TIDAND
MCID: TCL016
MIFTS: 43

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 56 12 25 73 13 15
T-Cell Immunodeficiency, Congenital Alopecia and Nail Dystrophy 52 29 6 39 71
Winged Helix Deficiency 12 52 25 58 73
Alymphoid Cystic Thymic Dysgenesis 12 52 25 58
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy Syndrome 12 52 58
Pignata Guarino Syndrome 52 25 73
Congenital Alopecia and Nail Dystrophy Associated with Severe Functional T-Cell Immunodeficiency 52 25
Severe Combined Immunodeficiency Due to Foxn1 Deficiency 52 58
Foxn1 Deficiency 52 58
Tidand 56 73
Severe T-Cell Immunodeficiency-Congenital Alopecia-Nail Dystrophy 73
T-Cell Immunodeficiency Congenital Alopecia and Nail Dystrophy 36

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 601705
KEGG 36 H01181
ICD10 32 D82.8
ICD10 via Orphanet 33 D82.8
Orphanet 58 ORPHA169095
MedGen 41 C1866426
UMLS 71 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), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include t cells, skin and thymus, 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 : 52 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. Visit the Orphanet disease page for more resources.

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 : 73 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 33)
# 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
15 mucinoses 10.0 KRT74 KRT71
16 hypotrichosis simplex of the scalp 9.9 KRT74 CDSN
17 ectodermal dysplasia 4, hair/nail type 9.8 KRT74 HOXC13
18 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.8 HOXC13 FOXN1
19 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.7 KRT74 KRT71
20 hypotrichosis 11 9.6 LPAR6 LIPH KRT74
21 familial woolly hair syndrome 9.4 LPAR6 LIPH KRT74 KRT71
22 hypotrichosis 3 9.4 LPAR6 LIPH KRT74 KRT71
23 atrichia with papular lesions 9.1 LIPH KRT74 FOXN1 DSG4
24 hypotrichosis 13 9.1 LPAR6 LIPH KRT71 DSG4
25 hypotrichosis 4 9.0 LPAR6 LIPH KRT74 HOXC13 CDSN
26 hypotrichosis simplex 9.0 LPAR6 LIPH DSG4 CDSN
27 hypotrichosis 6 8.8 LPAR6 LIPH KRT74 KRT71 DSG4
28 hypotrichosis 7 8.7 LPAR6 LIPH KRT74 DSG4 CDSN
29 hypotrichosis, congenital, with juvenile macular dystrophy 8.6 LPAR6 LIPH DSG4 CDSN CDH15
30 hypotrichosis 8 8.3 LPAR6 LIPH KRT74 DSG4 CDSN CDH15
31 monilethrix 8.1 LPAR6 LIPH KRT74 KRT71 HOXC13 DSG4
32 hypotrichosis 7.9 LPAR6 LIPH KRT74 KRT71 HOXC13 FOXN1
33 hair disease 7.9 LPAR6 LIPH KRT74 KRT71 HOXC13 FOXN1

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

Symptoms via clinical synopsis from OMIM:

56
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

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.47 DSG4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.47 DSG4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.47 DSG4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.47 DSG4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.47 DSG4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.47 HOXC13
7 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.47 HOXC13
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.47 HOXC13
9 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.47 DSG4 HOXC13
10 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.47 DSG4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.47 HOXC13
12 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.47 HOXC13
13 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.47 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 9.02 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, Skin, Thymus, Brain, Spinal Cord, Thyroid, B Cells

