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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
2 associated genes
36 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Acrodysostosis

APP PDE4D
PRKAR1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
PDE4D



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Acrodysostosis
PDE4D PRKAR1A



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Acrodysostosis

Synonym(s):
- HCHWA, Arctic type

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

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic 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:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C538179


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Acrodysostosis

Very frequent
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



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
- Dental malocclusion
- Epicanthic folds
- Late puberty / hypogonadism / hypogenitalism
- Pigmented naevi / naevus pigmentosus / lentigo