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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
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
IHH
Antley-Bixler syndrome 1
POR
Antley-Bixler syndrome 2
FGFR2
Apert syndrome
FGFR2
Cherubism
SH3BP2
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
Familial expansile osteolysis
TNFRSF11A
IVIC syndrome
SALL4
Juvenile Paget disease
TNFRSF11A
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
Familial tumoral calcinosis
Familial normophosphatemic tumoral calcinosis
SAMD9
Hyperphosphatemic familial tumoral calcinosis
FGF23
GALNT3
KL
Fibrodysplasia ossificans progressiva
ACVR1
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
GNAS-AS1
STX16
Osteoarthritis susceptibility 5
GDF5
Hereditary joint disease
Hereditary muscle diseases
Inborn skeletal malformations
Short stature

References:

1.

Mudd SH et al. (1970) Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.

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2.

Shih VE et al. (1970) Pyridoxine-unresponsive homocystinuria.

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3.

McCully KS et al. (1970) Production of arteriosclerosis by homocysteinemia.

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4.

Uhlendorf BW et al. (1968) Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria.

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5.

Carey MC et al. (1968) Homocystinuria. II. Subnormal serum folate levels, increased folate clearance and effects of folic acid therapy.

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6.

Carey MC et al. (1968) Homocystinuria. I. A clinical and pathological study of nine subjects in six families.

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7.

Wong PW et al. (1968) The biosynthesis of cystathionine in patients with homocystinuria.

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8.

None (1968) Activation of Hageman factor by L-homocystine.

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9.

Kaeser AC et al. (1969) Psychiatric and biochemical aspects of a case of homocystinuria.

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10.

Carson NA et al. (1969) Treatment of homocystinuria with pyridoxine. A preliminary study.

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11.

None (1969) Homocystinuria: vitamin B6 dependent or not?

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12.

None (1967) Dietary treatment of homocystinuria.

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13.

Spaeth GL et al. (1967) Prevalence of homocystinuria among the mentally retarded: evaluation of a specific screening test.

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14.

Tada K et al. (1967) Homocystinuria: amino acid pattern of the liver.

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15.

None (1982) The nature of the ocular zonule.

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16.

Munnich A et al. (1983) Diet-responsive proconvertin (factor VII) deficiency in homocystinuria.

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Update: Aug. 14, 2020
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