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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
36 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Acrodysostosis

CACNG2 PDE4D
CDH15 PRKAR1A
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DYRK1A
(0.72)
PRKAR1A



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Acrodysostosis
PDE4D PRKAR1A



Autosomal dominant nonsyndromic intellectual deficit
Acrodysostosis

Synonym(s):
(no synonyms)

Synonym(s):
- Acrodysplasia
- Arkless-Graham syndrome
- Maroteaux-Malamut syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic 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:
2 OMIM references -
1 MeSH reference: C538179

Acrodysostosis

Very frequent
- Abnormal vertebral size / shape
- Advanced bone age
- Broad nose / nasal bridge
- Cone epiphyses / epiphysis
- Depressed nasal bridge
- Flattened nose
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metacarpal anomalies / Archibald's sign
- Mid-facial hypoplasia / short / small midface
- Mouth held open
- Nails anomalies
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose

Frequent
- Anteverted nares / nostrils
- Brachycephaly / flat occiput
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Hearing loss / hypoacusia / deafness
- Hypertelorism
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Mesomelic micromelia
- Peripheral neuropathy
- Prognathism / prognathia
- Rachidian / spine canal stenosis
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Autosomal dominant inheritance
- Dental malocclusion
- Epicanthic folds
- Late puberty / hypogonadism / hypogenitalism
- Pigmented naevi / naevus pigmentosus / lentigo


Autosomal dominant nonsyndromic intellectual deficit

(no data available)