TACHD
MCID: TST035
MIFTS: 20

Testicular Anomalies with or Without Congenital Heart Disease (TACHD)

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Testicular Anomalies with or Without Congenital Heart Disease

MalaCards integrated aliases for Testicular Anomalies with or Without Congenital Heart Disease:

Name: Testicular Anomalies with or Without Congenital Heart Disease 57 72 29 6 70
Tachd 57 72
Testicular Anomalies, with/without Congenital Heart Disease 39

Characteristics:

OMIM®:

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

Miscellaneous:
one family reported (last curated november 2013)


HPO:

31
testicular anomalies with or without congenital heart disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 615542
MeSH 44 D058490
UMLS 70 C3809858

Summaries for Testicular Anomalies with or Without Congenital Heart Disease

UniProtKB/Swiss-Prot : 72 Testicular anomalies with or without congenital heart disease: A 46,XY disorder of sex development with variable clinical presentation and defects in testicular differentiation and function. Clinical features include ambiguous genitalia, fused labioscrotal folds, hypospadias, microphallus, and bilateral inguinal hernia containing gonads.

MalaCards based summary : Testicular Anomalies with or Without Congenital Heart Disease, is also known as tachd. An important gene associated with Testicular Anomalies with or Without Congenital Heart Disease is GATA4 (GATA Binding Protein 4). Affiliated tissues include heart, thyroid and testis, and related phenotypes are tetralogy of fallot and cryptorchidism

More information from OMIM: 615542

Related Diseases for Testicular Anomalies with or Without Congenital Heart Disease

Symptoms & Phenotypes for Testicular Anomalies with or Without Congenital Heart Disease

Human phenotypes related to Testicular Anomalies with or Without Congenital Heart Disease:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 tetralogy of fallot 31 occasional (7.5%) HP:0001636
2 cryptorchidism 31 HP:0000028
3 micropenis 31 HP:0000054
4 ambiguous genitalia 31 HP:0000062
5 perineal hypospadias 31 HP:0000051
6 testicular dysgenesis 31 HP:0008715
7 microphallus 31 HP:0030260

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
cryptorchidism
testicular dysgenesis
testicular calcifications
disjunction between epididymis and testis
albuginea perforation

Cardiovascular Heart:
tetralogy of fallot (in some patients)
right ventricular dilation, mild (in some patients)
right ventricular hypokinesis (in some patients)

Head And Neck Neck:
thyroid nodules, benign hypervascularized

Genitourinary External Genitalia Male:
ambiguous genitalia
perineal hypospadias
microphallus
fused labioscrotal folds
hypoplasia of corpus cavernosum
more
Endocrine Features:
normal thyroid function

Laboratory Abnormalities:
low serum anti-mullerian hormone (amh) levels
normal serum testosterone levels

Clinical features from OMIM®:

615542 (Updated 20-May-2021)

Drugs & Therapeutics for Testicular Anomalies with or Without Congenital Heart Disease

Search Clinical Trials , NIH Clinical Center for Testicular Anomalies with or Without Congenital Heart Disease

Genetic Tests for Testicular Anomalies with or Without Congenital Heart Disease

Genetic tests related to Testicular Anomalies with or Without Congenital Heart Disease:

# Genetic test Affiliating Genes
1 Testicular Anomalies with or Without Congenital Heart Disease 29 GATA4

Anatomical Context for Testicular Anomalies with or Without Congenital Heart Disease

MalaCards organs/tissues related to Testicular Anomalies with or Without Congenital Heart Disease:

40
Heart, Thyroid, Testis

Publications for Testicular Anomalies with or Without Congenital Heart Disease

Articles related to Testicular Anomalies with or Without Congenital Heart Disease:

# Title Authors PMID Year
1
Loss-of-function mutation in GATA4 causes anomalies of human testicular development. 6 57
21220346 2011

Variations for Testicular Anomalies with or Without Congenital Heart Disease

ClinVar genetic disease variations for Testicular Anomalies with or Without Congenital Heart Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA4 NM_002052.5(GATA4):c.661G>A (p.Gly221Arg) SNV Pathogenic 88838 rs398122402 GRCh37: 8:11606472-11606472
GRCh38: 8:11748963-11748963
2 GATA4 NM_002052.5(GATA4):c.34G>C (p.Gly12Arg) SNV Pathogenic 644697 rs750597721 GRCh37: 8:11565855-11565855
GRCh38: 8:11708346-11708346
3 GATA4 NM_001308093.3(GATA4):c.1232A>T (p.Tyr411Phe) SNV Uncertain significance 849443 GRCh37: 8:11615884-11615884
GRCh38: 8:11758375-11758375
4 GATA4 NM_002052.5(GATA4):c.263G>T (p.Gly88Val) SNV Uncertain significance 472776 rs980402710 GRCh37: 8:11566084-11566084
GRCh38: 8:11708575-11708575

UniProtKB/Swiss-Prot genetic disease variations for Testicular Anomalies with or Without Congenital Heart Disease:

72
# Symbol AA change Variation ID SNP ID
1 GATA4 p.Gly221Arg VAR_070670 rs398122402

Expression for Testicular Anomalies with or Without Congenital Heart Disease

Search GEO for disease gene expression data for Testicular Anomalies with or Without Congenital Heart Disease.

Pathways for Testicular Anomalies with or Without Congenital Heart Disease

GO Terms for Testicular Anomalies with or Without Congenital Heart Disease

Sources for Testicular Anomalies with or Without Congenital Heart Disease

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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