Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Metabolic bone disease

This group includes all kinds of familial disposition to skeletal problems, including fragility fractures, osteoporosis, osteopathy etc.

Epidemiology

To this group belong the whole spectrum from monogenic disorders, which are rare, to polygenic conditions, which are frequent. Click on the disease to study that in more detail.

Clinical Findings

The clinical picture is dominated by frequent fractures, bone pain, and sometimes extraskeletal calcifications.

Diagnosis

The diagnosis is made by clinical examination, family history, bone density measurements and x-ray. The varied laboratory findings are in detail discussed when clicking each diseases.

Pathogenesis

Not only in the bone itself but also in other organs, such as kidney, liver, gut, and parathyroid gland might be the cause of the disease.

Systematic

Hereditary bone disease
Acro-renal-ocular syndrome
Albright hereditary osteodystrophy
Bone dysplasia
Ehlers-Danlos syndrome due to tenascin-X deficiency
Familial expansile osteolysis
IVIC syndrome
Juvenile Paget disease
Kabuki syndrome
Metabolic bone disease
Hereditary Rickets
Hypophosphatasia
Adult hypophosphatasia
ALPL
Childhood hypophosphatasia
ALPL
Infantile hypophosphatasia
ALPL
Odontohypophosphatasia
ALPL
Hypophosphatemic bone and kindney disease
Disorders of the renal phosphate transporters
Hypophosphatemic rickets with hypercalciuria
SLC34A3
Idiopathic basal ganglia calcification 1
SLC20A2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLC9A3R1
FGF23-induced hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets
FGF23
Autosomal recessive hypophosphatemic rickets type 1
DMP1
Autosomal recessive hypophosphatemic rickets type 2
ENPP1
X-linked dominant hypophosphatemic rickets
PHEX
Fanconi-type hypophosphatemic rickets
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1
X-linked recessive hypophosphatemic rickets
CLCN5
OCRL
Hypophosphatemic rickets with hyperparathyroidism
KL
Osteoglophonic dysplasia
FGFR1
Raine syndrome
FAM20C
X-linked dominant hypophosphatemic rickets
PHEX
Vitamin D hydroxylation-deficient rickets type 1A
CYP27B1
Vitamin D hydroxylation-deficient rickets type 1B
CYP2R1
Vitamin D-dependent rickets, type 2A
VDR
Vitamin D-dependent rickets, type 2B
RXRA
Inherited human diseases of heterotopic bone formation
Fibrodysplasia ossificans progressiva
ACVR1
Hyperphosphatemic familial tumoral calcinosis
FGF23
GALNT3
KL
Progressive osseous heteroplasia
GNAS
Osteopetrosis
Autosomal dominant osteopetrosis 1
LRP5
Autosomal dominant osteopetrosis 2
CLCN7
Autosomal recessive osteopetrosis 4
CLCN7
Autosomal recessive osteopetrosis 7
TNFRSF11A
Combined renal tubular acidosis 3 with osteopetrosis 3
CA2
Osteoporosis/renal Osteodystrophy
CASR
LRP5
RXRA
VDR
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
STX16
Osteoarthritis susceptibility 5

References:

1.

None () Rickets.

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2.

None (2004) Inherited ossifying diseases.

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3.

Pereira Filho VA et al. () Osteopetrosis of the jaws.

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4.

Teli M et al. (2004) Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means.

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5.

Bielesz B et al. (2004) Renal phosphate loss in hereditary and acquired disorders of bone mineralization.

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6.

Bastepe M et al. (2005) GNAS locus and pseudohypoparathyroidism.

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7.

Bess RS et al. (2005) Spinal exostoses: analysis of twelve cases and review of the literature.

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8.

None (2004) Craniosynostosis syndromes in the genomic era.

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9.

Stieber JR et al. () Manifestations of hereditary multiple exostoses.

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10.

None (2002) Isthmic spondylolisthesis.

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11.

Hammoud S et al. (2005) Tumoral calcinosis in infants: a report of three cases and review of the literature.

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12.

Harb E et al. (2005) Pfeiffer syndrome: systemic and ocular implications.

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13.

Matzaroglou C et al. () A "reverse" Maffucci's syndrome: case report and short review of the literature.

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14.

None (2005) Renal phosphate--wasting disorders in childhood.

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15.

van der Linden-van der Zwaag H et al. (2006) Massive osteolysis (Gorham's disease) affecting the femur.

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16.

Nield LS et al. (2006) Rickets: not a disease of the past.

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17.

Wikipedia article

Wikipedia EN (Metabolic_bone_disease) [^]
Update: April 29, 2019