TIDAND
MCID: TCL016
MIFTS: 25

T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy (TIDAND)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare 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 58 12 26 76 13 15
T-Cell Immunodeficiency, Congenital Alopecia and Nail Dystrophy 54 30 6 41 74
Winged Helix Deficiency 12 54 26 60 76
Alymphoid Cystic Thymic Dysgenesis 12 54 26 60
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome 12 54 60
Pignata Guarino Syndrome 54 26 76
Congenital Alopecia and Nail Dystrophy Associated with Severe Functional T-Cell Immunodeficiency 54 26
Foxn1 Deficiency 54 60
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy 76
T-Cell Immunodeficiency Congenital Alopecia and Nail Dystrophy 38
Tidand 76

Characteristics:

Orphanet epidemiological data:

60
alymphoid cystic thymic dysgenesis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
t-cell immunodeficiency, congenital alopecia, and nail dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060769
OMIM 58 601705
KEGG 38 H01181
ICD10 34 D82.8
ICD10 via Orphanet 35 D82.8
Orphanet 60 ORPHA169095
MedGen 43 C1866426
UMLS 74 C1866426

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

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 169095Disease definitionAlymphoid cystic thymic dysgenesis is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.Visit the Orphanet disease page for more resources.

MalaCards based summary : T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy, also known as t-cell immunodeficiency, congenital alopecia and nail dystrophy, is related to alopecia, congenital and alopecia. An important gene associated with T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy is FOXN1 (Forkhead Box N1). Affiliated tissues include t cells, and related phenotypes are immunodeficiency and decrease in t cell count

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.

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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

Diseases related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alopecia, congenital 10.3
2 alopecia 10.3
3 severe combined immunodeficiency 10.0
4 combined t cell and b cell immunodeficiency 10.0

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

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

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
2 decrease in t cell count 60 33 hallmark (90%) Very frequent (99-80%) HP:0005403
3 nail pits 60 33 hallmark (90%) Very frequent (99-80%) HP:0001803
4 ridged nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001807
5 congenital alopecia totalis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005597
6 nail dystrophy 33 HP:0008404
7 alopecia 33 HP:0001596
8 severe t-cell immunodeficiency 33 HP:0005352
9 decreased proportion circulating t-helper cells 33 HP:0008165

Symptoms via clinical synopsis from OMIM:

58
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

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:

# Genetic test Affiliating Genes
1 T-Cell Immunodeficiency, Congenital Alopecia and Nail Dystrophy 30 FOXN1

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

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

42
T Cells

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

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

# Title Authors Year
1
Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. ( 8911612 )
1996

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

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

6 (show top 50) (show all 130)
# 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.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs104894562 GRCh38 Chromosome 17, 28529157: 28529157
3 FOXN1 NM_003593.2(FOXN1): c.205C> T (p.Arg69Cys) single nucleotide variant Benign rs2071587 GRCh37 Chromosome 17, 26851602: 26851602
4 FOXN1 NM_003593.2(FOXN1): c.205C> T (p.Arg69Cys) single nucleotide variant Benign rs2071587 GRCh38 Chromosome 17, 28524584: 28524584
5 FOXN1 NM_003593.2(FOXN1): c.279C> G (p.Leu93=) single nucleotide variant Uncertain significance rs374082998 GRCh37 Chromosome 17, 26851676: 26851676
6 FOXN1 NM_003593.2(FOXN1): c.279C> G (p.Leu93=) single nucleotide variant Uncertain significance rs374082998 GRCh38 Chromosome 17, 28524658: 28524658
7 FOXN1 NM_003593.2(FOXN1): c.589-12C> A single nucleotide variant Uncertain significance rs185748978 GRCh38 Chromosome 17, 28527239: 28527239
8 FOXN1 NM_003593.2(FOXN1): c.589-12C> A single nucleotide variant Uncertain significance rs185748978 GRCh37 Chromosome 17, 26854257: 26854257
9 FOXN1 NM_003593.2(FOXN1): c.1184C> T (p.Pro395Leu) single nucleotide variant Uncertain significance rs199739943 GRCh38 Chromosome 17, 28534755: 28534755
10 FOXN1 NM_003593.2(FOXN1): c.1184C> T (p.Pro395Leu) single nucleotide variant Uncertain significance rs199739943 GRCh37 Chromosome 17, 26861773: 26861773
11 FOXN1 NM_003593.2(FOXN1): c.*206G> A single nucleotide variant Uncertain significance rs774039480 GRCh38 Chromosome 17, 28537642: 28537642
12 FOXN1 NM_003593.2(FOXN1): c.*206G> A single nucleotide variant Uncertain significance rs774039480 GRCh37 Chromosome 17, 26864660: 26864660
13 FOXN1 NM_003593.2(FOXN1): c.*496C> T single nucleotide variant Uncertain significance rs886052761 GRCh38 Chromosome 17, 28537932: 28537932
14 FOXN1 NM_003593.2(FOXN1): c.*496C> T single nucleotide variant Uncertain significance rs886052761 GRCh37 Chromosome 17, 26864950: 26864950
15 FOXN1 NM_003593.2(FOXN1): c.159C> T (p.Ser53=) single nucleotide variant Uncertain significance rs368024968 GRCh37 Chromosome 17, 26851556: 26851556
16 FOXN1 NM_003593.2(FOXN1): c.159C> T (p.Ser53=) single nucleotide variant Uncertain significance rs368024968 GRCh38 Chromosome 17, 28524538: 28524538
17 FOXN1 NM_003593.2(FOXN1): c.546C> T (p.Asn182=) single nucleotide variant Conflicting interpretations of pathogenicity rs62640040 GRCh38 Chromosome 17, 28524925: 28524925
18 FOXN1 NM_003593.2(FOXN1): c.546C> T (p.Asn182=) single nucleotide variant Conflicting interpretations of pathogenicity rs62640040 GRCh37 Chromosome 17, 26851943: 26851943
19 FOXN1 NM_003593.2(FOXN1): c.709G> A (p.Gly237Ser) single nucleotide variant Uncertain significance rs745321270 GRCh38 Chromosome 17, 28529103: 28529103
20 FOXN1 NM_003593.2(FOXN1): c.709G> A (p.Gly237Ser) single nucleotide variant Uncertain significance rs745321270 GRCh37 Chromosome 17, 26856121: 26856121
21 FOXN1 NM_003593.2(FOXN1): c.714T> C (p.Gly238=) single nucleotide variant Benign/Likely benign rs35240903 GRCh38 Chromosome 17, 28529108: 28529108
22 FOXN1 NM_003593.2(FOXN1): c.714T> C (p.Gly238=) single nucleotide variant Benign/Likely benign rs35240903 GRCh37 Chromosome 17, 26856126: 26856126
23 FOXN1 NM_003593.2(FOXN1): c.1135+8C> T single nucleotide variant Benign rs2286521 GRCh38 Chromosome 17, 28534546: 28534546
24 FOXN1 NM_003593.2(FOXN1): c.1135+8C> T single nucleotide variant Benign rs2286521 GRCh37 Chromosome 17, 26861564: 26861564
