TIDAND
MCID: TCL016
MIFTS: 48

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

Categories: Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
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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 11 42 73 28 12 5 14
Winged Helix Deficiency 11 19 42 58 73
Alymphoid Cystic Thymic Dysgenesis 11 19 42 58
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome 11 19 58
T-Cell Immunodeficiency, Congenital Alopecia and Nail Dystrophy 19 43 71
Pignata Guarino Syndrome 19 42 73
Congenital Alopecia and Nail Dystrophy Associated with Severe Functional T-Cell Immunodeficiency 19 42
Severe Combined Immunodeficiency Due to Foxn1 Deficiency 19 58
Tidand 57 73
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy 73
Nude/severe Combined Immunodeficiency 58
Scid Due to Foxn1 Deficiency 58
Foxn1 Deficiency 19
Nude/scid 58

Characteristics:


Inheritance:

T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy: Autosomal recessive 57
Severe Combined Immunodeficiency Due to Foxn1 Deficiency: Autosomal dominant,Autosomal recessive 58

Prevelance:

Severe Combined Immunodeficiency Due to Foxn1 Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Severe Combined Immunodeficiency Due to Foxn1 Deficiency: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
early death (in some patients)
onset at birth or early infancy
hematopoietic stem cell transplant is not curative
thymus transplant is curative


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 11 DOID:0060769
OMIM® 57 601705
ICD10 31 D82.8
ICD10 via Orphanet 32 D82.8
Orphanet 58 ORPHA169095
MedGen 40 C1866426
UMLS 71 C1866426

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

MedlinePlus Genetics: 42 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 t-cell immunodeficiency with thymic aplasia and immune deficiency disease. An important gene associated with T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy is FOXN1 (Forkhead Box N1), and among its related pathways/superpathways are Nervous system development and Keratinization. Affiliated tissues include t cells, thymus and spinal cord, and related phenotypes are immunodeficiency and nail pits

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 08-Dec-2022)

GARD: 19 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.

Orphanet: 58 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.

Disease Ontology: 11 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: 73 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 top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 t-cell immunodeficiency with thymic aplasia 29.8 KRT71 FOXN1
2 immune deficiency disease 10.4
3 alopecia, congenital 10.4
4 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 10.4
5 t cell deficiency 10.4
6 alopecia 10.4
7 hypothyroidism 10.1
8 severe combined immunodeficiency 10.1
9 neural tube defects 10.1
10 anencephaly 10.1
11 human cytomegalovirus infection 10.1
12 meningocele 10.1
13 burkitt lymphoma 10.0
14 lymphoma 10.0
15 oral candidiasis 10.0
16 b-cell lymphoma 10.0
17 nail disorder, nonsyndromic congenital, 1 9.9
18 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9
19 alopecia universalis congenita 9.9
20 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
21 combined immunodeficiency 9.9
22 respiratory failure 9.9
23 urticaria 9.9
24 alopecia totalis 9.9
25 digeorge syndrome 9.9
26 neural tube defects, folate-sensitive 9.9
27 omenn syndrome 9.9
28 chromosome 22q11.2 deletion syndrome, distal 9.9
29 bowen's disease 9.9
30 woolly hair, autosomal recessive 3 9.9 LPAR6 LIPH
31 diffuse alopecia areata 9.8 LIPH KRT86
32 ectodermal dysplasia 9, hair/nail type 9.8 HOXC13 FOXN1
33 woolly hair, autosomal dominant 9.8 LPAR6 LIPH KRT71
34 hypotrichosis 3 9.8 LPAR6 LIPH KRT71
35 ectodermal dysplasia 6, hair/nail type 9.8 HOXC13 FOXN1 DSG4
36 hypotrichosis simplex 9.8 LPAR6 LIPH DSG4
37 ectodermal dysplasia 5, hair/nail type 9.8 HOXC13 FOXN1 DSG4
38 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.7 KRT86 KRT71
39 ectodermal dysplasia 7, hair/nail type 9.7 HOXC13 FOXN1 DSG4
40 hypotrichosis 7 9.6 LPAR6 LIPH DSG4 CDSN
41 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 9.5 DSG4 CDSN CDH15
42 hypotrichosis 4 9.5 LPAR6 LIPH KRT71 HOXC13
43 hypotrichosis 13 9.4 LPAR6 LIPH KRT71 DSG4 CDSN
44 hypotrichosis 6 9.4 LPAR6 LIPH KRT86 KRT71 DSG4
45 atrichia with papular lesions 9.2 LPAR6 LIPH KRT86 FOXN1 DSG4 CDSN
46 hypotrichosis 11 9.2 LPAR6 LIPH DSG4 CDSN CDH15
47 hypotrichosis, congenital, with juvenile macular dystrophy 9.2 LPAR6 LIPH DSG4 CDSN CDH15
48 hypotrichosis 8 9.0 LPAR6 LIPH KRT71 DSG4 CDSN CDH15
49 ectodermal dysplasia 4, hair/nail type 8.9 LPAR6 LIPH KRT86 KRT71 HOXC13 FOXN1
50 hypotrichosis 8.9 LPAR6 LIPH KRT86 KRT71 HOXC13 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 30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002721
2 nail pits 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001803
3 ridged nail 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001807
4 congenital alopecia totalis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005597
5 t lymphocytopenia 30 Hallmark (90%) HP:0005403
6 alopecia 30 HP:0001596
7 nail dystrophy 30 HP:0008404
8 decrease in t cell count 58 Very frequent (99-80%)
9 severe t-cell immunodeficiency 30 HP:0005352
10 decreased helper t cell proportion 30 HP:0008165

