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TIDTA
MCID: TCL025
MIFTS: 52

T-Cell Immunodeficiency with Thymic Aplasia (TIDTA)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for T-Cell Immunodeficiency with Thymic Aplasia

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MalaCards integrated aliases for T-Cell Immunodeficiency with Thymic Aplasia:

Name: T-Cell Immunodeficiency with Thymic Aplasia 57 11 73
Nezelof Syndrome 57 11 19 58 75 73 14 31
T-Lymphocyte Deficiency 57 19 73 5 71
Immune Defect Due to Absence of Thymus 57 19 73
Thymic Aplasia 11 19 58
Tidta 57 11 73
Thymic Dysplasia with Normal Immunoglobulins 11 75
Nezelof's Syndrome 11 71
T-Lymphocyte Immunodeficiency 71
Thymic Aplasia Syndrome 5

Characteristics:


Inheritance:

T-Cell Immunodeficiency with Thymic Aplasia: Autosomal recessive 57
Thymic Aplasia: Autosomal recessive,X-linked recessive 58

Age Of Onset:

Thymic Aplasia: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset at birth
early death may occur
one patient with a confirmed foxn1 mutation has been reported (last curated march 2020)


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 11 DOID:2012
OMIM® 57 242700
ICD9CM 34 279.13
MeSH 43 D007153
SNOMED-CT 68 55602000
ICD10 31 D81.4
ICD10 via Orphanet 32 D81.4
UMLS via Orphanet 72 C0152094 C0685894
Orphanet 58 ORPHA83471
MedGen 40 C2752083
UMLS 71 C0152094 C1274233 C1744558
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Summaries for T-Cell Immunodeficiency with Thymic Aplasia

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OMIM®: 57 T-cell immunodeficiency with thymic aplasia (TIDTA) is an autosomal recessive disorder that is often detected at birth through newborn SCID screening with the finding of decreased T-cell receptor excision circles (TRECs). Affected individuals have selective hypo- or aplasia of the thymus, which results in T-cell immunodeficiency due to impaired T-cell development and increased susceptibility to viral infections. The phenotype is similar to T-/B+/NK+ SCID. Some patients may die in childhood; thymus transplantation may be curative (summary by Du et al., 2019). (242700) (Updated 08-Dec-2022)

MalaCards based summary: T-Cell Immunodeficiency with Thymic Aplasia, also known as nezelof syndrome, is related to t cell deficiency and t-cell immunodeficiency, congenital alopecia, and nail dystrophy. An important gene associated with T-Cell Immunodeficiency with Thymic Aplasia is TBX1 (T-Box Transcription Factor 1), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. Affiliated tissues include thymus, skin and t cells, and related phenotypes are aplasia of the thymus and decreased lymphocyte proliferation in response to mitogen

GARD: 19 A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.

Orphanet: 58 A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by atrophy of the thymus in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by selective hypo- or aplasia of the thymus, T-cell immunodeficiency due to impaired T-cell development, and increased susceptibility to viral infections.

Disease Ontology: 11 A T cell deficiency that results from the disfunction or underdevelopment of the thymus.

Wikipedia: 75 Nezelof syndrome is an autosomal recessive congenital immunodeficiency condition due to underdevelopment... more...
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Related Diseases for T-Cell Immunodeficiency with Thymic Aplasia

