TIDAND
MCID: TCL016
MIFTS: 44

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 43 72 29 13 6 15
Winged Helix Deficiency 12 20 43 58 72
Alymphoid Cystic Thymic Dysgenesis 12 20 43 58
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome 12 20 58
T-Cell Immunodeficiency, Congenital Alopecia and Nail Dystrophy 20 39 70
Pignata Guarino Syndrome 20 43 72
Congenital Alopecia and Nail Dystrophy Associated with Severe Functional T-Cell Immunodeficiency 20 43
Severe Combined Immunodeficiency Due to Foxn1 Deficiency 20 58
Tidand 57 72
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy 72
T-Cell Immunodeficiency Congenital Alopecia and Nail Dystrophy 36
Nude/severe Combined Immunodeficiency 58
Scid Due to Foxn1 Deficiency 58
Foxn1 Deficiency 20
Nude/scid 58

Characteristics:

Orphanet epidemiological data:

58
severe combined immunodeficiency due to foxn1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
t-cell immunodeficiency, congenital alopecia, and nail dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060769
OMIM® 57 601705
KEGG 36 H01181
ICD10 32 D82.8
ICD10 via Orphanet 33 D82.8
Orphanet 58 ORPHA169095
MedGen 41 C1866426
UMLS 70 C1866426

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

MedlinePlus Genetics : 43 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 winged helix deficiency, 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), and among its related pathways/superpathways is Keratinization. Affiliated tissues include t cells, thymus and spinal cord, and related phenotypes are immunodeficiency and ridged nail

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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 169095 Definition 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.

OMIM® : 57 T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND) is an autosomal recessive primary immunodeficiency characterized by congenital thymic aplasia and severe T-cell immunodeficiency apparent at birth or soon thereafter. Affected individuals tend to have recurrent infections, oral candidiasis, and failure to thrive. Immunologic investigations show decreased numbers of T cells with poor proliferative response to phytohemagglutinin (PHA) and variable hypogammaglobulinemia. The phenotype is consistent with a T-/B+/NK+ form of severe combined immunodeficiency (SCID; see, e.g., 102700). Patients with FOXN1 mutations do not respond well to hematopoietic stem cell transplantation, as it is not curative; thymic transplantation offers a potential cure (Chou et al., 2014). (601705) (Updated 20-May-2021)

KEGG : 36 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 : 72 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.

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 49)
# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 10.4
2 alopecia, congenital 10.4
3 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 10.4
4 autosomal recessive disease 10.4
5 alopecia 10.4
6 severe combined immunodeficiency 10.1
7 neural tube defects 10.1
8 anencephaly 10.1
9 lymphoma 10.0
10 oral candidiasis 10.0
11 rhinitis 10.0
12 b-cell lymphoma 10.0
13 t-cell immunodeficiency with thymic aplasia 10.0 KRT71 FOXN1
14 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.0 FOXN1 ALX4
15 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9
16 alopecia universalis congenita 9.9
17 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
18 combined immunodeficiency 9.9
19 respiratory failure 9.9
20 hypothyroidism 9.9
21 urticaria 9.9
22 alopecia totalis 9.9
23 digeorge syndrome 9.9
24 omenn syndrome 9.9
25 in situ carcinoma 9.9
26 bowen's disease 9.9
27 naxos disease 9.9 LPAR6 DSG4
28 ectodermal dysplasia 6, hair/nail type 9.8 HOXC13 FOXN1 DSG4
29 ectodermal dysplasia 5, hair/nail type 9.8 HOXC13 FOXN1 DSG4
30 ectodermal dysplasia 9, hair/nail type 9.7 HOXC13 FOXN1 DSG4
31 ectodermal dysplasia 7, hair/nail type 9.7 HOXC13 FOXN1 DSG4
32 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 9.7 LIPH CDH15
33 woolly hair, autosomal dominant 9.7 LPAR6 LIPH KRT71
34 hypotrichosis 3 9.7 LPAR6 LIPH KRT71
35 hypotrichosis 7 9.6 LPAR6 LIPH DSG4
36 hypotrichosis 2 9.5 LIPH CDSN
37 hypotrichosis 4 9.5 LPAR6 LIPH HOXC13
38 hypotrichosis 13 9.5 LPAR6 LIPH KRT71 DSG4
39 hypotrichosis 6 9.5 LPAR6 LIPH KRT71 DSG4
40 atrichia with papular lesions 9.4 LPAR6 LIPH DSG4 CDSN
41 hypotrichosis simplex 9.4 LPAR6 LIPH DSG4 CDSN
42 hypotrichosis, congenital, with juvenile macular dystrophy 9.3 LIPH DSG4 CDSN CDH15
43 familial woolly hair syndrome 9.2 LPAR6 LIPH KRT71 DSG4 CDSN
44 hypotrichosis 11 9.2 LPAR6 LIPH DSG4 CDSN CDH15
45 hypotrichosis 8 9.1 LPAR6 LIPH DSG4 CDSN CDH15
46 ectodermal dysplasia 4, hair/nail type 9.0 LPAR6 LIPH KRT71 HOXC13 FOXN1 DSG4
47 hypotrichosis 8.9 LPAR6 LIPH KRT71 HOXC13 DSG4 CDSN
48 monilethrix 8.9 LPAR6 LIPH KRT71 HOXC13 DSG4 CDSN
49 hair disease 8.7 LPAR6 LIPH KRT71 HOXC13 FOXN1 DSG4

