Details of Disease | DrugMAP

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.