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1 OMIM reference -
1 associated gene
9 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
4 associated genes
3 signs/symptoms
Partial androgen insensitivity syndrome
Catecholaminergic polymorphic ventricular tachycardia

AR CALM1
CASQ2
RYR2
TRDN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AR
(0.79)
CALM1



Citations in the biomedical literature:


Partial androgen insensitivity syndrome
AR
Catecholaminergic polymorphic ventricular tachycardia
CALM1 CASQ2 RYR2 TRDN



Partial androgen insensitivity syndrome
Catecholaminergic polymorphic ventricular tachycardia

Synonym(s):
- PAIS
- Partial androgen resistance syndrome

Synonym(s):
- Bidirectional tachycardia
- Bidirectional tachycardia induced by catecholamine
- CPVT
- Double tachycardia induced by catecholamines
- Malignant paroxysmal ventricular tachycardia
- Multifocal ventricular premature beats
- Paroxysmal ventricular fibrillation
- Syncopal paroxysmal tachycardia
- Syncopal tachyarythmia

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal dominant

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

Partial androgen insensitivity syndrome
Catecholaminergic polymorphic ventricular tachycardia

Very frequent
- Bifid scrotum
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Sterility / hypofertility
- Uterine / uterus / Fallopian tubes anomalies

Frequent
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)

Occasional
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets


Very frequent
- Cardiac rhythm disorder / arrhythmia

Frequent
- Dizziness

Occasional
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest