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Pachydermoperiostosis

3 OMIM references -
2 associated genes
44 signs/symptoms

PROTEIN INTERACTIONS: 1

Hereditary cerebral hemorrhage with amyloidosis, Flemish type

1 OMIM reference -
1 associated gene
No signs/symptoms info

Pachydermoperiostosis

Hereditary cerebral hemorrhage with amyloidosis, Flemish type

HPGD	(UniProt - OMIM)		APP	(UniProt - OMIM)
SLCO2A1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Pachydermoperiostosis		Hereditary cerebral hemorrhage with amyloidosis, Flemish type
	Synonym(s): - PDP - Touraine-Solente-Gole syndrome		Synonym(s): - HCHWA, Flemish type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

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

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

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

Pachydermoperiostosis
	Very frequent - Autosomal dominant inheritance - 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
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
(no data available)