25 FOXN1 NM_003593.2(FOXN1): c.1657A> G (p.Ser553Gly) single nucleotide variant Uncertain significance rs137872361 GRCh38 Chromosome 17, 28537146: 28537146
26 FOXN1 NM_003593.2(FOXN1): c.1657A> G (p.Ser553Gly) single nucleotide variant Uncertain significance rs137872361 GRCh37 Chromosome 17, 26864164: 26864164
27 FOXN1 NM_003593.2(FOXN1): c.1795G> C (p.Ala599Pro) single nucleotide variant Benign rs532648 GRCh38 Chromosome 17, 28537284: 28537284
28 FOXN1 NM_003593.2(FOXN1): c.1795G> C (p.Ala599Pro) single nucleotide variant Benign rs532648 GRCh37 Chromosome 17, 26864302: 26864302
29 FOXN1 NM_003593.2(FOXN1): c.*254G> A single nucleotide variant Benign rs3744635 GRCh38 Chromosome 17, 28537690: 28537690
30 FOXN1 NM_003593.2(FOXN1): c.*254G> A single nucleotide variant Benign rs3744635 GRCh37 Chromosome 17, 26864708: 26864708
31 FOXN1 NM_003593.2(FOXN1): c.*280C> G single nucleotide variant Uncertain significance rs532847274 GRCh38 Chromosome 17, 28537716: 28537716
32 FOXN1 NM_003593.2(FOXN1): c.*280C> G single nucleotide variant Uncertain significance rs532847274 GRCh37 Chromosome 17, 26864734: 26864734
33 FOXN1 NM_003593.2(FOXN1): c.*318A> G single nucleotide variant Uncertain significance rs886052759 GRCh38 Chromosome 17, 28537754: 28537754
34 FOXN1 NM_003593.2(FOXN1): c.*318A> G single nucleotide variant Uncertain significance rs886052759 GRCh37 Chromosome 17, 26864772: 26864772
35 FOXN1 NM_003593.2(FOXN1): c.*461C> T single nucleotide variant Uncertain significance rs886052760 GRCh38 Chromosome 17, 28537897: 28537897
36 FOXN1 NM_003593.2(FOXN1): c.*461C> T single nucleotide variant Uncertain significance rs886052760 GRCh37 Chromosome 17, 26864915: 26864915
37 FOXN1 NM_003593.2(FOXN1): c.*622C> G single nucleotide variant Uncertain significance rs886052763 GRCh38 Chromosome 17, 28538058: 28538058
38 FOXN1 NM_003593.2(FOXN1): c.*622C> G single nucleotide variant Uncertain significance rs886052763 GRCh37 Chromosome 17, 26865076: 26865076
39 FOXN1 NM_003593.2(FOXN1): c.497C> T (p.Ala166Val) single nucleotide variant Uncertain significance rs367793349 GRCh38 Chromosome 17, 28524876: 28524876
40 FOXN1 NM_003593.2(FOXN1): c.497C> T (p.Ala166Val) single nucleotide variant Uncertain significance rs367793349 GRCh37 Chromosome 17, 26851894: 26851894
41 FOXN1 NM_003593.2(FOXN1): c.539G> C (p.Trp180Ser) single nucleotide variant Uncertain significance rs765090704 GRCh38 Chromosome 17, 28524918: 28524918
42 FOXN1 NM_003593.2(FOXN1): c.539G> C (p.Trp180Ser) single nucleotide variant Uncertain significance rs765090704 GRCh37 Chromosome 17, 26851936: 26851936
43 FOXN1 NM_003593.2(FOXN1): c.611C> T (p.Pro204Leu) single nucleotide variant Uncertain significance rs886052757 GRCh38 Chromosome 17, 28527273: 28527273
44 FOXN1 NM_003593.2(FOXN1): c.611C> T (p.Pro204Leu) single nucleotide variant Uncertain significance rs886052757 GRCh37 Chromosome 17, 26854291: 26854291
45 FOXN1 NM_003593.2(FOXN1): c.1443G> T (p.Leu481=) single nucleotide variant Uncertain significance rs548817079 GRCh38 Chromosome 17, 28535014: 28535014
46 FOXN1 NM_003593.2(FOXN1): c.1443G> T (p.Leu481=) single nucleotide variant Uncertain significance rs548817079 GRCh37 Chromosome 17, 26862032: 26862032
47 FOXN1 NM_003593.2(FOXN1): c.1556T> A (p.Leu519Gln) single nucleotide variant Uncertain significance rs34814444 GRCh38 Chromosome 17, 28535127: 28535127
48 FOXN1 NM_003593.2(FOXN1): c.1556T> A (p.Leu519Gln) single nucleotide variant Uncertain significance rs34814444 GRCh37 Chromosome 17, 26862145: 26862145
49 FOXN1 NM_003593.2(FOXN1): c.1706C> A (p.Ser569Tyr) single nucleotide variant Uncertain significance rs149225004 GRCh38 Chromosome 17, 28537195: 28537195
50 FOXN1 NM_003593.2(FOXN1): c.1706C> A (p.Ser569Tyr) single nucleotide variant Uncertain significance rs149225004 GRCh37 Chromosome 17, 26864213: 26864213

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

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