TACHD
MCID: TST035
MIFTS: 19

Testicular Anomalies with or Without Congenital Heart Disease (TACHD)

Categories: Endocrine diseases, 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 58 76 30 6 74
Tachd 58 76
Testicular Anomalies, with/without Congenital Heart Disease 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
one family reported (last curated november 2013)


HPO:

33
testicular anomalies with or without congenital heart disease:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Testicular Anomalies with or Without Congenital Heart Disease

UniProtKB/Swiss-Prot : 76 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 thyroid and testis, and related phenotypes are tetralogy of fallot and cryptorchidism

Description 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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 tetralogy of fallot 33 occasional (7.5%) HP:0001636
2 cryptorchidism 33 HP:0000028
3 ambiguous genitalia 33 HP:0000062
4 micropenis 33 HP:0000054
5 perineal hypospadias 33 HP:0000051
6 testicular dysgenesis 33 HP:0008715
7 microphallus 33 HP:0030260

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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:

42
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 Year
1
Loss-of-function mutation in GATA4 causes anomalies of human testicular development. ( 21220346 )
2011

Variations for Testicular Anomalies with or Without Congenital Heart Disease

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

76
# Symbol AA change Variation ID SNP ID
1 GATA4 p.Gly221Arg VAR_070670 rs398122402

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA4 NM_002052.4(GATA4): c.661G> A (p.Gly221Arg) single nucleotide variant Pathogenic rs398122402 GRCh37 Chromosome 8, 11606472: 11606472
2 GATA4 NM_002052.4(GATA4): c.661G> A (p.Gly221Arg) single nucleotide variant Pathogenic rs398122402 GRCh38 Chromosome 8, 11748963: 11748963
3 GATA4 NM_002052.4(GATA4): c.263G> T (p.Gly88Val) single nucleotide variant Uncertain significance rs980402710 GRCh38 Chromosome 8, 11708575: 11708575
4 GATA4 NM_002052.4(GATA4): c.263G> T (p.Gly88Val) single nucleotide variant Uncertain significance rs980402710 GRCh37 Chromosome 8, 11566084: 11566084

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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