Cytoscape Web
Click node...

Intellectual deficit, X-linked, Siderius type
1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
Acute promyelocytic leukemia
1 OMIM reference -
7 associated genes
No signs/symptoms info
Intellectual deficit, X-linked, Siderius type
Acute promyelocytic leukemia

PHF8
(UniProt - OMIM)
 NABP1
(UniProt - OMIM)
NPM1
(UniProt - OMIM)
NUMA1
(UniProt - OMIM)
PML
(UniProt - OMIM)
RARA
(UniProt - OMIM)
STAT5B
(UniProt - OMIM)
ZBTB16
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PHF8
(0.83)
RARA


Citations in the biomedical literature:


Intellectual deficit, X-linked, Siderius type
PHF8
Acute promyelocytic leukemia
NABP1 NPM1 NUMA1 PML RARA STAT5B
ZBTB16



Intellectual deficit, X-linked, Siderius type
Acute promyelocytic leukemia

Synonym(s):
(no synonyms)

Synonym(s):
- Acute myeloblastic leukemia type 3
- Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C537333
External references:
1 OMIM reference -
1 MeSH reference: D015473
Intellectual deficit, X-linked, Siderius type

Very frequent
- Broad nose / nasal bridge
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large hand
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Long face
- X-linked dominant inheritance

Frequent
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Low hair line (back)
- Preaxial polydactyly (hand)
- Scoliosis
- Synophris / synophrys


Acute promyelocytic leukemia

(no data available)