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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
47 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Adams-Oliver syndrome

CACNG2 ARHGAP31
CDH15 DOCK6
CTNNB1 EOGT
DOCK8 RBPJ
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DOCK8
(0.72)
DOCK6



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Adams-Oliver syndrome
ARHGAP31 DOCK6 EOGT RBPJ



Autosomal dominant nonsyndromic intellectual deficit
Adams-Oliver syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- AOS
- Congenital scalp defects with distal limb anomalies
- Congenital scalp defects with distal limb reduction anomalies
- Limb, scalp and skull defects

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
13 OMIM references -
No MeSH references
External references:
4 OMIM references -
1 MeSH reference: C538225

Adams-Oliver syndrome

Very frequent
- Autosomal dominant inheritance
- Cutis marmorata / marbled skin / livedo
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Foot absent / apodia / adactyly / acheiropodia
- Global upper and lower limbs anomalies
- Hand agenesis / absence
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Lower limb segmental anomalies
- Scalp / skull defect
- Skin hypoplasia / aplasia / atrophy
- Upper limb segmental anomalies

Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cataract / lens opacification
- Hydrocephaly
- Irregular length / shape of fingers
- Metacarpal anomalies / Archibald's sign
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Pulmonary valve atresia / stenosis / narrowing
- Short hand / brachydactyly
- Strabismus / squint
- Syndactyly of fingers / interdigital palm
- Talipes-varus / metatarsal varus
- Terminal / third phalangeal bone of fingers hypoplasia
- Tetralogy of Fallot / trilogy of Fallot
- Trident hand / split hand / abnormal median ray

Occasional
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Alopecia
- Ascitis
- Autosomal recessive inheritance
- Cirrhosis
- Congenital hepatic fibrosis
- EEG anomalies
- Encephalocele / exencephaly
- Esophageal varices
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Leukopenia / hypoleukocytosis
- Porencephaly
- Portal hypertension
- Prematurity
- Pulmonary hypertension
- Seizures / epilepsy / absences / spasms / status epilepticus
- Thrombocytopenia / thrombopenia
- Venous stenosis


Autosomal dominant nonsyndromic intellectual deficit

(no data available)