TIDAND
MCID: TCL016
MIFTS: 34

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

Categories: Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin 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 57 12 25 74 13 15
T-Cell Immunodeficiency, Congenital Alopecia and Nail Dystrophy 53 29 6 40 72
Winged Helix Deficiency 12 53 25 59 74
Alymphoid Cystic Thymic Dysgenesis 12 53 25 59
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome 12 53 59
Pignata Guarino Syndrome 53 25 74
Congenital Alopecia and Nail Dystrophy Associated with Severe Functional T-Cell Immunodeficiency 53 25
Foxn1 Deficiency 53 59
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy 74
T-Cell Immunodeficiency Congenital Alopecia and Nail Dystrophy 37
Tidand 74

Characteristics:

Orphanet epidemiological data:

59
alymphoid cystic thymic dysgenesis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060769
OMIM 57 601705
KEGG 37 H01181
ICD10 33 D82.8
ICD10 via Orphanet 34 D82.8
Orphanet 59 ORPHA169095
MedGen 42 C1866426
UMLS 72 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. T-cell immunodeficiency, congenital alopecia, and nail dystrophy also affects growth of the hair and nails. Congenital alopecia refers to an absence of hair that is apparent from birth. Affected individuals have no scalp hair, eyebrows, or eyelashes. Nail dystrophy is a general term that describes malformed fingernails and toenails; in this condition, the nails are often ridged, pitted, or abnormally curved. Researchers have described abnormalities of the brain and spinal cord (central nervous system) in at least two cases of this condition. However, it is not yet known whether central nervous system abnormalities are a common feature of T-cell immunodeficiency, congenital alopecia, and nail dystrophy.

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 immune deficiency disease and alopecia, congenital. An important gene associated with T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy is FOXN1 (Forkhead Box N1). Affiliated tissues include t cells, brain and skin, 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.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 169095DefinitionA 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.

KEGG : 37
T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) is a severe combined immunodeficiency (SCID) syndrome caused by a mutation in FOXN1 gene encoding the forkhead/winged helix (WHN) FOXN1 transcription factor selectively expressed in thymic epithelia and skin. SCIDs are disorders of both cell-mediated and humoral immunity, characterized by high susceptibility to develop severe and sometimes fatal infections. TIDAND is the only human SCID caused by an intrinsic abnormality of the epithelial component of the thymus. The disease is always associated with a profound T-cell defect.

UniProtKB/Swiss-Prot : 74 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.

More information 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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 10.3
2 alopecia, congenital 10.3
3 autosomal recessive disease 10.3
4 alopecia 10.3
5 severe combined immunodeficiency 10.3
6 combined t cell and b cell immunodeficiency 10.2
7 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
8 alopecia universalis congenita 10.0
9 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
10 nail disorder, nonsyndromic congenital, 10 10.0
11 respiratory failure 10.0
12 hypothyroidism 10.0
13 urticaria 10.0
14 alopecia totalis 10.0

Graphical network of the top 20 diseases related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:



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

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

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

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
2 decrease in t cell count 59 32 hallmark (90%) Very frequent (99-80%) HP:0005403
3 nail pits 59 32 hallmark (90%) Very frequent (99-80%) HP:0001803
4 ridged nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001807
5 congenital alopecia totalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005597
6 nail dystrophy 32 HP:0008404
7 alopecia 32 HP:0001596
8 decreased proportion circulating t-helper cells 32 HP:0008165
9 severe t-cell immunodeficiency 32 HP:0005352

Symptoms via clinical synopsis from OMIM:

57
Immunol:
severe t-cell immunodeficiency

Nails:
ridging and pitting of all nails

Hair:
congenital alopecia

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 29 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:

41
T Cells, Brain, Skin, Spinal Cord, Thymus

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

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

# Title Authors PMID Year
1
FOXN1 mutation abrogates prenatal T-cell development in humans. 8 71
21507891 2011
2
FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. 8 71
18339010 2008
3
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. 8 71
15180707 2004
4
Exposing the human nude phenotype. 8 71
10206641 1999
5
Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. 8 71
8911612 1996
6
New member of the winged-helix protein family disrupted in mouse and rat nude mutations. 8
7969402 1994
7
'Nude', a new hairless gene with pleiotropic effects in the mouse. 8
5980117 1966
8
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches. 38
28932937 2017
9
FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis. 38
28636882 2017

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 94)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FOXN1 NM_003593.2(FOXN1): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs104894562 17:26856175-26856175 17:28529157-28529157
2 FOXN1 NM_003593.2(FOXN1): c.1445_1449delinsCCA (p.Arg482fs) indel Pathogenic 17:26862034-26862038 17:28535016-28535020
3 FOXN1 NM_003593.2(FOXN1): c.728_729dup (p.Pro244fs) duplication Pathogenic 17:26856138-26856139 17:28529122-28529123
4 FOXN1 NM_003593.2(FOXN1): c.1420C> T (p.Gln474Ter) single nucleotide variant Pathogenic 17:26862009-26862009 17:28534991-28534991
5 FOXN1 NM_003593.2(FOXN1): c.1086dup (p.Trp363fs) duplication Pathogenic 17:26861507-26861507 17:28534489-28534489
6 FOXN1 NM_003593.2(FOXN1): c.699+1G> T single nucleotide variant Likely pathogenic rs1555609768 17:26854380-26854380 17:28527362-28527362
7 FOXN1 NM_003593.2(FOXN1): c.546C> T (p.Asn182=) single nucleotide variant Conflicting interpretations of pathogenicity rs62640040 17:26851943-26851943 17:28524925-28524925
8 FOXN1 NM_003593.2(FOXN1): c.1201_1216del (p.Pro401fs) deletion Conflicting interpretations of pathogenicity rs1064793129 17:26861790-26861805 17:28534772-28534787
9 FOXN1 NM_003593.2(FOXN1): c.79C> T (p.Leu27Phe) single nucleotide variant Uncertain significance rs779728088 17:26851066-26851066 17:28524048-28524048
10 FOXN1 NM_003593.2(FOXN1): c.1289C> T (p.Pro430Leu) single nucleotide variant Uncertain significance rs149982141 17:26861878-26861878 17:28534860-28534860
11 FOXN1 NM_003593.2(FOXN1): c.226G> A (p.Glu76Lys) single nucleotide variant Uncertain significance rs142248984 17:26851623-26851623 17:28524605-28524605
12 FOXN1 NM_003593.2(FOXN1): c.1135+3G> A single nucleotide variant Uncertain significance rs755005215 17:26861559-26861559 17:28534541-28534541
13 FOXN1 NM_003593.2(FOXN1): c.1216G> A (p.Gly406Ser) single nucleotide variant Uncertain significance rs772140783 17:26861805-26861805 17:28534787-28534787
14 FOXN1 NM_003593.2(FOXN1): c.1549G> T (p.Asp517Tyr) single nucleotide variant Uncertain significance rs200053524 17:26862138-26862138 17:28535120-28535120
15 FOXN1 NM_003593.2(FOXN1): c.*154G> A single nucleotide variant Uncertain significance rs188710272 17:26864608-26864608 17:28537590-28537590
16 FOXN1 NM_003593.2(FOXN1): c.*300C> T single nucleotide variant Uncertain significance rs569202493 17:26864754-26864754 17:28537736-28537736
17 FOXN1 NM_003593.2(FOXN1): c.709G> A (p.Gly237Ser) single nucleotide variant Uncertain significance rs745321270 17:26856121-26856121 17:28529103-28529103
18 FOXN1 NM_003593.2(FOXN1): c.279C> G (p.Leu93=) single nucleotide variant Uncertain significance rs374082998 17:26851676-26851676 17:28524658-28524658
19 FOXN1 NM_003593.2(FOXN1): c.589-12C> A single nucleotide variant Uncertain significance rs185748978 17:26854257-26854257 17:28527239-28527239
20 FOXN1 NM_003593.2(FOXN1): c.1184C> T (p.Pro395Leu) single nucleotide variant Uncertain significance rs199739943 17:26861773-26861773 17:28534755-28534755
21 FOXN1 NM_003593.2(FOXN1): c.*206G> A single nucleotide variant Uncertain significance rs774039480 17:26864660-26864660 17:28537642-28537642
22 FOXN1 NM_003593.2(FOXN1): c.*496C> T single nucleotide variant Uncertain significance rs886052761 17:26864950-26864950 17:28537932-28537932
23 FOXN1 NM_003593.2(FOXN1): c.159C> T (p.Ser53=) single nucleotide variant Uncertain significance rs368024968 17:26851556-26851556 17:28524538-28524538
24 FOXN1 NM_003593.2(FOXN1): c.1444C> T (p.Arg482Trp) single nucleotide variant Uncertain significance rs1278753857 17:26862033-26862033 17:28535015-28535015
25 FOXN1 NM_003593.2(FOXN1): c.787G> A (p.Asp263Asn) single nucleotide variant Uncertain significance rs754796282 17:26856199-26856199 17:28529181-28529181
