TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE

General Information (adopted from Orphanet):

Synonyms, Signs: TACHD
Number of Symptoms 20
OrphanetNr:
OMIM Id: 615542
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000062) Ambiguous genitalia 74 / 7739
2
(HPO:0000028) Cryptorchidism 347 / 7739
3
(HPO:0008715) Testicular dysgenesis 2 / 7739
4
(HPO:0000054) Micropenis 257 / 7739
5
(HPO:0000051) Perineal hypospadias 6 / 7739
6
(HPO:0001636) Tetralogy of Fallot rare [HPO:skoehler] 104 / 7739
7
(OMIM) Albuginea perforation 1 / 7739
8
(OMIM) Normal serum testosterone levels 1 / 7739
9
(OMIM) Right ventricular hypokinesis (in some patients) 5 / 7739
10
(OMIM) Inguinal hernia containing gonads, bilateral 1 / 7739
11
(OMIM) Thyroid nodules, benign hypervascularized 1 / 7739
12
(OMIM) Right ventricular dilation, mild (in some patients) 1 / 7739
13
(OMIM) Disjunction between epididymis and testis 1 / 7739
14
(OMIM) Low serum anti-Mullerian hormone (AMH) levels 1 / 7739
15
(OMIM) Normal thyroid function 2 / 7739
16
(OMIM) Fused labioscrotal folds 1 / 7739
17
(OMIM) Hypoplasia of corpus cavernosum 1 / 7739
18
(OMIM) Testicular calcifications 1 / 7739
19
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
(HPO:0030260) Microphallus 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lourenco et al. (2011) described a French family in which 2 brothers and their male cousin had a 46,XY disorder of sex development (DSD) with variable clinical presentation but consistent with defects in testicular differentiation and function; all ...
Molecular genetics OMIM In 2 brothers and their male cousin from a French family with testicular anomalies and congenital heart disease, Lourenco et al. (2011) identified heterozygosity for a missense mutation in the GATA4 gene (G221R; 600576.0018). Their apparently unaffected mothers ...