gene).

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Disorders of the Glycosylphosphatidylinositol Biosynthetic Pathway

Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)

Hyperphosphatasia with mental retardation syndrome (HPMRS), also called "Mabry syndrome", is a rare autosomal recessive form of intellectual disability, with facial dysmorphism, seizures, brachytelephalangy, and consistently elevated serum alkaline phosphatase (ALP).

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Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)

Hyperphosphatasia with mental retardation syndrome 3 (HPRMS3) is a rare autosomal recessive form of HPRMS (see also HPMRS1). This disease is caused by homozygous or compound heterozygous mutation in the PGAP2 gene. PGAP2 encodes a protein involved in fatty-acid glycosylphosphatidylinositol (GPI)-anchor remodeling, which occurs in the Golgi apparatus.

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Disorders of the LRP5

Van Buchem disease type 2, autosomal dominant (VBCH2)

Van Buchem disease type 2, autosomal dominant, is sclerosing bone dysplasia, that  can be caused by mutation in the Low-Density Lipoprotein Receptor-Related Protein-5 (LRP5) gene (see also VBD).

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Disorders of the Bone Morphogenetic Protein Receptor (BMPPR)

Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease of connective tissue characterized by congenital malformation of the great toes and disabling heterotopic ossification in characteristic extraskeletal sites (muscles, tendons, ligaments and connective tissues).

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Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2)

Hyperphosphatasia with mental retardation syndrome 2 (HPRMS2) is a rare autosomal recessive form of HPRMS (see also HPMRS1) , and it is caused by compound heterozygous mutation in the PIGO gene.

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Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4)

Hyperphosphatasia with mental retardation syndrome 4 (HPRMS4) is a rare autosomal recessive form of HPRMS (see also HPMRS1). This disease is caused by homozygous or compound heterozygous mutation in the PGAP3 gene, encoding a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor maturation.

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