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive
poor growth

Skin Nails Hair Hair:
alopecia

Skin Nails Hair Nails:
nail pitting
dystrophic nails

Head And Neck Mouth:
oral candidiasis

Immunology:
thymic aplasia, congenital
t-cell immunodeficiency
decreased naive t lymphocytes
decreased t4+ and t8+ t cells
decreased proliferative response to pha and cd3 antibody stimulation
more
Respiratory:
recurrent respiratory infections

Skin Nails Hair Skin:
erythroderma

Head And Neck Eyes:
no eyebrows
no eyelashes

Abdomen Gastrointestinal:
gastroenteritis

Clinical features from OMIM®:

601705 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.36 DSG4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.36 DSG4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.36 DSG4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.36 DSG4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-171 9.36 HOXC13
6 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.36 DSG4 HOXC13
7 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.36 DSG4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.36 DSG4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.36 HOXC13
10 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.36 HOXC13

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.17 CDSN DSG4 FOXN1 HOXC13 KRT71 KRT86

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

Cochrane evidence based reviews: 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 28 FOXN1

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

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

MalaCards : T Cells, Thymus, Spinal Cord, Brain, Bone Marrow, Skin, Bone

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

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

(show top 50) (show all 65)
# Title Authors PMID Year
1
FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis. 62 57 5
28636882 2017
2
FOXN1 mutation abrogates prenatal T-cell development in humans. 62 57 5
21507891 2011
3
First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases. 62 57 5
20978268 2011
4
FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. 62 57 5
18339010 2008
5
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. 62 57 5
15180707 2004
6
Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. 62 57 5
8911612 1996
7
A novel mutation in FOXN1 resulting in SCID: a case report and literature review. 57 5
25173801 2014
8
Exposing the human nude phenotype. 57 5
10206641 1999
9
FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. 62 5
31566583 2019
10
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis. 62 5
31447097 2019
11
Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation. 62 5
20864124 2010
12
Nail dystrophy associated with a heterozygous mutation of the nude/SCID human FOXN1 (WHN) gene. 62 5
15897400 2005
13
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
14
New member of the winged-helix protein family disrupted in mouse and rat nude mutations. 57
7969402 1994
15
'Nude', a new hairless gene with pleiotropic effects in the mouse. 57
5980117 1966
16
Spectrum of Genetic T-Cell Disorders from 22q11.2DS to CHARGE. 62
35133619 2022
17
Fatal and Unresponsive Cytomegalovirus Infection in a New Homozygous FOXN1 Gene Variation Causing Nude SCID. 62
35064468 2022
18
Correction to: Fatal and Unresponsive Cytomegalovirus Infection in a New Homozygous FOXN1 Gene Variation Causing Nude SCID. 62
35312028 2022
19
