Cytoscape Web
Click node...


13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
29 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Watson syndrome

CACNG2 NF1
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GRIN1
DYNC1H1
(0.59)
(0.14)
NF1
NF1



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Watson syndrome
NF1



Autosomal dominant nonsyndromic intellectual deficit
Watson syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Pulmonic stenosis with 'cafe-au-lait' spots

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical cardiac disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

Watson syndrome

Very frequent
- Autosomal dominant inheritance
- Broad forehead
- Cafe-au-lait spot
- Cutaneous neurofibromas / facial angiofibromas / Koenen tumors
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Excess nuchal skin without pterygium colli
- Excessive freckling
- Hypertelorism
- Philtrum deeply grooved
- Philtrum flat / large / featureless / absent cupidon bows
- Ptosis
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Short neck
- Short stature / dwarfism / nanism

Frequent
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large ear
- Pectus excavatum
- Puffy eyelids
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Triangular face
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Hypotonia
- Kyphosis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia


Autosomal dominant nonsyndromic intellectual deficit

(no data available)