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

APP HPGD
SLCO2A1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Pachydermoperiostosis
HPGD SLCO2A1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Pachydermoperiostosis

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- PDP
- Touraine-Solente-Gole 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 skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Autosomal dominant inheritance


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Pachydermoperiostosis

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



Very frequent
- Bone pain
- Bone tumefaction / swelling
- Cortical anomaly / thick bone cortical layer
- Epiphyseal anomaly
- Hyperhidrosis / increased sweating
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Seborrhea / hyperseborrhea / seborrheic dermatitis
- Thick skin / pachydermia / orange skin

Frequent
- Abnormal fingernails
- Acne / acnea
- Arthritis / synovitis / synovial proliferation
- Articular / joint pain / arthralgia
- Coarse face
- Cutaneous edema
- Decreased body hair / axillar / pubic hairlessness
- Hydrarthrosis / articular / joint effusion
- Osteolysis / osteoclasia / bone destruction / erosions
- Ptosis
- Restricted joint mobility / joint stiffness / ankylosis
- Terminal broadening / clubbing of toes
- Thick scalp / scalp dysplasia
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Abnormal implantation of hair
- Acromegaly
- Acute palsy
- Anaemia
- Bone marrow anomalies
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Follicular / erythematous / edematous papules / milium
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Genu varum
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hot flushes / sensation of cold
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Malabsorption / chronic diarrhea / steatorrhea
- Osteonecrosis / bone infarction
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Palmoplantar hyperkeratosis / keratoderma
- Scoliosis
- Skin tumors / lumps / epidermal cysts
- Small hand / acromicria
- Splenomegaly