Experience with cultured thymus tissue in 105 children. 62
34362576 2022
20
Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment. 62
33987750 2021
21
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations. 62
33464451 2021
22
Development of the Nude Rabbit Model. 62
33606990 2021
23
Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects. 62
33815417 2021
24
Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models. 62
32431714 2020
25
T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features. 62
32922396 2020
26
Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency. 62
31151968 2019
27
A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency. 62
30903456 2019
28
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches. 62
28932937 2017
29
Genetically engineered bone marrow-derived mesenchymal stem cells co-expressing IFN-γ and IL-10 inhibit hepatocellular carcinoma by modulating MAPK pathway. 62
29332347 2017
30
Looking for the Most Suitable Orthotopic Retinoblastoma Mouse Model in Order to Characterize the Tumoral Development. 62
28622397 2017
31
Enhanced fucosylation of GA1 in the digestive tracts of X-ray-irradiated mice. 62
27858203 2017
32
Neotenic phenomenon in gene expression in the skin of Foxn1- deficient (nude) mice - a projection for regenerative skin wound healing. 62
28068897 2017
33
Extracellular vesicle-mediated suicide mRNA/protein delivery inhibits glioblastoma tumor growth in vivo. 62
27982017 2017
34
FOXN1 deficient nude severe combined immunodeficiency. 62
28077132 2017
35
Development of liposomes entrapped in alginate beads for the treatment of colorectal cancer. 62
26464131 2016
36
Ibrutinib enhances the antitumor immune response induced by intratumoral injection of a TLR9 ligand in mouse lymphoma. 62
25662332 2015
37
FOXN1 in organ development and human diseases. 62
24432845 2014
38
Tumorigenicity studies of induced pluripotent stem cell (iPSC)-derived retinal pigment epithelium (RPE) for the treatment of age-related macular degeneration. 62
24454843 2014
39
FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program. 62
23874334 2013
40
Cellular alterations and modulation of protein expression in bitumen-challenged human osteoblast cells. 62
22528993 2012
41
[Post-thymus transplant vitiligo in a child with Foxn1 deficiency]. 62
22721479 2012
42
Mesenchymal stem cells display hepato-protective activity in lymphoma bearing xenografts. 62
20827501 2012
43
Human FOXN1-deficiency is associated with αβ double-negative and FoxP3+ T-cell expansions that are distinctly modulated upon thymic transplantation. 62
22590644 2012
44
From murine to human nude/SCID: the thymus, T-cell development and the missing link. 62
22474479 2012
45
Tanshinone IIA inhibits human hepatocellular carcinoma J5 cell growth by increasing Bax and caspase 3 and decreasing CD31 expression in vivo. 62
22002472 2012
46
Human bone marrow mesenchymal stem cells display anti-cancer activity in SCID mice bearing disseminated non-Hodgkin's lymphoma xenografts. 62
20585401 2010
47
Sann-Joong-Kuey-Jian-Tang up-regulates the protein expression of Fas and TNF-α in colo 205 cells in vivo and in vitro. 62
21472201 2010
48
Efficacy of ST-246 versus lethal poxvirus challenge in immunodeficient mice. 62
20080762 2010
49
Acute cell-mediated rejection in orthotopic pig-to-mouse corneal xenotransplantation. 62
19392722 2009
50
Human clinical phenotype associated with FOXN1 mutations. 62
20429426 2009

