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Chondrodysplasia of Blomstrand type

Chondrodysplasia of Blomstrand type is a severe autosomal recessiv disorder caused by inactivating mutations of the PTHR1 gene. Patients die soon after birth and exhibit severe skeletal abnormalities.

Systematic

Bone dysplasia
Achondroplasia
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Cherubism
Chondrodysplasia of Blomstrand type
PTH1R
Chondrodysplasia, Grebe type
Crouzon syndrome
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
Osteofibrous dysplasia
Osteopathia striata with cranial sclerosis
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2

References:

1.

Blomstrand S et al. (1985) A case of lethal congenital dwarfism with accelerated skeletal maturation.

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2.

Loshkajian A et al. (1997) Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.

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3.

Jobert AS et al. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

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4.

Zhang P et al. (1998) A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.

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5.

Hoogendam J et al. (2007) Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.

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6.

Wysolmerski JJ et al. (2001) Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction.

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7.

Young ID et al. (1993) A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?

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8.

den Hollander NS et al. (1997) First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia.

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9.

Oostra RJ et al. (2000) Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity.

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10.

OMIM.ORG article

Omim 215045 external link
Update: Aug. 14, 2020
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