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Diseases related to T-Cell Immunodeficiency with Thymic Aplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 163)
# Related Disease Score Top Affiliating Genes
1 t cell deficiency 32.1 PRODH PAX1 FOXN1 CD8A CD4
2 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 31.9 KRT71 FOXN1
3 esophageal candidiasis 30.0 CD8A CD4
4 thymic dysplasia 29.9 TBX1 PSMB11 PRSS16 FOXN1 CD8A CD4
5 chromosome 22q11.2 deletion syndrome, distal 29.6 ZDHHC8 TBX1 PRODH GP1BB CRKL CHD7
6 severe combined immunodeficiency 29.5 PAX1 FOXN1 CD8A CD4
7 thymic aplasia with fetal death 11.1
8 isotretinoin syndrome 11.1
9 disseminated chorioretinitis 10.4 PSMB11 FOXN1
10 ectopic thymus 10.3 HOXA3 FOXN1 FOXI3
11 chromosome 22q11.2 duplication syndrome 10.3 TBX1 PRODH CRKL
12 charge syndrome 10.3 TBX1 PRODH CHD7
13 patent ductus arteriosus 1 10.3 TBX1 PRODH CHD7
14 mucinoses 10.2 KRT71 FOXI3
15 hilar lung neoplasm 10.2 CD8A CD4
16 oral tuberculosis 10.2 CD8A CD4
17 early yaws 10.2 CD8A CD4
18 ventilation pneumonitis 10.2 CD8A CD4
19 diffuse infiltrative lymphocytosis syndrome 10.2 CD8A CD4
20 wissler-fanconi syndrome 10.2 CD8A CD4
21 autoimmune lymphoproliferative syndrome, type iia 10.2 CD8A CD4
22 encephalitozoonosis 10.2 CD8A CD4
23 type 1 diabetes mellitus 23 10.2 CD8A CD4
24 cork-handlers' disease 10.2 CD8A CD4
25 follicular mucinosis 10.2 CD8A CD4
26 suppurative lymphadenitis 10.2 CD8A CD4
27 bird fancier's lung 10.2 CD8A CD4
28 parapsoriasis 10.2 CD8A CD4
29 primary syphilis 10.2 CD8A CD4
30 granulomatous angiitis 10.2 CD8A CD4
31 primary cutaneous gamma-delta t-cell lymphoma 10.2 CD8A CD4
32 gastroduodenitis 10.2 CD8A CD4
33 splenic abscess 10.2 CD8A CD4
34 mooren's ulcer 10.2 CD8A CD4
35 herpes simplex virus keratitis 10.2 CD8A CD4
36 granulomatous dermatitis 10.2 CD8A CD4
37 acute retinal necrosis syndrome 10.2 CD8A CD4
38 granulomatous hepatitis 10.2 CD8A CD4
39 norwegian scabies 10.2 CD8A CD4
40 orbital cellulitis 10.2 CD8A CD4
41 acute orbital inflammation 10.2 CD8A CD4
42 viral exanthem 10.2 CD8A CD4
43 tertiary syphilis 10.2 CD8A CD4
44 spongiotic dermatitis 10.2 CD8A CD4
45 cerebritis 10.2 CD8A CD4
46 skin sarcoidosis 10.2 CD8A CD4
47 metal allergy 10.2 CD8A CD4
48 autoimmune peripheral neuropathy 10.2 CD8A CD4
49 secondary syphilis 10.2 CD8A CD4
50 gastrointestinal tuberculosis 10.2 CD8A CD4

Graphical network of the top 20 diseases related to T-Cell Immunodeficiency with Thymic Aplasia:



Diseases related to T-Cell Immunodeficiency with Thymic Aplasia
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Symptoms & Phenotypes for T-Cell Immunodeficiency with Thymic Aplasia

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Human phenotypes related to T-Cell Immunodeficiency with Thymic Aplasia:

