Disease #05398 (CLCRP (Cole-Carpenter syndrome (CLCRP)))

Official abbreviation CLCRP
Name Cole-Carpenter syndrome (CLCRP)
OMIM ID -
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 2 genes P4HB, SEC24D
Associated tissues -
Disease features -
Remarks -
Date created 2018-02-23 14:44:55 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00154403 29263160-Pat PubMed: Balasubramanian 2018 2-generation family, 1 affected, unaffected non-carrier mother F no United Kingdom (Great Britain) white - - - - CLCRP see paper; ... P4HB P4HB 1 1 Johan den Dunnen
00154404 25683117-Pat1 PubMed: Rauch 2015, PubMed: Cole 1987 2-generation family, 1 affected, unaffected parents M no Canada - - - - - CLCRP see papers; ..., craniosynostosis, Wormian bones, communicating hydrocephalus, midface hypoplasia, ocular proptosis, cognitive function normal, sclera white, dentinogenesis imperfecta, normsl hearing, normal vision, 1m-first fracture, final height 120 cm, lumbar spine areal BMD before pamidronate treatment z-score -3.9, lumbar spine areal BMD after pamidronate z-score -2.4, long-bone deformities, scoliosis, vertebral compression fractures, wheelchair bound, normal serum biochemistry (calcium, inorganic phosphorus, alkaline phosphatase, parathyroid hormone) P4HB P4HB, SERPINH1 2 1 Johan den Dunnen
00154405 25683117-Pat2 PubMed: Rauch 2015, PubMed: Cole 1987 2-generation family, 1 affected, unaffected non-carrier parents M no Canada - - - - - CLCRP see papers; ..., craniosynostosis, no Wormian bones, communicating hydrocephalus, midface hypoplasia, ocular proptosis, cognitive function normal, sclera white, normal teeth, normal hearing, normal vision, 2m-first fracture, final height 97 cm, lumbar spine areal BMD before pamidronate treatment z-score -5.0, lumbar spine areal BMD after pamidronate z-score -4.2, long-bone deformities, scoliosis, vertebral compression fractures, wheelchair bound, normal serum biochemistry (calcium, inorganic phosphorus, alkaline phosphatase, parathyroid hormone) P4HB P4HB 1 1 Johan den Dunnen
00154406 25604815- PubMed: Balasubramanian 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents (first cousin) F - United Kingdom (Great Britain) Pakistan - - - - CLCRP see paper; ... CRTAP CRTAP 1 1 Johan den Dunnen
00372771 - PubMed: Ouyang and Yang, 2017 - - - China - - - - - CLCRP - P4HB P4HB 1 1 Raymond Dalgleish
00372773 - PubMed: Porntaveetus 2018 - - - Thailand - - - - - CLCRP - P4HB P4HB 1 1 Raymond Dalgleish
00372775 - PubMed: Garbes 2015 - - - - - - - - - CLCRP - SEC24D SEC24D 2 1 Raymond Dalgleish
00372778 - PubMed: Garbes 2015 There were two affected fetuses in this family and a healthy sister heterozygous for the c.2933A>C variant. - - - - - - - - CLCRP - SEC24D SEC24D 2 1 Raymond Dalgleish
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.