Disease #01219 (CAFYD (Caffey disease (CAFYD)), OMIM:114000)

Official abbreviation CAFYD
Name Caffey disease (CAFYD)
OMIM ID 114000
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 21
Phenotype entries for this disease -
Associated with 1 gene COL1A1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

21 entries on 1 page. Showing entries 1 - 21.
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     
00322262 - PubMed: Gensure et al., 2005 - - - - - - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322263 - PubMed: Suphapeetiporn et al., 2007 - - - - - - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322264 - PubMed: Gensure et al., 2005 - - - - - - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322265 - PubMed: Gensure et al., 2005 - - - - - - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322266 - PubMed: Kamoun-Goldrat et al., 2008 - - - - - - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322267 - PubMed: Cho et al., 2008 - - - - Korean - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322268 - PubMed: Cho et al., 2008 The patient's sister (Patient 3) also harbours the same mutation. - - - Korean - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322269 - PubMed: Cho et al., 2008 - - - - Korean - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322270 - PubMed: Cho et al., 2008 - - - - Korean - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322271 - PubMed: Cho et al., 2008 - - - - Korean - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322272 - - - - - - - - - - - CAFYD - COL1A1 COL1A1 1 1 Peter Roughley
00322273 - - - - - - - - - - - CAFYD - COL1A1 COL1A1 1 1 Isabel Mandy Nesbitt
00322274 - - - - - - white - - - - CAFYD - COL1A1 COL1A1 1 1 Javier Garcia-Planells
00322275 - PubMed: Ranganath et al., 2011 The proband's mother has been shown not to carry the variant but no sample could be obtained from the father. - - - Indian - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322276 - PubMed: Cerruti-Mainardi et al., 2011 There is variability of symptoms within the family which is presented. - - - Italian - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322278 - - - - - - - - - - - CAFYD - COL1A1 COL1A1 1 1 Margherita Maioli
00322279 - PubMed: Navarre et al., 2013 - - - - - - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322280 - PubMed: Prior et al., 2012 The proband's mother and uncle also harbour the same variant and are affected by Caffey disease. - - - - - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322281 - PubMed: Kitaoka et al., 2014 The proband's mother, sister and brother all harbour the Caffey-disease sequence variant but the mother and sister have no disease symptoms. - - - Japanese - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322282 - PubMed: Spranger and Lausch, 2016 The variant was discovered in affected sisters and also in their mother who had no symptoms. - - - - - - - - CAFYD - COL1A1 COL1A1 1 1 Raymond Dalgleish
00322813 - PubMed: Symoens et al., 2014 Since the mother also harbours the variant without having the Caffey-like phenotype, it can be deduced that this variant alone does not cause the phenotype. - - - - - - - - CAFYD - COL1A1 COL1A1 1 1 Sofie Symoens
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.