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Juvenile hyaline fibromatosis
1 OMIM reference -
1 associated gene
8 connected diseases
16 signs/symptoms
Disease Type of connection
Infantile systemic hyalinosis
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Cobblestone lissencephaly without muscular or ocular involvement
X-linked Alport syndrome
X-linked diffuse leiomyomatosis - Alport syndrome
Familial porencephaly
Synonym(s):
- Murray-Puretic-Drescher syndrome
- Puretic syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D057770
Gene symbol UniProt reference OMIM reference
ANTXR2 P58335608041
Very frequent
- Autosomal recessive inheritance
- Diaphyseal anomaly
- Face / facial anomalies
- Follicular / erythematous / edematous papules / milium
- Hair and scalp anomalies
- Skull / cranial anomalies
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Chronic skin infection / ulcerations / ulcers / cancrum
- Death in infancy
- Skin hypoplasia / aplasia / atrophy

Occasional
- Anus / rectum anomalies
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteolysis / osteoclasia / bone destruction / erosions
- Restricted joint mobility / joint stiffness / ankylosis
- Thickened / hypertrophic / fibromatous gingivae