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

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

5 (show top 50) (show all 360)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXN1 NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter) SNV Pathogenic
8757 rs104894562 GRCh37: 17:26856175-26856175
GRCh38: 17:28529157-28529157
2 FOXN1 NM_001369369.1(FOXN1):c.1086dup (p.Trp363fs) DUP Pathogenic
639621 rs1597566699 GRCh37: 17:26861502-26861503
GRCh38: 17:28534484-28534485
3 FOXN1 NM_001369369.1(FOXN1):c.1420C>T (p.Gln474Ter) SNV Pathogenic
660886 rs1438890364 GRCh37: 17:26862009-26862009
GRCh38: 17:28534991-28534991
4 FOXN1 NM_001369369.1(FOXN1):c.728_729dup (p.Pro244fs) DUP Pathogenic
663245 rs1597558200 GRCh37: 17:26856138-26856139
GRCh38: 17:28529120-28529121
5 FOXN1 NM_001369369.1(FOXN1):c.1376C>A (p.Ser459Ter) SNV Pathogenic
837219 rs745708044 GRCh37: 17:26861965-26861965
GRCh38: 17:28534947-28534947
6 FOXN1 NM_001369369.1(FOXN1):c.490del (p.Asp164fs) DEL Pathogenic
839513 rs2069729948 GRCh37: 17:26851886-26851886
GRCh38: 17:28524868-28524868
7 FOXN1 NM_001369369.1(FOXN1):c.189del (p.Pro65fs) DEL Pathogenic
854460 rs2069719445 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.562del (p.Ser188fs) DEL Pathogenic
827573 rs1597552140 GRCh37: 17:26851959-26851959
GRCh38: 17:28524941-28524941
10 FOXN1 NM_001369369.1(FOXN1):c.1366_1369dup (p.His457fs) DUP Pathogenic
862162 rs2070018439 GRCh37: 17:26861953-26861954
GRCh38: 17:28534935-28534936
11 FOXN1 NM_001369369.1(FOXN1):c.933_936dup (p.Asp313fs) DUP Pathogenic
827574 rs1597566356 GRCh37: 17:26861352-26861353
GRCh38: 17:28534334-28534335
12 FOXN1 NM_001369369.1(FOXN1):c.1089_1103del (p.Trp363_Pro368delinsCys) DEL Pathogenic
827575 rs1597566726 GRCh37: 17:26861510-26861524
GRCh38: 17:28534492-28534506
13 FOXN1 NM_001369369.1(FOXN1):c.455del (p.Pro152fs) DEL Pathogenic
1360931 GRCh37: 17:26851849-26851849
GRCh38: 17:28524831-28524831
14 FOXN1 NM_001369369.1(FOXN1):c.723C>G (p.Tyr241Ter) SNV Pathogenic
1070970 GRCh37: 17:26856135-26856135
GRCh38: 17:28529117-28529117
15 FOXN1 NM_001369369.1(FOXN1):c.1316del (p.Leu439fs) DEL Pathogenic
1074340 GRCh37: 17:26861905-26861905
GRCh38: 17:28534887-28534887
16 FOXN1 NM_001369369.1(FOXN1):c.823del (p.Ser275fs) DEL Pathogenic
1075865 GRCh37: 17:26856234-26856234
GRCh38: 17:28529216-28529216
17 FOXN1 NM_001369369.1(FOXN1):c.64G>T (p.Glu22Ter) SNV Pathogenic
1417126 GRCh37: 17:26851051-26851051
GRCh38: 17:28524033-28524033
18 FOXN1 NM_001369369.1(FOXN1):c.690dup (p.Phe231fs) DUP Pathogenic
1454677 GRCh37: 17:26854364-26854365
GRCh38: 17:28527346-28527347
19 FOXN1 NM_001369369.1(FOXN1):c.1010del (p.Gly337fs) DEL Pathogenic
1456275 GRCh37: 17:26861430-26861430
GRCh38: 17:28534412-28534412
20 FOXN1 NM_001369369.1(FOXN1):c.1459_1460del (p.Thr487fs) DEL Pathogenic
1457907 GRCh37: 17:26862047-26862048
GRCh38: 17:28535029-28535030
21 FOXN1 NC_000017.10:g.(?_26861345)_(26864490_?)del DEL Pathogenic
1458194 GRCh37: 17:26861345-26864490
GRCh38:
22 FOXN1 NM_001369369.1(FOXN1):c.1364_1367del (p.Tyr455fs) DEL Pathogenic
1199408 GRCh37: 17:26861952-26861955
GRCh38: 17:28534934-28534937
23 FOXN1 NM_001369369.1(FOXN1):c.928-2A>G SNV Likely Pathogenic
1517590 GRCh37: 17:26861347-26861347
GRCh38: 17:28534329-28534329
24 FOXN1 NM_001369369.1(FOXN1):c.723C>A (p.Tyr241Ter) SNV Likely Pathogenic
1339544 GRCh37: 17:26856135-26856135
GRCh38: 17:28529117-28529117
25 FOXN1 NM_001369369.1(FOXN1):c.1465del (p.Gln489fs) DEL Likely Pathogenic
869415 rs1169577591 GRCh37: 17:26862049-26862049
GRCh38: 17:28535031-28535031
26 FOXN1 NM_001369369.1(FOXN1):c.1201_1216del (p.Pro401fs) DEL Likely Pathogenic
418218 rs1064793129 GRCh37: 17:26861777-26861792
GRCh38: 17:28534759-28534774
27 FOXN1 NM_001369369.1(FOXN1):c.699+1G>T SNV Likely Pathogenic
536427 rs1555609768 GRCh37: 17:26854380-26854380
GRCh38: 17:28527362-28527362