26 FOXN1 NM_003593.2(FOXN1): c.62G> A (p.Gly21Asp) single nucleotide variant Uncertain significance rs1362649393 17:26851049-26851049 17:28524031-28524031
27 FOXN1 NM_003593.2(FOXN1): c.1697C> T (p.Pro566Leu) single nucleotide variant Uncertain significance rs12603884 17:26864204-26864204 17:28537186-28537186
28 FOXN1 NM_003593.2(FOXN1): c.1618G> A (p.Asp540Asn) single nucleotide variant Uncertain significance rs181483148 17:26862207-26862207 17:28535189-28535189
29 FOXN1 NM_003593.2(FOXN1): c.832A> G (p.Ile278Val) single nucleotide variant Uncertain significance 17:26857768-26857768 17:28530750-28530750
30 FOXN1 NM_003593.2(FOXN1): c.880G> C (p.Val294Leu) single nucleotide variant Uncertain significance 17:26857816-26857816 17:28530798-28530798
31 FOXN1 NM_003593.2(FOXN1): c.950A> C (p.Asn317Thr) single nucleotide variant Uncertain significance 17:26861371-26861371 17:28534353-28534353
32 FOXN1 NM_003593.2(FOXN1): c.961C> A (p.His321Asn) single nucleotide variant Uncertain significance 17:26861382-26861382 17:28534364-28534364
33 FOXN1 NM_003593.2(FOXN1): c.970T> A (p.Ser324Thr) single nucleotide variant Uncertain significance 17:26861391-26861391 17:28534373-28534373
34 FOXN1 NM_003593.2(FOXN1): c.974T> C (p.Leu325Pro) single nucleotide variant Uncertain significance 17:26861395-26861395 17:28534377-28534377
35 FOXN1 NM_003593.2(FOXN1): c.1050G> A (p.Pro350=) single nucleotide variant Uncertain significance 17:26861471-26861471 17:28534453-28534453
36 FOXN1 NM_003593.2(FOXN1): c.194C> A (p.Pro65Gln) single nucleotide variant Uncertain significance 17:26851591-26851591 17:28524573-28524573
37 FOXN1 NM_003593.2(FOXN1): c.1381G> A (p.Gly461Ser) single nucleotide variant Uncertain significance 17:26861970-26861970 17:28534952-28534952
38 FOXN1 NM_003593.2(FOXN1): c.254G> A (p.Gly85Asp) single nucleotide variant Uncertain significance 17:26851651-26851651 17:28524633-28524633
39 FOXN1 NM_003593.2(FOXN1): c.724C> T (p.Pro242Ser) single nucleotide variant Uncertain significance 17:26856136-26856136 17:28529118-28529118
40 FOXN1 NM_003593.2(FOXN1): c.382C> T (p.Arg128Trp) single nucleotide variant Uncertain significance 17:26851779-26851779 17:28524761-28524761
41 FOXN1 NM_003593.2(FOXN1): c.1585del (p.Leu529fs) deletion Uncertain significance 17:26862173-26862173 17:28535156-28535156
42 FOXN1 NM_003593.2(FOXN1): c.41C> T (p.Pro14Leu) single nucleotide variant Uncertain significance 17:26851028-26851028 17:28524010-28524010
43 FOXN1 NM_003593.2(FOXN1): c.82A> G (p.Met28Val) single nucleotide variant Uncertain significance 17:26851069-26851069 17:28524051-28524051
44 FOXN1 NM_003593.2(FOXN1): c.160G> A (p.Asp54Asn) single nucleotide variant Uncertain significance 17:26851557-26851557 17:28524539-28524539
45 FOXN1 NM_003593.2(FOXN1): c.376T> C (p.Tyr126His) single nucleotide variant Uncertain significance 17:26851773-26851773 17:28524755-28524755
46 FOXN1 NM_003593.2(FOXN1): c.704C> T (p.Ser235Leu) single nucleotide variant Uncertain significance 17:26856116-26856116 17:28529098-28529098
47 FOXN1 NM_003593.2(FOXN1): c.*280C> G single nucleotide variant Uncertain significance rs532847274 17:26864734-26864734 17:28537716-28537716
48 FOXN1 NM_003593.2(FOXN1): c.*318A> G single nucleotide variant Uncertain significance rs886052759 17:26864772-26864772 17:28537754-28537754
49 FOXN1 NM_003593.2(FOXN1): c.*461C> T single nucleotide variant Uncertain significance rs886052760 17:26864915-26864915 17:28537897-28537897
50 FOXN1 NM_003593.2(FOXN1): c.*622C> G single nucleotide variant Uncertain significance rs886052763 17:26865076-26865076 17:28538058-28538058

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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