Altered Bone Matrix Proteins

Disorders in Collagen Metabolism

Nondeforming, with blue sclerae (OI type I)

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a genetically determined bone disorder in which either defective or insufficient quantities of collagen molecules are produced. OI includes a group of clinically and genetically heterogeneous disorders characterized by high risk of bone fractures, with variable degree of severity and presumed or proven defects in collagen type 1 biosynthesis.

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Progressively deforming (OI type III)

Osteogenesis imperfecta (OI) is a group of genetic disorders (see also OI type I), of which Progressively deforming OI type III is the most severe among survivors.

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Osteogenesis imperfecta with calcification in interosseous membranes and/or hypertrophic callus (OI type V)

Osteogenesis imperfecta with calcification in interosseous membranes and/or hypertrophic callus (OI type V) is a moderate form of Osteogenesis Imperfecta (see also OI type I).

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Cole-Carpenter syndrome type 1

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia. It was described for the first time in 1987, by Cole and Carpenter, as a new variant of OI (see also OI type I).

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Disorders of Alkaline Phosphatase

Adult hypophosphatasia (HPP)

Adult hypophosphatasia (HPP) is an inherited disorder of bone metabolism caused by inactivating mutations of the ALPL gene, encoding tissue non-specific alkaline phosphatase (see also Perinatal - Infantile - Childhood Hypophosphatasia (HPP)).

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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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Odontohypophosphatasia

Odontohypophosphatasia is a form of Hypophosphatasia (see also HPP) with primarily only dental manifestations, in the absence of skeletal system abnormalities, such as rickets or osteomalacia. About 150 cases have been reported to date.

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Perinatally lethal Osteogenesis Imperfecta (OI type II-A and II-B)

Perinatally lethal Osteogenesis Imperfecta (OI type II-A and II-B) is the most severe form of OI (See also OI type I). It is a lethal form with collagen abnormalities resulting in dwarfism, bone fragility, low bone mass, high risk of fractures (rib and long bone), and deformity with in utero or perinatal death.

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Common variable moderate Osteogenesis Imperfecta with normal sclerae (OI type IV)

Common variable moderate Osteogenesis Imperfecta with normal sclerae (OI type IV) is a moderate form of OI (see also OI type I). It is characterized by increased bone fragility, low bone mass (DEXA z-scores in the range of –3 to –5 SD), and susceptibility to bone fractures.

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Cole-Carpenter syndrome type 2

Cole-Carpenter syndrome type 2 is caused by compound heterozygous mutation in the SEC24D gene. It is a rare autosomal recessively inherited skeletal disorder characterized by features of osteogenesis imperfecta (see also OI type I), such as pre- and postnatal bone fragility, and in addition skull ossification defects, craniofacial dysmorphism, and short stature (see also Cole-Carpenter syndrome type 1).

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Osteoporosis-pseudoglioma syndrome, autosomal recessive (OPPG)

Focal dermal hypoplasia, or Goltz-Gorlin syndrome, is a rare syndrome, which may affect many different organs such as eyes, bones (limb malformation, osteopathia striata, costovertebral abnormalities, slipt sternum, fibrous dysplasia of bone, syndactyly, polydactyly, “lobster-clawlike” oligodactyly, short stature), teeth, and skin. 

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Perinatal - Infantile - Childhood Hypophosphatasia (HPP)

Hypophosphatasia is a rare and heterogeneous inherited disorder characterised by defective bone mineralisation due to the impaired activity of the tissue-non-specific (liver/bone/kidney) iso- enzyme of ALP (TNSALP). TNSALP activity has an essential role for bone and teeth mineralization.

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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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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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