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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
42 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Mesomelia-synostoses syndrome

APP SLCO5A1
SULF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
SULF1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Mesomelia-synostoses syndrome
SLCO5A1 SULF1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Mesomelia-synostoses syndrome

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- 8q13 microdeletion syndrome
- Del(8)q(13)
- Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type
- Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type
- Monosomy 8q13
- Verloes-David 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

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 dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Mesomelia-synostoses syndrome

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



Very frequent
- Anomalies of hands
- Carpal bones fusion / synostosis
- Clinodactyly of fifth finger
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Foot anomalies
- High vaulted / narrow palate
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Hypoplastic / aplastic uvula
- Mesomelic micromelia
- Metacarpal anomalies / Archibald's sign
- Micrognathia / retrognathia / micrognathism / retrognathism
- Ptosis
- Restricted joint mobility / joint stiffness / ankylosis
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Small foot
- Synostosis
- Tarsal anomaly / fusion / synostosis
- Telecanthus / canthal dystopy
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly
- Ulnar deviation of fingers
- Wrist / carpal anomalies

Frequent
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation

Occasional
- Ankle anomalies
- Beaked nose
- Congenital cardiac anomaly / malformation / cardiopathy
- Eyebrows anomalies
- Flat cheek bones / malar hypoplasia
- Genu valgum
- Hearing loss / hypoacusia / deafness
- Knee anomalies (excluding patella)
- Long philtrum
- Long / large / bulbous nose
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microstomia / little mouth
- Myopia
- Oral synechiae / abnormal frenulae
- Triangular face
- Umbilical hernia