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:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
2 ridged nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001807
3 nail pits 58 31 hallmark (90%) Very frequent (99-80%) HP:0001803
4 congenital alopecia totalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005597
5 t lymphocytopenia 31 hallmark (90%) HP:0005403
6 alopecia 31 HP:0001596
7 nail dystrophy 31 HP:0008404
8 decrease in t cell count 58 Very frequent (99-80%)
9 decreased helper t cell proportion 31 HP:0008165
10 severe t-cell immunodeficiency 31 HP:0005352

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 9.4 DSG4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.4 HOXC13
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.4 DSG4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.4 DSG4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.4 HOXC13
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 9.4 HOXC13
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.4 DSG4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.4 DSG4
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.4 HOXC13
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.4 HOXC13
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.4 HOXC13
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.4 HOXC13

MGI Mouse Phenotypes related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.1 ALX4 DSG4 FOXN1 HOXC13 KRT71 LIPH

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:

40
T Cells, Thymus, Spinal Cord, Brain

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

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

(show all 16)
# Title Authors PMID Year
1
FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis. 61 57 6
28636882 2017
2
A novel mutation in FOXN1 resulting in SCID: a case report and literature review. 57 6
25173801 2014
3
FOXN1 mutation abrogates prenatal T-cell development in humans. 57 6
21507891 2011
4
First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases. 6 57
20978268 2011
5
FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. 57 6
18339010 2008
6
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. 6 57
15180707 2004
7
Exposing the human nude phenotype. 57 6
10206641 1999
8
Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. 57 6
8911612 1996
9
FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. 6
31566583 2019
10
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis. 6
31447097 2019
11
Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation. 6
20864124 2010
12
Nail dystrophy associated with a heterozygous mutation of the nude/SCID human FOXN1 (WHN) gene. 6
15897400 2005
13
New member of the winged-helix protein family disrupted in mouse and rat nude mutations. 57
7969402 1994
14
'Nude', a new hairless gene with pleiotropic effects in the mouse. 57
5980117 1966
15
Development of the Nude Rabbit Model. 61
33606990 2021
16
