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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
3 associated genes
33 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
X-linked intellectual deficit with marfanoid habitus

APP MED12
UPF3B
ZDHHC9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
MED12



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
X-linked intellectual deficit with marfanoid habitus
MED12 UPF3B ZDHHC9



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
X-linked intellectual deficit with marfanoid habitus

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- Lujan syndrome
- Lujan-Fryns syndrome
- X-linked mental retardation with marfanoid habitus
- XLMR with marfanoid habitus

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive

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


COMMON
SIGNS
- Psychic / behavioural troubles


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
X-linked intellectual deficit with marfanoid habitus

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



Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- High forehead
- High vaulted / narrow palate
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tall stature / gigantism / growth acceleration
- X-linked recessive inheritance

Frequent
- Atrial septal defect / interauricular communication
- Corpus callosum / septum pellucidum total / partial agenesis
- Flat cheek bones / malar hypoplasia
- High nasal bridge
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Long hand / arachnodactyly
- Macroorchidism / macrotestes
- Narrow face
- Pectus excavatum
- Short philtrum

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Brachycephaly / flat occiput
- Camptodactyly of some fingers
- Delirium / hallucination
- Low set ears / posteriorly rotated ears
- Prominent / bat ears
- Psychosis / schizophrenia / maniac disorder
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly