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 57 75 29 6 73
Tachd 57 75
Testicular Anomalies, with/without Congenital Heart Disease 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one family reported (last curated november 2013)


HPO:

32
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 : 75 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 cryptorchidism and tetralogy of fallot

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 tetralogy of fallot 32 occasional (7.5%) HP:0001636
3 ambiguous genitalia 32 HP:0000062
4 micropenis 32 HP:0000054
5 perineal hypospadias 32 HP:0000051
6 testicular dysgenesis 32 HP:0008715
7 microphallus 32 HP:0030260

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:

41
Heart, Thyroid, Testis

Publications for Testicular Anomalies with or Without Congenital Heart Disease

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:

75
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....