58 30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia of the thymus 58 30 Obligate (100%) Obligate (100%)
 HP:0005359
2 decreased lymphocyte proliferation in response to mitogen 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0031381
3 severe t-cell immunodeficiency 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005352
4 t lymphocytopenia 30 Very rare (1%) HP:0005403
5 decreased proportion of naive t cells 30 Hallmark (90%) HP:0031397
6 failure to thrive 58 30 Very rare (1%) Frequent (79-30%)
 HP:0001508
7 autoimmunity 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002960
8 pneumonia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002090
9 severe viral infection 58 30 Frequent (33%) Frequent (79-30%)
 HP:0031691
10 recurrent infection of the gastrointestinal tract 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004798
11 opportunistic infection 58 30 Frequent (33%) Frequent (79-30%)
 HP:0031690
12 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000821
13 chronic otitis media 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000389
14 malabsorption 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002024
15 sinusitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000246
16 thyroiditis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100646
17 recurrent staphylococcus aureus infections 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002726
18 recurrent urinary tract infections 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000010
19 meningitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001287
20 sepsis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100806
21 diarrhea 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002014
22 lymphadenopathy 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002716
23 eczematoid dermatitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000976
24 recurrent candida infections 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005401
25 recurrent streptococcus pneumoniae infections 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005366
26 coombs-positive hemolytic anemia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004844
27 hypocalcemic tetany 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003472
28 chronic oral candidiasis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0009098
29 invasive fungal infection 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0020101
30 combined immunodeficiency 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005387
31 oligoclonal t cell expansion 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0031430
32 atypical or prolonged hepatitis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0200122
33 recurrent viral infections 30 Very rare (1%) HP:0004429
34 abnormally low t cell receptor excision circle level 30 Very rare (1%) HP:0031545
35 bronchiectasis 30 HP:0002110
36 emphysema 30 HP:0002097
37 lymphopenia 30 HP:0001888
38 cellular immunodeficiency 58 Very frequent (99-80%)
39 chronic diarrhea 30 HP:0002028
40 recurrent pneumonia 30 HP:0006532
41 recurrent infections 58 Very frequent (99-80%)
42 hepatosplenomegaly 30 HP:0001433
43 recurrent bronchopulmonary infections 30 HP:0006538
44 recurrent bacterial infections 58 Frequent (79-30%)
45 decrease in t cell count 58 Very frequent (99-80%)
46 reduced proportion of naive t cells 58 Very frequent (99-80%)
47 severe infection 58 Frequent (79-30%)
48 pyoderma 30 HP:0000999
49 reduced delayed hypersensitivity 30 HP:0002972

Symptoms via clinical synopsis from OMIM®:

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

Respiratory:
respiratory infections, recurrent, viral

Immunology:
susceptibility to viral infections
thymic hypoplasia
absent thymus
t-cell lymphopenia
cd8+ t-cell depletion
more

Clinical features from OMIM®:

242700 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to T-Cell Immunodeficiency with Thymic Aplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.11 CD4 CD8A CHD7 CRKL FOXI3 FOXN1
2 endocrine/exocrine gland MP:0005379 9.93 CD4 CD8A CHD7 CRKL FOXN1 GP1BB
3 limbs/digits/tail MP:0005371 9.87 CHD7 CRKL HOXA3 PAX1 PRODH TBX1
4 hearing/vestibular/ear MP:0005377 9.73 CHD7 CRKL FOXI3 FOXN1 KRT71 TBX1
5 craniofacial MP:0005382 9.5 CHD7 CRKL FOXI3 HOXA3 PAX1 TBX1
6 hematopoietic system MP:0005397 9.44 CD4 CD8A CHD7 CRKL FOXN1 GP1BB
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Drugs & Therapeutics for T-Cell Immunodeficiency with Thymic Aplasia

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Search Clinical Trials, NIH Clinical Center for T-Cell Immunodeficiency with Thymic Aplasia

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Genetic Tests for T-Cell Immunodeficiency with Thymic Aplasia

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Anatomical Context for T-Cell Immunodeficiency with Thymic Aplasia

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Organs/tissues related to T-Cell Immunodeficiency with Thymic Aplasia:

MalaCards : Thymus, Skin, T Cells, Bone Marrow, Small Intestine, Bone, Heart
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Publications for T-Cell Immunodeficiency with Thymic Aplasia

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Articles related to T-Cell Immunodeficiency with Thymic Aplasia:

