Disease #01786 (HFS (fibromatosis, hyaline syndrome (HFS)), OMIM:228600)

Official abbreviation HFS
Name fibromatosis, hyaline syndrome (HFS)
OMIM ID 228600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 10
Phenotype entries for this disease 10
Associated with 1 gene ANTXR2
Associated tissues -
Disease features autosomal recessive
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

10 entries on 1 page. Showing entries 1 - 10.
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     
00081012 - PubMed: Trujillano 2017 no information from parents - - - - - - - - HFS Hyaline fibromatosis syndrome (OMIM:228600) ANTXR2 ANTXR2 1 1 Daniel Trujillano
00207306 21328543-Fam1PatII1 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Switzerland - - - - - HFS painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, no intractable recurrent diarrhoea, no systemic inflammatory reaction, no recurrent infections ANTXR2 ANTXR2 2 1 Shixu Yan
00207307 12973667-FamISH2 PMID:Dowling 2003:12973667} 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Switzerland - - - - - HFS see paper; ... ANTXR2 ANTXR2 2 2 Shixu Yan
00207308 21328543-Fam2PatII2 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Switzerland - - - - - HFS painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, no intractable recurrent diarrhoea, no systemic inflammatory reaction, no recurrent infections ANTXR2 ANTXR2 2 1 Shixu Yan
00207309 14508707-FamL PubMed: Hanks 2003 2-generation family, 2 affected, unaffected heterozygous carrier parents - - Switzerland - - - - - HFS see paper; ... ANTXR2 ANTXR2 2 2 Shixu Yan
00207310 21328543-Fam4PatII2 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Swaziland - - - - - HFS painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, intractable recurrent diarrhoea, no systemic inflammatory reaction, no recurrent infections ANTXR2 ANTXR2 1 1 Shixu Yan
00207312 21328543-Fam3PatII2 PubMed: Deuquet 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Switzerland - - - - - HFS painful contractions in infancy, skin eruptions, gingival hypertrophy, failure to thrive, short stature, intractable recurrent diarrhoea, systemic inflammatory reaction, recurrent infections ANTXR2 ANTXR2 1 1 Johan den Dunnen
00207313 12973667-FamJHF2 PubMed: Dowling 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United States African American - - - - HFS see paper; ... ANTXR2 ANTXR2 1 1 Johan den Dunnen
00207314 12973667-FamISH1 PubMed: Dowling 2003 - F yes Turkey - - - - - HFS see paper; ... ANTXR2 ANTXR2 1 1 Johan den Dunnen
00207315 12973667-FamJHF1 PubMed: Dowling 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - HFS see paper; ... ANTXR2 ANTXR2 1 1 Johan den Dunnen
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.