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. 56 6
21507891 2011
2
FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. 56 6
18339010 2008
3
Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population. 56 6
15180707 2004
4
Exposing the human nude phenotype. 56 6
10206641 1999
5
Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. 56 6
8911612 1996
6
New member of the winged-helix protein family disrupted in mouse and rat nude mutations. 56
7969402 1994
7
'Nude', a new hairless gene with pleiotropic effects in the mouse. 56
5980117 1966
8
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches. 61
28932937 2017
9
FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis. 61
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXN1 NM_003593.2(FOXN1):c.763C>T (p.Arg255Ter)SNV Pathogenic 8757 rs104894562 17:26856175-26856175 17:28529157-28529157
2 FOXN1 NM_001369369.1(FOXN1):c.1445_1449delinsCCA (p.Arg482fs)indel Pathogenic 576959 rs1567887558 17:26862034-26862038 17:28535016-28535020
3 FOXN1 NM_003593.2(FOXN1):c.728_729dup (p.Pro244fs)duplication Pathogenic 663245 17:26856138-26856139 17:28529120-28529121
4 FOXN1 NM_003593.2(FOXN1):c.1086dup (p.Trp363fs)duplication Pathogenic 639621 17:26861502-26861503 17:28534484-28534485
5 FOXN1 NM_003593.2(FOXN1):c.1420C>T (p.Gln474Ter)SNV Pathogenic 660886 17:26862009-26862009 17:28534991-28534991
6 FOXN1 NM_003593.2(FOXN1):c.699+1G>TSNV Likely pathogenic 536427 rs1555609768 17:26854380-26854380 17:28527362-28527362
7 FOXN1 NM_003593.2(FOXN1):c.1201_1216del (p.Pro401fs)deletion Conflicting interpretations of pathogenicity 418218 rs1064793129 17:26861777-26861792 17:28534759-28534774
8 FOXN1 NM_003593.2(FOXN1):c.279C>G (p.Leu93=)SNV Conflicting interpretations of pathogenicity 322416 rs374082998 17:26851676-26851676 17:28524658-28524658
9 FOXN1 NM_003593.2(FOXN1):c.1184C>T (p.Pro395Leu)SNV Conflicting interpretations of pathogenicity 322428 rs199739943 17:26861773-26861773 17:28534755-28534755
10 FOXN1 NM_003593.2(FOXN1):c.546C>T (p.Asn182=)SNV Conflicting interpretations of pathogenicity 322419 rs62640040 17:26851943-26851943 17:28524925-28524925
11 FOXN1 NM_003593.2(FOXN1):c.1443G>T (p.Leu481=)SNV Conflicting interpretations of pathogenicity 322431 rs548817079 17:26862032-26862032 17:28535014-28535014
12 FOXN1 NM_003593.2(FOXN1):c.1556T>A (p.Leu519Gln)SNV Conflicting interpretations of pathogenicity 322433 rs34814444 17:26862145-26862145 17:28535127-28535127
13 FOXN1 NM_003593.2(FOXN1):c.497C>T (p.Ala166Val)SNV Conflicting interpretations of pathogenicity 322417 rs367793349 17:26851894-26851894 17:28524876-28524876
14 FOXN1 NM_003593.2(FOXN1):c.539G>C (p.Trp180Ser)SNV Uncertain significance 322418 rs765090704 17:26851936-26851936 17:28524918-28524918
15 FOXN1 NM_003593.2(FOXN1):c.611C>T (p.Pro204Leu)SNV Uncertain significance 322422 rs886052757 17:26854291-26854291 17:28527273-28527273
16 FOXN1 NM_003593.2(FOXN1):c.1657A>G (p.Ser553Gly)SNV Uncertain significance 322434 rs137872361 17:26864164-26864164 17:28537146-28537146
17 FOXN1 NM_003593.2(FOXN1):c.1135+3G>ASNV Uncertain significance 322426 rs755005215 17:26861559-26861559 17:28534541-28534541
18 FOXN1 NM_003593.2(FOXN1):c.1216G>A (p.Gly406Ser)SNV Uncertain significance 322429 rs772140783 17:26861805-26861805 17:28534787-28534787
19 FOXN1 NM_003593.2(FOXN1):c.1549G>T (p.Asp517Tyr)SNV Uncertain significance 322432 rs200053524 17:26862138-26862138 17:28535120-28535120
20 FOXN1 NM_003593.2(FOXN1):c.*154G>ASNV Uncertain significance 322439 rs188710272 17:26864608-26864608 17:28537590-28537590
21 FOXN1 NM_003593.2(FOXN1):c.*300C>TSNV Uncertain significance 322443 rs569202493 17:26864754-26864754 17:28537736-28537736
22 FOXN1 NM_003593.2(FOXN1):c.1706C>A (p.Ser569Tyr)SNV Uncertain significance 322435 rs149225004 17:26864213-26864213 17:28537195-28537195
23 FOXN1 NM_003593.2(FOXN1):c.1822C>T (p.Leu608=)SNV Uncertain significance 322437 rs886052758 17:26864329-26864329 17:28537311-28537311
24 FOXN1 NM_003593.2(FOXN1):c.*15C>TSNV Uncertain significance 322438 rs557508550 17:26864469-26864469 17:28537451-28537451
25 FOXN1 NM_003593.2(FOXN1):c.*454A>CSNV Uncertain significance 322445 rs192432126 17:26864908-26864908 17:28537890-28537890