28 FOXN1 NM_001369369.1(FOXN1):c.1327del (p.Met444fs) DEL Likely Pathogenic
1067142 GRCh37: 17:26861916-26861916
GRCh38: 17:28534898-28534898
29 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
30 FOXN1 NM_001369369.1(FOXN1):c.1657A>G (p.Ser553Gly) SNV Conflicting Interpretations Of Pathogenicity
322434 rs137872361 GRCh37: 17:26864164-26864164
GRCh38: 17:28537146-28537146
31 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
32 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
33 FOXN1 NM_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr) SNV Conflicting Interpretations Of Pathogenicity
Uncertain Significance
322435 rs149225004 GRCh37: 17:26864213-26864213
GRCh38: 17:28537195-28537195
34 FOXN1 NM_001369369.1(FOXN1):c.589-12C>A SNV Conflicting Interpretations Of Pathogenicity
322421 rs185748978 GRCh37: 17:26854257-26854257
GRCh38: 17:28527239-28527239
35 FOXN1 NM_001369369.1(FOXN1):c.159C>T (p.Ser53=) SNV Conflicting Interpretations Of Pathogenicity
322413 rs368024968 GRCh37: 17:26851556-26851556
GRCh38: 17:28524538-28524538
36 FOXN1 NM_001369369.1(FOXN1):c.1815C>T (p.Ser605=) SNV Conflicting Interpretations Of Pathogenicity
890586 rs369425799 GRCh37: 17:26864322-26864322
GRCh38: 17:28537304-28537304
37 FOXN1 NM_001369369.1(FOXN1):c.1203C>A (p.Pro401=) SNV Conflicting Interpretations Of Pathogenicity
892289 rs375002692 GRCh37: 17:26861792-26861792
GRCh38: 17:28534774-28534774
38 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
39 FOXN1 NM_001369369.1(FOXN1):c.147G>A (p.Ser49=) SNV Conflicting Interpretations Of Pathogenicity
888809 rs148006498 GRCh37: 17:26851544-26851544
GRCh38: 17:28524526-28524526
40 FOXN1 NM_001369369.1(FOXN1):c.1554C>T (p.Thr518=) SNV Conflicting Interpretations Of Pathogenicity
888886 rs146694795 GRCh37: 17:26862143-26862143
GRCh38: 17:28535125-28535125
41 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
42 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
43 FOXN1 NM_001369369.1(FOXN1):c.382C>T (p.Arg128Trp) SNV Conflicting Interpretations Of Pathogenicity
625945 rs144301161 GRCh37: 17:26851779-26851779
GRCh38: 17:28524761-28524761
44 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
45 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
46 FOXN1 NM_001369369.1(FOXN1):c.1933G>A (p.Val645Met) SNV Uncertain Significance
1356106 GRCh37: 17:26864440-26864440
GRCh38: 17:28537422-28537422
47 FOXN1 NM_001369369.1(FOXN1):c.182C>A (p.Pro61His) SNV Uncertain Significance
1354971 GRCh37: 17:26851579-26851579
GRCh38: 17:28524561-28524561
48 FOXN1 NM_001369369.1(FOXN1):c.1897G>A (p.Gly633Ser) SNV Uncertain Significance
1383729 GRCh37: 17:26864404-26864404
GRCh38: 17:28537386-28537386
49 FOXN1 NM_001369369.1(FOXN1):c.689C>G (p.Pro230Arg) SNV Uncertain Significance
1403864 GRCh37: 17:26854369-26854369
GRCh38: 17:28527351-28527351
50 FOXN1 NM_001369369.1(FOXN1):c.1304G>A (p.Gly435Asp) SNV Uncertain Significance
1357532 GRCh37: 17:26861893-26861893
GRCh38: 17:28534875-28534875

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

73
# Symbol AA change Variation ID SNP ID
1 FOXN1 p.Arg320Trp VAR_083860 rs1288977950

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
12.91 KRT86 KRT71 DSG4 CDSN CDH15
2
Show member pathways
11.46 KRT86 KRT71 DSG4 CDSN
3 10.69 FOXN1 DSG4

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 desmosome GO:0030057 8.8 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 9.56 DSG4 CDSN CDH15
2 nail development GO:0035878 9.46 HOXC13 FOXN1
3 keratinocyte differentiation GO:0030216 9.35 FOXN1 DSG4 CDSN
4 hair follicle development GO:0001942 9.1 HOXC13 FOXN1 DSG4

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 structural constituent of skin epidermis GO:0030280 8.92 KRT86 KRT71

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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