Details of Disease

General Information of Disease (ID: DISVSUWV)

Disease Name Chondrodysplasia Blomstrand type
Synonyms
Blomstrand lethal osteochondrodysplasia; Blomstrand's lethal chondrodysplasia; Blomstrand chondrodysplasia; Blomstrand osteochondrodysplasia; Blomstrand type chondrodysplasia; Blomstrand lethal chondrodysplasia; chondrodysplasia, Blomstrand type; BLC; BOCD
Definition Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
Disease Hierarchy
DISU0N46: Neonatal osteosclerotic dysplasia
DISVSUWV: Chondrodysplasia Blomstrand type
Disease Identifiers
MONDO ID
MONDO_0008970
MESH ID
C537914
UMLS CUI
C1859148
OMIM ID
215045
MedGen ID
395189
Orphanet ID
50945

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PTH1R TTFPD47 Limited Altered Expression [1]
PTH1R TTFPD47 Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTH1R OTQF5ZAK Definitive Autosomal recessive [2]
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References

1 Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.J Clin Endocrinol Metab. 2007 Mar;92(3):1088-95. doi: 10.1210/jc.2006-0300. Epub 2006 Dec 12.
2 Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet. 2005 Jan 1;14(1):1-5. doi: 10.1093/hmg/ddi001. Epub 2004 Nov 3.