Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
16 signs/symptoms
Intellectual deficit, X-linked - psychosis - macroorchidism
Greenberg dysplasia

MECP2 LBR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MECP2
(0.79)
LBR



Citations in the biomedical literature:


Intellectual deficit, X-linked - psychosis - macroorchidism
MECP2
Greenberg dysplasia
LBR



Intellectual deficit, X-linked - psychosis - macroorchidism
Greenberg dysplasia

Synonym(s):
- Lindsay-Burn syndrome
- PPM-X

Synonym(s):
- Hydrops - ectopic calcification - motheaten
- Skeletal dysplasia, Greenberg type

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Mental and behavioural disorders -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537299

Intellectual deficit, X-linked - psychosis - macroorchidism
Greenberg dysplasia

Very frequent
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macroorchidism / macrotestes
- Movement disorder
- Psychic / behavioural troubles
- X-linked recessive inheritance

Frequent
- Abnormal gait
- EEG anomalies
- Long / large ear
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Psychic / psychomotor regression / dementia / intellectual decline
- Scoliosis
- Structural anomalies of the cardio-circulatory system


Very frequent
- Abnormal vertebral size / shape
- Abnormal / absent ossification
- Autosomal recessive inheritance
- Lymphedema
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Red cell disorders
- Rhizomelic micromelia
- Rib structure anomalies
- Short hand / brachydactyly
- Short stature / dwarfism / nanism

Frequent
- Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Narrow rib cage / thorax
- Poorly ossified skull / calvarium
- Scalp / skull defect