(show top 50) (show all 189)
# Title Authors PMID Year
1
FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. 57 5
31566583 2019
2
Thymic aplasia with lymphopenia, plasma cells, and normal immunoglobulins. Relation to measles virus infection. 62 57
4166528 1967
3
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 5
32576985 2020
4
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
5
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes. 5
29500247 2018
6
A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease. 5
25860641 2015
7
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. 5
25516202 2014
8
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. 5
25205790 2014
9
Rare de novo copy number variants in patients with congenital pulmonary atresia. 5
24826987 2014
10
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia. 5
24637876 2014
11
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
12
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. 5
15703190 2005
13
Role of TBX1 in human del22q11.2 syndrome. 5
14585638 2003
14
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. 5
11242049 2001
15
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. 5
11239417 2001
16
Familial lymphopenia with T lymphocyte defect. 57
4272636 1974
17
The syndrome of cellular immunodeficiency with immunoglobulins. 57
4810725 1974
18
Congenital aplasia of the thymus gland (DiGeorge's syndrome). 57
4177112 1968
19
Thymic dysplasia. A separable entity from "swiss agammaglobulinemia". 57
5338315 1967
20
Dissociation of delayed-hypersensitivy and antibody-synthesising capacities in man. Report of two sibships with thymic dysplasia, lymphoid tissue depletion, and normal immunoglobulins. 57
4161068 1966
21
Presence of plasma cells and gamma-1-M-globulin synthesis in a patient with thymic alymphoplasia. 57
4159742 1966
22
[HEREDITARY THYMIC HYPOPLASIA: ITS PLACE AND RESPONSIBILITY IN A CASE OF LYMPHOCYTIC, NORMOPLASMOCYTIC AND NORMOGLOBULINEMIC APLASIA IN AN INFANT]. 57
14195287 1964
23
PNEUMOCYSTIS CARINII PENUMONIA AND PROGRESSIVE VACCINIA IN SIBLINGS. 57
14160084 1964
24
Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome. 62
35879406 2022
25
Spontaneous resolution of severe idiopathic T cell lymphopenia. 62
35447312 2022
26
Lymphopenia and Mechanisms of T-Cell Regeneration. 62
35967247 2022
27
Differences in epithelial-mesenchymal-transition in paraquat-induced pulmonary fibrosis in BALB/C and BALB/C (nu/nu) nude mice. 62
34507117 2021
28
CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease. 62
34104029 2021
29
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis. 62
31447097 2019
30
Neonatal Death Caused by Interrupted Aortic Arch Associated With 22q11.2 Deletion Syndrome: An Autopsy Case Report. 62
30562178 2019
31
Activation of T Lymphocytes as a Novel Mechanism in Beta1-Adrenergic Receptor Autoantibody-Induced Cardiac Remodeling. 62
30747396 2019
32
A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome. 62
31428446 2019
33
Antenatal Diagnosis of Fetal Retinoid Syndrome at 20 Weeks of Gestation: A Case Report. 62
29843537 2018
34
22q11 Deletion Syndrome with Vascular Anomalies. 62
29441224 2018
35
Cardiac rehabilitation in an adolescent with DiGeorge Syndrome. 62
27858403 2017
36
Congenital diaphragmatic hernia after exposure to a triple retinoic acid antagonist during pregnancy. 62
21107276 2017
37
Disseminated Mycobacterium kansasii disease in complete DiGeorge syndrome. 62
26048260 2015
38
Neonatal Levels of T-cell Receptor Excision Circles (TREC) in Patients with 22q11.2 Deletion Syndrome and Later Disease Features. 62
25814142 2015
39
Helios expression in T-regulatory cells in patients with di George Syndrome. 62
25008482 2014
40
Primary immunodeficiency diagnosed at autopsy: a case report. 62
24996427 2014
41
Clinical features of cytotoxic CD8+ T-lymphocyte deficiency in chronic rhinosinusitis patients: a demographic and functional study. 62
24639246 2014
42
T-Lymphocyte Deficiency Exacerbates Behavioral Deficits in the 6-OHDA Unilateral Lesion Rat Model for Parkinson's Disease. 62
25346865 2014
43
Mastitis caused by Mycobacterium kansasii infection in a dog. 62
23808608 2013
44
Long-term effects of alemtuzumab on regulatory and memory T-cell subsets in kidney transplantation. 62
22343334 2012
45
Progressive multifocal leukoencephalopathy associated with mycophenolate mofetil treatment in a woman with lupus and CD4+ T-lymphocyte deficiency. 62
21976399 2012
46
Progressive multifocal leukoencephalopathy associated with isolated CD8+ T-lymphocyte deficiency mimicking tumefactive MS. 62
21786075 2011
47
Nonhealing wound due to Rhodococcus equi in an apparently immunocompetent patient, revealing CD8+ T-lymphocyte deficiency. 62
20881171 2010
48
Thymopoiesis in mice depends on a Foxn1-positive thymic epithelial cell lineage. 62
20823228 2010
49
Both normal memory counts and decreased naive cells favor intrinsic defect over early senescence of Down syndrome T lymphocytes. 62
20098345 2010
50
Endothelin-A-receptor antagonism with atrasentan exhibits limited activity on the KU-19-19 bladder cancer cell line in a mouse model. 62
19430814 2009
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Variations for T-Cell Immunodeficiency with Thymic Aplasia