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches. 61
28932937 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 205)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXN1 NM_001369369.1(FOXN1):c.1086dup (p.Trp363fs) Duplication Pathogenic 639621 rs1597566699 GRCh37: 17:26861502-26861503
GRCh38: 17:28534484-28534485
2 FOXN1 NM_001369369.1(FOXN1):c.1420C>T (p.Gln474Ter) SNV Pathogenic 660886 rs1438890364 GRCh37: 17:26862009-26862009
GRCh38: 17:28534991-28534991
3 FOXN1 NM_001369369.1(FOXN1):c.728_729dup (p.Pro244fs) Duplication Pathogenic 663245 rs1597558200 GRCh37: 17:26856138-26856139
GRCh38: 17:28529120-28529121
4 FOXN1 NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter) SNV Pathogenic 8757 rs104894562 GRCh37: 17:26856175-26856175
GRCh38: 17:28529157-28529157
5 FOXN1 NM_001369369.1(FOXN1):c.1376C>A (p.Ser459Ter) SNV Pathogenic 837219 GRCh37: 17:26861965-26861965
GRCh38: 17:28534947-28534947
6 FOXN1 NM_001369369.1(FOXN1):c.490del (p.Asp164fs) Deletion Pathogenic 839513 GRCh37: 17:26851886-26851886
GRCh38: 17:28524868-28524868
7 FOXN1 NM_001369369.1(FOXN1):c.189del (p.Pro65fs) Deletion Pathogenic 854460 GRCh37: 17:26851586-26851586
GRCh38: 17:28524568-28524568
8 FOXN1 NM_001369369.1(FOXN1):c.1445_1449delinsCCA (p.Arg482fs) Indel Pathogenic 576959 rs1567887558 GRCh37: 17:26862034-26862038
GRCh38: 17:28535016-28535020
9 FOXN1 NM_001369369.1(FOXN1):c.1366_1369dup (p.His457fs) Duplication Pathogenic 862162 GRCh37: 17:26861953-26861954
GRCh38: 17:28534935-28534936
10 FOXN1 NM_001369369.1(FOXN1):c.933_936dup (p.Asp313fs) Duplication Pathogenic 827574 rs1597566356 GRCh37: 17:26861352-26861353
GRCh38: 17:28534334-28534335
11 FOXN1 NM_001369369.1(FOXN1):c.1089_1103del (p.Trp363_Pro368delinsCys) Deletion Pathogenic 827575 rs1597566726 GRCh37: 17:26861510-26861524
GRCh38: 17:28534492-28534506
12 FOXN1 NM_001369369.1(FOXN1):c.562del (p.Ser188fs) Deletion Pathogenic 827573 rs1597552140 GRCh37: 17:26851959-26851959
GRCh38: 17:28524941-28524941
13 FOXN1 NM_001369369.1(FOXN1):c.1465del (p.Gln489fs) Deletion Likely pathogenic 869415 GRCh37: 17:26862049-26862049
GRCh38: 17:28535031-28535031
14 FOXN1 NM_001369369.1(FOXN1):c.699+1G>T SNV Likely pathogenic 536427 rs1555609768 GRCh37: 17:26854380-26854380
GRCh38: 17:28527362-28527362
15 FOXN1 NM_001369369.1(FOXN1):c.1201_1216del (p.Pro401fs) Deletion Likely pathogenic 418218 rs1064793129 GRCh37: 17:26861777-26861792
GRCh38: 17:28534759-28534774
16 FOXN1 NM_001369369.1(FOXN1):c.321C>T (p.Ala107=) SNV Conflicting interpretations of pathogenicity 468552 rs138295148 GRCh37: 17:26851718-26851718
GRCh38: 17:28524700-28524700
17 FOXN1 NM_001369369.1(FOXN1):c.1886C>T (p.Thr629Met) SNV Conflicting interpretations of pathogenicity 728480 rs368962978 GRCh37: 17:26864393-26864393
GRCh38: 17:28537375-28537375
18 FOXN1 NM_001369369.1(FOXN1):c.987C>T (p.Phe329=) SNV Conflicting interpretations of pathogenicity 753290 rs184956155 GRCh37: 17:26861408-26861408
GRCh38: 17:28534390-28534390
