About: Cranio-lenticulo-sutural dysplasia

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Cranio-lenticulo-sutural dysplasia Goto Sponge NotDistinct Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)
QRcode icon

http://dbpedia.demo.openlinksw.com/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FCranio-lenticulo-sutural_dysplasia&invfp=IFP_OFF&sas=SAME_AS_OFF

Cranio-lenticulo-sutural dysplasia (CLSD, or Boyadjiev–Jabs syndrome) is a neonatal/infancy disease caused by a disorder in the 14th chromosome. It is an autosomal recessive disorder, meaning that both recessive genes must be inherited from each parent in order for the disease to manifest itself. The disease causes a significant dilation of the endoplasmic reticulum in fibroblasts of the host with CLSD. Due to the distension of the endoplasmic reticulum, export of proteins (such as collagen) from the cell is disrupted.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	Cranio-lenticulo-sutural dysplasia (en)
rdfs:comment	Cranio-lenticulo-sutural dysplasia (CLSD, or Boyadjiev–Jabs syndrome) is a neonatal/infancy disease caused by a disorder in the 14th chromosome. It is an autosomal recessive disorder, meaning that both recessive genes must be inherited from each parent in order for the disease to manifest itself. The disease causes a significant dilation of the endoplasmic reticulum in fibroblasts of the host with CLSD. Due to the distension of the endoplasmic reticulum, export of proteins (such as collagen) from the cell is disrupted. (en)
foaf:name	Cranio-lenticulo-sutural dysplasia (en)
name	Cranio-lenticulo-sutural dysplasia (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Rare diseases Syndromes
Wikipage page ID	29814293 (xsd:integer)
Wikipage revision ID	1118577138 (xsd:integer)
Link from a Wikipage to another Wikipage	Cataracts Scoliosis Endoplasmic reticulum Mineralization (biology) Mutation Bedouin DNA Vesicle (biology and chemistry) Dysplasia SAR1A Genetic code Genetics Embryos Recessive genes Autosomal recessive disorders Leucine Zebrafish Autosomal recessive COPII Cell (biology) Transcription (biology) Translated SEC23A Amino acid Flat feet Ossification Capillary hemangioma Chromosome Chromosome 14 Golgi apparatus Prognosis RNA Rare diseases Guanosine triphosphate Hyperpigmentation Hypertelorism Fibroblasts Syndromes Symptoms Collagen Womb Missense mutation Phenotype Phenylalanine Animal embryonic development Cartilage Extracellular matrix Ribosome Scapulocoracoid Palate Saudi Arabian SNARE Fontanels Neonatal
sameAs	Cranio-lenticulo-sutural dysplasia Cranio-lenticulo-sutural dysplasia Cranio-lenticulo-sutural dysplasia
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Cn dbt:Col-2 dbt:Col-begin dbt:Col-end dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Inherited_disorders_of_trafficking
thumbnail	wiki-commons:Special:FilePath/Protein_SEC23A_PDB_2nup.png?width=300
ICD	Q75.8 (en)
MeshID	564332.0 (nicaraguanCórdoba)
OMIM	607812 (xsd:integer)
Orphanet	50814 (xsd:integer)
caption	Protein SEC23A involved in CLSD (en)
synonyms	Boyadjiev–Jabs syndrome (en)
has abstract	Cranio-lenticulo-sutural dysplasia (CLSD, or Boyadjiev–Jabs syndrome) is a neonatal/infancy disease caused by a disorder in the 14th chromosome. It is an autosomal recessive disorder, meaning that both recessive genes must be inherited from each parent in order for the disease to manifest itself. The disease causes a significant dilation of the endoplasmic reticulum in fibroblasts of the host with CLSD. Due to the distension of the endoplasmic reticulum, export of proteins (such as collagen) from the cell is disrupted. The production of SEC23A protein is involved in the pathway of exporting collagen (the COPII pathway), but a missense mutation causes and underproduction of SEC23A which inhibits the pathway, affecting collagen secretion. This decrease in collagen secretion can lead to the bone defects that are also characteristic of the disease, such as skeletal dysplasia and under-ossification. Decreased collagen in CLSD-affected individuals contributes to improper bone formation, because collagen is a major protein in the extracellular matrix and contributes to its proper mineralization in bones. It has also been hypothesized that there are other defects in the genetic code besides SEC23A that contribute to the disorder. (en)
MeSH ID	C564332
prov:wasDerivedFrom	wikipedia-en:Cranio-lenticulo-sutural_dysplasia?oldid=1118577138&ns=0
page length (characters) of wiki page	11163 (xsd:nonNegativeInteger)
ICD10	Q75.8
OMIM id	607812 (xsd:integer)
ORPHA	50814
foaf:isPrimaryTopicOf	wikipedia-en:Cranio-lenticulo-sutural_dysplasia
is Link from a Wikipage to another Wikipage of	Boyadjiev-Jabs syndrome List of genetic disorders Vesicular transport adaptor protein Mediated transport

Faceted Search & Find service v1.17_git139 as of Feb 29 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3330 as of Mar 19 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (378 GB total memory, 59 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software