Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
IMAGe syndrome
Multiple myeloma

CDKN1C CCND1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


IMAGe syndrome
CDKN1C
Multiple myeloma
CCND1



IMAGe syndrome
Multiple myeloma

Synonym(s):
- Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies

Synonym(s):
- Kahler's disease
- Medullary plasmacytoma
- Myelomatosis
- Plasma cell myeloma

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 neurologic 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:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D009101

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



Multiple myeloma

(no data available)