26 FOXN1 NM_003593.2(FOXN1):c.*620C>TSNV Uncertain significance 322448 rs886052762 17:26865074-26865074 17:28538056-28538056
27 FOXN1 NM_003593.2(FOXN1):c.*626G>CSNV Uncertain significance 322450 rs528836565 17:26865080-26865080 17:28538062-28538062
28 FOXN1 NM_003593.2(FOXN1):c.226G>A (p.Glu76Lys)SNV Uncertain significance 322415 rs142248984 17:26851623-26851623 17:28524605-28524605
29 FOXN1 NM_003593.2(FOXN1):c.709G>A (p.Gly237Ser)SNV Uncertain significance 322423 rs745321270 17:26856121-26856121 17:28529103-28529103
30 FOXN1 NM_003593.2(FOXN1):c.*280C>GSNV Uncertain significance 322442 rs532847274 17:26864734-26864734 17:28537716-28537716
31 FOXN1 NM_003593.2(FOXN1):c.*318A>GSNV Uncertain significance 322444 rs886052759 17:26864772-26864772 17:28537754-28537754
32 FOXN1 NM_003593.2(FOXN1):c.*461C>TSNV Uncertain significance 322446 rs886052760 17:26864915-26864915 17:28537897-28537897
33 FOXN1 NM_003593.2(FOXN1):c.*622C>GSNV Uncertain significance 322449 rs886052763 17:26865076-26865076 17:28538058-28538058
34 FOXN1 NM_003593.2(FOXN1):c.*206G>ASNV Uncertain significance 322440 rs774039480 17:26864660-26864660 17:28537642-28537642
35 FOXN1 NM_003593.2(FOXN1):c.*496C>TSNV Uncertain significance 322447 rs886052761 17:26864950-26864950 17:28537932-28537932
36 FOXN1 NM_003593.2(FOXN1):c.159C>T (p.Ser53=)SNV Uncertain significance 322413 rs368024968 17:26851556-26851556 17:28524538-28524538
37 FOXN1 NM_003593.2(FOXN1):c.589-12C>ASNV Uncertain significance 322421 rs185748978 17:26854257-26854257 17:28527239-28527239
38 FOXN1 NM_003593.2(FOXN1):c.79C>T (p.Leu27Phe)SNV Uncertain significance 468553 rs779728088 17:26851066-26851066 17:28524048-28524048
39 FOXN1 NM_003593.2(FOXN1):c.1289C>T (p.Pro430Leu)SNV Uncertain significance 468550 rs149982141 17:26861878-26861878 17:28534860-28534860
40 FOXN1 NM_003593.2(FOXN1):c.1444C>T (p.Arg482Trp)SNV Uncertain significance 536429 rs1278753857 17:26862033-26862033 17:28535015-28535015
41 FOXN1 NM_003593.2(FOXN1):c.787G>A (p.Asp263Asn)SNV Uncertain significance 536426 rs754796282 17:26856199-26856199 17:28529181-28529181
42 FOXN1 NM_003593.2(FOXN1):c.194C>A (p.Pro65Gln)SNV Uncertain significance 571733 rs777608417 17:26851591-26851591 17:28524573-28524573
43 FOXN1 NM_003593.2(FOXN1):c.1381G>A (p.Gly461Ser)SNV Uncertain significance 580345 rs769545767 17:26861970-26861970 17:28534952-28534952
44 FOXN1 NM_003593.2(FOXN1):c.254G>A (p.Gly85Asp)SNV Uncertain significance 570479 rs868443961 17:26851651-26851651 17:28524633-28524633
45 FOXN1 NM_003593.2(FOXN1):c.724C>T (p.Pro242Ser)SNV Uncertain significance 573163 rs140921495 17:26856136-26856136 17:28529118-28529118
46 FOXN1 NM_003593.2(FOXN1):c.382C>T (p.Arg128Trp)SNV Uncertain significance 625945 rs144301161 17:26851779-26851779 17:28524761-28524761
47 FOXN1 NM_003593.2(FOXN1):c.1585del (p.Leu529fs)deletion Uncertain significance 626107 rs1161194345 17:26862173-26862173 17:28535155-28535155
48 FOXN1 NM_003593.2(FOXN1):c.41C>T (p.Pro14Leu)SNV Uncertain significance 640324 17:26851028-26851028 17:28524010-28524010
49 FOXN1 NM_003593.2(FOXN1):c.82A>G (p.Met28Val)SNV Uncertain significance 657990 17:26851069-26851069 17:28524051-28524051
50 FOXN1 NM_003593.2(FOXN1):c.160G>A (p.Asp54Asn)SNV Uncertain significance 665813 17:26851557-26851557 17:28524539-28524539

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
12.57 KRT74 KRT71 DSG4 CDSN CDH15
2
Show member pathways
11.38 KRT74 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 keratin filament GO:0045095 9.16 KRT74 KRT71
2 cornified envelope GO:0001533 8.96 DSG4 CDSN
3 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 keratinization GO:0031424 9.54 KRT74 KRT71 DSG4
2 cell-cell adhesion GO:0098609 9.5 DSG4 CDSN CDH15
3 epidermis development GO:0008544 9.4 FOXN1 CDSN
4 keratinocyte differentiation GO:0030216 9.33 FOXN1 DSG4 CDSN
5 nail development GO:0035878 9.26 HOXC13 FOXN1
6 hair follicle development GO:0001942 9.13 HOXC13 FOXN1 DSG4
7 cornification GO:0070268 8.92 KRT74 KRT71 DSG4 CDSN

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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