Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary bone disease

Hereditary bone disease includes both functional and morphological alterations of the bones.

Systematic

Hereditary musculoskeletal diseases
Hereditary bone disease
Acro-renal-ocular syndrome
SALL4
Albright hereditary osteodystrophy
GNAS
Bone dysplasia
Achondroplasia
FGFR3
Acrocapitofemoral dysplasia
IHH
Antley-Bixler syndrome 1
POR
Antley-Bixler syndrome 2
FGFR2
Apert syndrome
FGFR2
Chondrodysplasia of Blomstrand type
PTH1R
Chondrodysplasia, Grebe type
Acromesomelic dysplasia, Demirhan type
BMPR1B
Acromesomelic dysplasia, Grebe type
GDF5
Acromesomelic dysplasia, Hunter-Thompson type
GDF5
GDF5
Crouzon syndrome
FGFR3
Eiken syndrome
PTH1R
Failure of tooth eruption
PTH1R
McCune-Albright syndrom
GNAS
Metaphyseal chondrodysplasia of Murk Jansen type
PTH1R
Muenke syndrome
FGFR3
Osteofibrous dysplasia
MET
Osteopathia striata with cranial sclerosis
AMER1
Schimke Immunoosseous dysplasia
SMARCAL1
Thanatophoric dysplasia 1
FGFR3
Thanatophoric dysplasia 2
FGFR3
Ehlers-Danlos syndrome due to tenascin-X deficiency
TNXB
IVIC syndrome
SALL4
Kabuki syndrome
KDM6A
Kabuki syndrome 1
KMT2D
Kabuki syndrome 2
KDM6A
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
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
GDF5
Hereditary muscle diseases
Inborn skeletal malformations
Short stature

References:

1.

Berg EE et al. () Rickets.

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2.

Job-Deslandre C et al. (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.

Aleck K et al. (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.

Ganju A et al. (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.

Ward LM et al. (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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Update: Sept. 26, 2018