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1 OMIM reference -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
7 associated genes
9 signs/symptoms
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
46,XY partial gonadal dysgenesis

DSP GATA4
MAP3K1
NR0B1
NR5A1
SRY
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DSP
(0.63)
WWOX



Citations in the biomedical literature:


Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
DSP
46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX



Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
46,XY partial gonadal dysgenesis

Synonym(s):
- Carvajal syndrome
- Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
- Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy
- Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
No MeSH references

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
46,XY partial gonadal dysgenesis

Very frequent
- Autosomal recessive inheritance
- Cardiomyopathy / hypertrophic / dilated
- Palmoplantar hyperkeratosis / keratoderma
- Woolly / frizzy hair

Occasional
- Heart / cardiac failure
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Mixed gonadal dysgenesis
- Testis anomalies

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)