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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 2
5 OMIM references -
5 associated genes
35 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ear-patella-short stature syndrome

APP CDC6
CDT1
ORC1
ORC4
ORC6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
APP
(0.56)
(0.56)
ORC4
ORC6



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Ear-patella-short stature syndrome
CDC6 CDT1 ORC1 ORC4 ORC6



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ear-patella-short stature syndrome

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Meier-Gorlin 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 neurologic disease

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

Epidemiological data:
(no data available)
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:
5 OMIM references -
1 MeSH reference: C538012

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ear-patella-short stature syndrome

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



Very frequent
- Autosomal recessive inheritance
- Delayed bone age
- Epiphyseal anomaly
- External auditory canal atresia / stenosis / agenesis
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic mandibula / partial absence of the mandibula
- Intrauterine growth retardation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Camptodactyly of fingers
- Clavicle absent / abnormal
- Clinodactyly of fifth finger
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Craniostenosis / craniosynostosis / sutural synostosis
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- High vaulted / narrow palate
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Low set ears / posteriorly rotated ears
- Patella absent / abnormal (excluding luxation)
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rib structure anomalies

Occasional
- Breast tissue / mammary gland absence / aplasia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Elbow dislocation
- Hearing loss / hypoacusia / deafness
- Hypospadias / epispadias / bent penis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micropenis / small penis / agenesis
- Thick lips