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7 OMIM references -
8 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
13 OMIM references -
11 associated genes
20 signs/symptoms
46,XY complete gonadal dysgenesis
Blackfan-Diamond anemia

CBX2 RPL11
DHH RPL15
DMRT1 RPL26
DMRT2 RPL35A
MAP3K1 RPL5
NR0B1 RPS10
NR5A1 RPS17
SRY RPS19
RPS24
RPS26
RPS7


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAP3K1
(0.72)
RPL35A



Citations in the biomedical literature:


46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY
Blackfan-Diamond anemia
RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
RPS17 RPS19 RPS24 RPS26 RPS7



46,XY complete gonadal dysgenesis
Blackfan-Diamond anemia

Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome

Synonym(s):
- Aase syndrome
- Aase-Smith II syndrome
- Congenital PRCA
- Congenital hypoplastic anemia, Blackfan-Diamond type
- Congenital pure red cell aplasia

Classification (Orphanet):
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare skin disease
- Rare urogenital disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
7 OMIM references -
No MeSH references
External references:
13 OMIM references -
1 MeSH reference: D029503


COMMON
SIGNS
- Late puberty / hypogonadism / hypogenitalism


46,XY complete gonadal dysgenesis
Blackfan-Diamond anemia

Very frequent
- Abnormal / polycystic ovaries
- Male pseudohermaphrodism / lack of virilisation
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance



Very frequent
- Anaemia
- Cardiac rhythm disorder / arrhythmia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Pallor

Frequent
- Anomalies of hands
- Asthenia / fatigue / weakness
- Autosomal dominant inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Facial pain / cephalalgia / migraine
- Macrocytic anemia
- Structural anomalies of the genital system
- Structural anomalies of the kidney and the urinary tract

Occasional
- Acute leukemia
- Autosomal recessive inheritance
- Flattened nose
- Neoplasms / tumors
- Short stature / dwarfism / nanism
- Short / small nose
- Thick lips