Cytoscape Web
Click node...

IMAGe syndrome
1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
B-cell chronic lymphocytic leukemia
6 OMIM references -
7 associated genes
No signs/symptoms info
IMAGe syndrome
B-cell chronic lymphocytic leukemia

CDKN1C
(UniProt - OMIM)
 ARL11
(UniProt - OMIM)
ATM
(UniProt - OMIM)
CCND1
(UniProt - OMIM)
IGHG1
(UniProt - OMIM)
IGHV3-21
()
POT1
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CDKN1C
(0.75)
CCND1


Citations in the biomedical literature:


IMAGe syndrome
CDKN1C
B-cell chronic lymphocytic leukemia
ARL11 ATM CCND1 IGHG1 IGHV3-21 POT1
TP53



IMAGe syndrome
B-cell chronic lymphocytic leukemia

Synonym(s):
- Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies
Synonym(s):
- B-CLL
- B-cell chronic lymphoid leukemia
- Lymphoplasmacytic leukemia
- Lymphoplasmacytoid immunocytoma
- Small lymphocytic lymphoma
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare urogenital disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
1 MeSH reference: D015451
IMAGe syndrome

Very frequent
- Adrenal glands anomalies
- Anomalies of bones / skeletal anomalies
- Autosomal recessive inheritance
- Depressed nasal bridge
- Frontal bossing / prominent forehead
- Hypospadias / epispadias / bent penis
- Hypotonia
- Intrauterine growth retardation
- Late puberty / hypogonadism / hypogenitalism
- Low set ears / posteriorly rotated ears
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Short limbs / micromelia / brachymelia
- Undescended / ectopic testes / cryptorchidia / unfixed testes



B-cell chronic lymphocytic leukemia

(no data available)