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ClinVar genetic disease variations for T-Cell Immunodeficiency with Thymic Aplasia:

5 (show top 50) (show all 398)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 16 genes NC_000022.10:g.(?_18900668)_(19770565_?)del DEL Pathogenic
 455788 GRCh37: 22:18900668-19770565
GRCh38:
2 overlap with 16 genes NC_000022.10:g.(?_18910310)_(19770565_?)del DEL Pathogenic
 526039 GRCh37: 22:18910310-19770565
GRCh38:
3 overlap with 2 genes NC_000022.11:g.(?_19755901)_(19783042_?)del DEL Pathogenic
 583599 GRCh37: 22:19743424-19770565
GRCh38: 22:19755901-19783042
4 overlap with 14 genes NC_000022.11:g.(?_19722428)_(19975757_?)del DEL Pathogenic
 584158 GRCh37: 22:19709951-19963280
GRCh38: 22:19722428-19975757
5 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18901004-21408430) CN LOSS Pathogenic
 625586 GRCh37: 22:18901004-21408430
GRCh38:
6 overlap with 28 genes GRCh37/hg19 22q11.21(chr22:18918741-20311922) CN LOSS Pathogenic
 625620 GRCh37: 22:18918741-20311922
GRCh38:
7 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912403-21431174) CN LOSS Pathogenic
 625621 GRCh37: 22:18912403-21431174
GRCh38:
8 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912870-21431174) CN LOSS Pathogenic
 625625 GRCh37: 22:18912870-21431174
GRCh38:
9 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18892575-21460220) CN LOSS Pathogenic
 625679 GRCh37: 22:18892575-21460220
GRCh38:
10 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18892575-21460220) CN LOSS Pathogenic
 625684 GRCh37: 22:18892575-21460220
GRCh38:
11 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18900755-21800277) CN LOSS Pathogenic
 625739 GRCh37: 22:18900755-21800277
GRCh38:
12 TBX1 NC_000022.11:g.(?_19755950)_(19759697_?)del DEL Pathogenic
 640457 GRCh37: 22:19743473-19747220
GRCh38: 22:19755950-19759697
13 overlap with 2 genes NC_000022.11:g.(?_19755901)_(19766877_?)del DEL Pathogenic
 660156 GRCh37: 22:19743424-19754400
GRCh38: 22:19755901-19766877
14 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1 CN LOSS Pathogenic
 666443 GRCh37: 22:18661724-21505417
GRCh38:
15 overlap with 78 genes DEL Pathogenic
 812919 GRCh37: 22:18475385-23764120
GRCh38:
16 FOXN1 NM_001369369.1(FOXN1):c.933_936dup (p.Asp313fs) DUP Pathogenic
 827574 rs1597566356 GRCh37: 17:26861352-26861353
GRCh38: 17:28534334-28534335
17 FOXN1 NM_001369369.1(FOXN1):c.1089_1103del (p.Trp363_Pro368delinsCys) DEL Pathogenic
 827575 rs1597566726 GRCh37: 17:26861510-26861524
GRCh38: 17:28534492-28534506
18 overlap with 11 genes NC_000022.10:g.(?_19163623)_(19770565_?)del DEL Pathogenic
 831644 GRCh37: 22:19163623-19770565
GRCh38:
19 TBX1 NC_000022.11:g.(?_19755901)_(19759687_?)del DEL Pathogenic
 831941 GRCh37: 22:19743424-19747210
GRCh38:
20 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912403-21431174) CN LOSS Pathogenic
 915966 GRCh37: 22:18912403-21431174
GRCh38:
21 TBX1 NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs) INSERT Pathogenic
 1031062 rs1936852915 GRCh37: 22:19754053-19754054
GRCh38: 22:19766530-19766531
22 TBX1 NC_000022.10:g.(?_19748454)_19748649del DEL Pathogenic
 1071029 GRCh37:
GRCh38:
23 overlap with 48 genes DEL Pathogenic
 1077187 GRCh37: 22:18893882-21571027
GRCh38:
24 overlap with 48 genes DEL Pathogenic
 1077190 GRCh37: 22:18893882-21563420
GRCh38:
25 TBX1 NM_001379200.1(TBX1):c.89_284del (p.Leu30fs) DEL Pathogenic
 971780 rs1936634853 GRCh37: 22:19748451-19748646
