Disease #02385

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

4 entries on 1 page. Showing entries 1 - 4.
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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) - 0 - - T-cell immunodeficiency, congenital alopecia and nail dystrophy 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 - - 0 - thymus transplantation therapy T-cell immunodeficiency, congenital alopecia and nail dystrophy 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 - 0 - - T-cell immunodeficiency, congenital alopecia and nail dystrophy 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 - - 0 - - T-cell immunodeficiency, congenital alopecia and nail dystrophy see paper; ..., diffuse, eczematous rash progressed in 2w to erythroderma, severe diarrhea, congenital alopecia, T cell immunodeficiency FOXN1 FOXN1 1 1 Johan den Dunnen
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