MCID: TCL016
MIFTS: 23

T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

MalaCards integrated aliases for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

Name: T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 54 12 25 71 13 14
Winged Helix Deficiency 12 25 56 71
T-Cell Immunodeficiency, Congenital Alopecia and Nail Dystrophy 50 29 69
Alymphoid Cystic Thymic Dysgenesis 12 25 56
Pignata Guarino Syndrome 50 25 71
Congenital Alopecia and Nail Dystrophy Associated with Severe Functional T-Cell Immunodeficiency 50 25
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome 12 56
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy 71
Tidand 71

Characteristics:

Orphanet epidemiological data:

56
alymphoid cystic thymic dysgenesis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
t-cell immunodeficiency, congenital alopecia, and nail dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 601705
Disease Ontology 12 DOID:0060769
ICD10 33 D82.8
Orphanet 56 ORPHA169095
ICD10 via Orphanet 34 D82.8
MedGen 40 C1866426

Summaries for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Genetics Home Reference : 25 T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood.

MalaCards based summary : T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy, is also known as winged helix deficiency, and has symptoms including immunodeficiency, nail pits and ridged nail. An important gene associated with T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy is FOXN1 (Forkhead Box N1). Affiliated tissues include t cells.

Disease Ontology : 12 A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.

UniProtKB/Swiss-Prot : 71 T-cell immunodeficiency, congenital alopecia, and nail dystrophy: A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails.

Description from OMIM: 601705

Related Diseases for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Symptoms & Phenotypes for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Symptoms via clinical synopsis from OMIM:

54

Hair:
congenital alopecia

Nails:
ridging and pitting of all nails

Immunol:
severe t-cell immunodeficiency

Lab:
decreased mature t lymphocytes
decreased helper t cells
normal number of suppressor/cytotoxic t cells
decreased proliferative response to mitogen stimulation
normal proliferative response to phorbol myristate acetate and ionomycin


Clinical features from OMIM:

601705

Human phenotypes related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

56 32 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0002721
2 nail pits 56 32 hallmark (90%) Very frequent (99-80%) HP:0001803
3 ridged nail 56 32 hallmark (90%) Very frequent (99-80%) HP:0001807
4 congenital alopecia totalis 56 32 hallmark (90%) Very frequent (99-80%) HP:0005597
5 alopecia 32 HP:0001596
6 nail dystrophy 32 HP:0008404
7 severe t-cell immunodeficiency 32 HP:0005352
8 t lymphocytopenia 56 Very frequent (99-80%)
9 decrease in t cell count 32 hallmark (90%) HP:0005403
10 reduced circulating t-helper cells 32 HP:0008165

Drugs & Therapeutics for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Search Clinical Trials , NIH Clinical Center for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Genetic Tests for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Genetic tests related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

id Genetic test Affiliating Genes
1 T-Cell Immunodeficiency, Congenital Alopecia and Nail Dystrophy 29

Anatomical Context for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

MalaCards organs/tissues related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

39
T Cells

Publications for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Variations for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

ClinVar genetic disease variations for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FOXN1 NM_003593.2(FOXN1): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs104894562 GRCh37 Chromosome 17, 26856175: 26856175
2 FOXN1 NM_003593.2(FOXN1): c.1195_1225del31 (p.Cys399Profs) deletion Likely pathogenic rs886043619 GRCh37 Chromosome 17, 26861784: 26861814

Expression for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Search GEO for disease gene expression data for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy.

Pathways for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

GO Terms for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

Sources for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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