Disease #02385 (TIDAND (T-cell immunodeficiency, congenital alopecia and nail dystrophy), OMIM:601705)

Official abbreviation TIDAND
Name T-cell immunodeficiency, congenital alopecia and nail dystrophy
OMIM ID 601705
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 4
Phenotype entries for this disease 5
Associated with 1 gene FOXN1
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

4 entries on 1 page. Showing entries 1 - 4.
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     
00150235 10206641-Fam PubMed: Adriana 2004, PubMed: Frank 1999, PubMed: Pignata 1996 extensive 7-generation family, 6 affecteds, 55 unaffected heterozygous carriers, 2 sisters from Frank1999 F - Italy south (Acerno) - - - - TIDAND born with complete absence scalp hair /eyebrows / eyelashes; dystrophic nails, no thymic shadow on X-ray; striking impairment T-cell function (1 sister died 12m, other sister received bone marrow transplant) FOXN1 FOXN1 1 6 Johan den Dunnen
00150236 20978268-Pam1Pat PubMed: Markert 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents (distant cousins) F yes Portugal - - - - thymus transplantation therapy TIDAND see paper, ..., born at term, nail dystrophy, no hair, infection FOXN1 FOXN1 1 1 Johan den Dunnen
00150237 20978268-Pam2Pat PubMed: Markert 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - French;African - - - - TIDAND see paper; ..., born at term, no hair, dystrophic nails, respiratory distress FOXN1 FOXN1 1 1 Johan den Dunnen
00150238 25173801-Pat PubMed: Chou 2014 - F yes Lebanon - - - - - TIDAND see paper; ..., diffuse, eczematous rash progressed in 2w to erythroderma, severe diarrhea, congenital alopecia, T cell immunodeficiency FOXN1 FOXN1 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.