BOCD
MCID: CHN054
MIFTS: 45
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Chondrodysplasia, Blomstrand Type (BOCD)
Categories:
Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Chondrodysplasia, Blomstrand Type:
Characteristics:Orphanet epidemiological data:59
blomstrand lethal chondrodysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
die at birth or shortly after birth caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, HPO:32
chondrodysplasia, blomstrand type:
Clinical modifier stillbirth Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Bone diseases Endocrine diseases
ICD10:
34
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 50945DefinitionBlomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.EpidemiologyTo date, less than 10 cases have been described in the literature.Clinical descriptionBLC is a congenital disorder characterized by a low birth weight, facial dysmorphism (widely spaced and protruding eyes (which typically show cataract), depressed nasal bridge, short columella, long philtrum, macroglossia, protruding tongue, severe micrognathia), short trunk, narrow thorax and severe rhizo-meso-acromelic shortness of the limbs. Other anomalies also observed include tooth and mammary gland development defects, hypoplastic lungs, aorta coarctation (see this term), and bowel malrotation. Two forms of BCL, have been described: type I which is the severe, classical form and type II which has less severe features (such as absence of short trunk or, severely shortened arms but moderately shortened legs).EtiologyBLC is caused by inactivating homozygous or compound heterozygous mutations in PTH1R (3p22-p21.1) which encodes the parathyroid hormone (PTH)/parathyroid-hormone-related peptide (PTHrP) receptor (PTH1R). These mutations result in the decrease in binding or response to PTH and PTHrP.Diagnostic methodsDiagnosis is based on the clinical and radiological characteristics which show generalized increase in bone density with advanced ossification, severe shortness of the long bones with wide metaphyses and club-shaped distal ends, long narrow thorax, calcified hyoid bone and laryngeal cartilage and underdeveloped viscerocranium. Histopathological examination shows an important acceleration of the endochondral ossification in tubular bones, narrow cartilages of the epiphyses and large epiphyseal ossification centers. Diagnosis is confirmed by the genetic screening of PTH1R.Differential diagnosisDifferential diagnosis includes primary failure of tooth eruption (see this term) and other lethal short limbed dwarfisms.Antenatal diagnosisPrenatal diagnosis is achieved by sonographic examination showing polyhydramnios, hydrops fetalis (see this term) and a fetus with very short limbs, nuchale dema, macroglossia, a protuberant abdomen, internal anomalies and markedly advanced endochondral bone formation.Genetic counselingTransmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% chance of having an affected child.PrognosisBoth forms of BLC are lethal either prenatally or shortly after birth.Visit the Orphanet disease page for more resources.
MalaCards based summary : Chondrodysplasia, Blomstrand Type, also known as chondrodysplasia blomstrand type, is related to pseudo-torch syndrome 1 and bladder cancer. An important gene associated with Chondrodysplasia, Blomstrand Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Presynaptic function of Kainate receptors and G alpha (s) signalling events. Affiliated tissues include bone, tongue and eye, and related phenotypes are malar flattening and low-set ears Disease Ontology : 12 An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has material basis in autosomal recessive inheritance of mutation in the PTH1R gene. OMIM : 57 Blomstrand chondrodysplasia is an autosomal recessive disorder characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation (summary by Loshkajian et al., 1997). (215045) UniProtKB/Swiss-Prot : 74 Chondrodysplasia Blomstrand type: Severe skeletal dysplasia. |
Human phenotypes related to Chondrodysplasia, Blomstrand Type:59 32 (show all 44)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:215045GenomeRNAi Phenotypes related to Chondrodysplasia, Blomstrand Type according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Chondrodysplasia, Blomstrand Type:46
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Cochrane evidence based reviews: chondrodysplasia, blomstrand type |
MalaCards organs/tissues related to Chondrodysplasia, Blomstrand Type:41
Bone,
Tongue,
Eye,
Lung,
Breast,
Neutrophil
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Articles related to Chondrodysplasia, Blomstrand Type:(show all 16)
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ClinVar genetic disease variations for Chondrodysplasia, Blomstrand Type:6
UniProtKB/Swiss-Prot genetic disease variations for Chondrodysplasia, Blomstrand Type:74
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Pathways related to Chondrodysplasia, Blomstrand Type according to GeneCards Suite gene sharing:
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Biological processes related to Chondrodysplasia, Blomstrand Type according to GeneCards Suite gene sharing:
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