GRCh38: 22:19760928-19761123
26 TBX1 NM_001379200.1(TBX1):c.195_229del (p.Ala66fs) DEL Pathogenic
 1354584 GRCh37: 22:19748552-19748586
GRCh38: 22:19761029-19761063
27 TBX1 NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter) SNV Pathogenic
 1378052 GRCh37: 22:19748552-19748552
GRCh38: 22:19761029-19761029
28 TBX1 NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter) SNV Pathogenic
 1445413 GRCh37: 22:19753938-19753938
GRCh38: 22:19766415-19766415
29 TBX1 NM_001379200.1(TBX1):c.199_224del (p.Pro67fs) DEL Pathogenic
 949172 rs1936640897 GRCh37: 22:19748554-19748579
GRCh38: 22:19761031-19761056
30 TBX1 NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter) SNV Pathogenic
 526036 rs1555895466 GRCh37: 22:19748685-19748685
GRCh38: 22:19761162-19761162
31 overlap with 43 genes NC_000022.10:g.(?_18900688)_(21351637_?)del DEL Pathogenic
 1071026 GRCh37: 22:18900688-21351637
GRCh38:
32 TBX1 NC_000022.10:g.(?_19743226)_(19755855_?)del DEL Pathogenic
 1071027 GRCh37: 22:19743226-19755855
GRCh38:
33 TBX1 NC_000022.10:g.(?_19747167)_(19754390_?)del DEL Pathogenic
 1071028 GRCh37: 22:19747167-19754390
GRCh38:
34 TBX1 NM_001379200.1(TBX1):c.1117del (p.Leu373fs) DEL Pathogenic
 1071222 GRCh37: 22:19753992-19753992
GRCh38: 22:19766469-19766469
35 TBX1 NM_001379200.1(TBX1):c.1096del (p.Asp366fs) DEL Pathogenic
 1073688 GRCh37: 22:19753968-19753968
GRCh38: 22:19766445-19766445
36 TBX1 NM_001379200.1(TBX1):c.881del (p.Lys294fs) DEL Pathogenic
 1432687 GRCh37: 22:19753293-19753293
GRCh38: 22:19765770-19765770
37 TBX1 NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs) DUP Pathogenic
 1402928 GRCh37: 22:19752561-19752562
GRCh38: 22:19765038-19765039
38 overlap with 16 genes NC_000022.10:g.(?_18900668)_(19747220_?)del DEL Pathogenic
 1456987 GRCh37: 22:18900668-19747220
GRCh38:
39 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18645353-21800797) CN LOSS Pathogenic
 1703639 GRCh37: 22:18645353-21800797
GRCh38:
40 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18644790-21798907) CN LOSS Pathogenic
 1703640 GRCh37: 22:18644790-21798907
GRCh38:
41 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18916842-21798907) CN LOSS Pathogenic
 1703641 GRCh37: 22:18916842-21798907
GRCh38:
42 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18644790-21800471) CN LOSS Pathogenic
 1703642 GRCh37: 22:18644790-21800471
GRCh38:
43 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18648866-21798907) CN LOSS Pathogenic
 1703643 GRCh37: 22:18648866-21798907
GRCh38:
44 overlap with 48 genes GRCh37/hg19 22q11.21(chr22:18893344-21650280) CN LOSS Pathogenic
 1703644 GRCh37: 22:18893344-21650280
GRCh38:
45 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1 CN LOSS Pathogenic
 636280 GRCh37: 22:18912231-21465672
GRCh38:
46 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 CN LOSS Pathogenic
 636281 GRCh37: 22:18631364-21800471
GRCh38:
47 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1 CN LOSS Pathogenic
 636282 GRCh37: 22:18922151-21449911
GRCh38:
48 overlap with 51 genes GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 CN LOSS Pathogenic
 636283 GRCh37: 22:18636749-21800471
GRCh38:
49 overlap with 49 genes GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 CN LOSS Pathogenic
 636284 GRCh37: 22:18919477-21800471
GRCh38:
50 TBX1 NM_001379200.1(TBX1):c.711+1G>A SNV Pathogenic/Likely Pathogenic
 1481145 GRCh37: 22:19751850-19751850
GRCh38: 22:19764327-19764327
Sources

Expression for T-Cell Immunodeficiency with Thymic Aplasia

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Search GEO for disease gene expression data for T-Cell Immunodeficiency with Thymic Aplasia.
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Pathways for T-Cell Immunodeficiency with Thymic Aplasia

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Pathways related to T-Cell Immunodeficiency with Thymic Aplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
22q11.2 copy number variation syndrome 74
11.14 ZDHHC8 TBX1 PRODH GP1BB CRKL
Sources

GO Terms for T-Cell Immunodeficiency with Thymic Aplasia

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Biological processes related to T-Cell Immunodeficiency with Thymic Aplasia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 outflow tract morphogenesis GO:0003151 9.95 TBX2 TBX1 CRKL
2 blood vessel development GO:0001568 9.89 TBX1 CRKL CHD7
3 heart morphogenesis GO:0003007 9.85 TBX2 TBX1 CHD7
4 pattern specification process GO:0007389 9.73 TBX1 PAX1 CRKL
5 semicircular canal morphogenesis GO:0048752 9.71 TBX1 CHD7
6 aorta morphogenesis GO:0035909 9.63 TBX2 TBX1 CHD7
7 pharynx development GO:0060465 9.62 CRKL TBX2
8 thymus development GO:0048538 9.56 TBX1 PAX1 HOXA3 FOXN1 CRKL
9 ear morphogenesis GO:0042471 9.54 TBX1 CHD7
10 CD8-positive, alpha-beta T cell differentiation GO:0043374 9.43 PSMB11 PAX1
11 parathyroid gland development GO:0060017 9.17 TBX1 PAX1 HOXA3 CRKL

Molecular functions related to T-Cell Immunodeficiency with Thymic Aplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.17 TBX2 TBX1 PAX1 HOXA3 FOXN1 FOXI3
Sources

Sources for T-Cell Immunodeficiency with Thymic Aplasia

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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