19 FOXN1 NM_001369369.1(FOXN1):c.550C>A (p.Leu184Ile) SNV Conflicting interpretations of pathogenicity 322420 rs202144980 GRCh37: 17:26851947-26851947
GRCh38: 17:28524929-28524929
20 FOXN1 NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val) SNV Conflicting interpretations of pathogenicity 322417 rs367793349 GRCh37: 17:26851894-26851894
GRCh38: 17:28524876-28524876
21 FOXN1 NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu) SNV Conflicting interpretations of pathogenicity 322428 rs199739943 GRCh37: 17:26861773-26861773
GRCh38: 17:28534755-28534755
22 FOXN1 NM_001369369.1(FOXN1):c.546C>T (p.Asn182=) SNV Conflicting interpretations of pathogenicity 322419 rs62640040 GRCh37: 17:26851943-26851943
GRCh38: 17:28524925-28524925
23 FOXN1 NM_001369369.1(FOXN1):c.1131G>A (p.Lys377=) SNV Conflicting interpretations of pathogenicity 769913 rs139218809 GRCh37: 17:26861552-26861552
GRCh38: 17:28534534-28534534
24 FOXN1 NM_001369369.1(FOXN1):c.1492C>T (p.Pro498Ser) SNV Uncertain significance 862778 GRCh37: 17:26862081-26862081
GRCh38: 17:28535063-28535063
25 FOXN1 NM_001369369.1(FOXN1):c.554C>T (p.Pro185Leu) SNV Uncertain significance 863051 GRCh37: 17:26851951-26851951
GRCh38: 17:28524933-28524933
26 FOXN1 NM_001369369.1(FOXN1):c.141C>A (p.Ser47Arg) SNV Uncertain significance 863372 GRCh37: 17:26851538-26851538
GRCh38: 17:28524520-28524520
27 FOXN1 NM_001369369.1(FOXN1):c.1783G>A (p.Gly595Ser) SNV Uncertain significance 864005 GRCh37: 17:26864290-26864290
GRCh38: 17:28537272-28537272
28 FOXN1 NM_001369369.1(FOXN1):c.-14-28A>G SNV Uncertain significance 888804 GRCh37: 17:26850946-26850946
GRCh38: 17:28523928-28523928
29 FOXN1 NM_001369369.1(FOXN1):c.42G>A (p.Pro14=) SNV Uncertain significance 888805 GRCh37: 17:26851029-26851029
GRCh38: 17:28524011-28524011
30 FOXN1 NM_001369369.1(FOXN1):c.64G>A (p.Glu22Lys) SNV Uncertain significance 888806 GRCh37: 17:26851051-26851051
GRCh38: 17:28524033-28524033
31 FOXN1 NM_001369369.1(FOXN1):c.123+10C>T SNV Uncertain significance 888807 GRCh37: 17:26851120-26851120
GRCh38: 17:28524102-28524102
32 FOXN1 NM_001369369.1(FOXN1):c.1327C>T (p.Leu443Phe) SNV Uncertain significance 834588 GRCh37: 17:26861916-26861916
GRCh38: 17:28534898-28534898
33 FOXN1 NM_001369369.1(FOXN1):c.124-14C>T SNV Uncertain significance 888808 GRCh37: 17:26851507-26851507
GRCh38: 17:28524489-28524489
34 FOXN1 NM_001369369.1(FOXN1):c.147G>A (p.Ser49=) SNV Uncertain significance 888809 GRCh37: 17:26851544-26851544
GRCh38: 17:28524526-28524526
35 FOXN1 NM_001369369.1(FOXN1):c.1554C>T (p.Thr518=) SNV Uncertain significance 888886 GRCh37: 17:26862143-26862143
GRCh38: 17:28535125-28535125
36 FOXN1 NM_001369369.1(FOXN1):c.1651G>T (p.Asp551Tyr) SNV Uncertain significance 888887 GRCh37: 17:26864158-26864158
GRCh38: 17:28537140-28537140
37 FOXN1 NM_001369369.1(FOXN1):c.1727C>T (p.Pro576Leu) SNV Uncertain significance 888888 GRCh37: 17:26864234-26864234
GRCh38: 17:28537216-28537216
38 FOXN1 NM_001369369.1(FOXN1):c.373C>A (p.Pro125Thr) SNV Uncertain significance 890508 GRCh37: 17:26851770-26851770
GRCh38: 17:28524752-28524752
39 FOXN1 NM_001369369.1(FOXN1):c.1752G>A (p.Gly584=) SNV Uncertain significance 890585 GRCh37: 17:26864259-26864259
GRCh38: 17:28537241-28537241
40 FOXN1 NM_001369369.1(FOXN1):c.1815C>T (p.Ser605=) SNV Uncertain significance 890586 GRCh37: 17:26864322-26864322
GRCh38: 17:28537304-28537304
41 FOXN1 NM_001369369.1(FOXN1):c.1921A>G (p.Ser641Gly) SNV Uncertain significance 890587 GRCh37: 17:26864428-26864428
GRCh38: 17:28537410-28537410
42 FOXN1 NM_001369369.1(FOXN1):c.611C>T (p.Pro204Leu) SNV Uncertain significance 322422 rs886052757 GRCh37: 17:26854291-26854291
GRCh38: 17:28527273-28527273
43 FOXN1 NM_001369369.1(FOXN1):c.*154G>A SNV Uncertain significance 322439 rs188710272 GRCh37: 17:26864608-26864608
GRCh38: 17:28537590-28537590
44 FOXN1 NM_001369369.1(FOXN1):c.*280C>G SNV Uncertain significance 322442 rs532847274 GRCh37: 17:26864734-26864734
GRCh38: 17:28537716-28537716
45 FOXN1 NM_001369369.1(FOXN1):c.*318A>G SNV Uncertain significance 322444 rs886052759 GRCh37: 17:26864772-26864772
GRCh38: 17:28537754-28537754
46 FOXN1 NM_001369369.1(FOXN1):c.*496C>T SNV Uncertain significance 322447 rs886052761 GRCh37: 17:26864950-26864950
GRCh38: 17:28537932-28537932
47 FOXN1 NM_001369369.1(FOXN1):c.589-12C>A SNV Uncertain significance 322421 rs185748978 GRCh37: 17:26854257-26854257
GRCh38: 17:28527239-28527239
48 FOXN1 NM_001369369.1(FOXN1):c.159C>T (p.Ser53=) SNV Uncertain significance 322413 rs368024968 GRCh37: 17:26851556-26851556
GRCh38: 17:28524538-28524538
49 FOXN1 NM_001369369.1(FOXN1):c.709G>A (p.Gly237Ser) SNV Uncertain significance 322423 rs745321270 GRCh37: 17:26856121-26856121
GRCh38: 17:28529103-28529103
50 FOXN1 NM_001369369.1(FOXN1):c.1135+3G>A SNV Uncertain significance 322426 rs755005215 GRCh37: 17:26861559-26861559
GRCh38: 17:28534541-28534541

UniProtKB/Swiss-Prot genetic disease variations for T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy:

72
# Symbol AA change Variation ID SNP ID
1 FOXN1 p.Arg320Trp VAR_083860 rs128897795

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

Pathways related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 KRT71 DSG4 CDSN

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

Cellular components related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.96 DSG4 CDSN
2 desmosome GO:0030057 8.62 DSG4 CDSN

Biological processes related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion GO:0098609 9.5 DSG4 CDSN CDH15
2 cornification GO:0070268 9.43 KRT71 DSG4 CDSN
3 nail development GO:0035878 9.16 HOXC13 FOXN1
4 keratinocyte differentiation GO:0030216 9.13 FOXN1 DSG4 CDSN
5 hair follicle development GO:0001942 8.92 HOXC13 FOXN1 DSG4 ALX4

Molecular functions related to T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.8 HOXC13 FOXN1 ALX4

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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