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Pseudoachondroplasia

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Fibronectin glomerulopathy

2 OMIM references -
1 associated gene
10 signs/symptoms

Pseudoachondroplasia

Fibronectin glomerulopathy

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COMP	(0.52)	FN1

Citations in the biomedical literature:

Pseudoachondroplasia		Fibronectin glomerulopathy
	Synonym(s): - Pseudoachondroplastic dysplasia - Pseudoachondroplastic spondyloepiphyseal dysplasia		Synonym(s): - GFND - Glomerulopathy with fibronectin deposits

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the genitourinary system -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535819		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Pseudoachondroplasia		Fibronectin glomerulopathy
	Very frequent - Bowed diaphysis / diaphyses / long bones - Delayed bone age - Epiphyseal anomaly - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism - Wrist / carpal anomalies Frequent - Abnormal gait - Articular / joint pain / arthralgia - Hyperextensible joints / articular hyperlaxity - Lordosis - Osteoarthritis - Platyspondyly - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Short foot / brachydactyly of toes Occasional - Genu valgum - Genu varum - Kyphosis - Odontoid hypoplasia		Very frequent - Chronic arterial hypertension - Edema of the legs / lower limbs - Functional anomalies of the kidney and the urinary tract - Hematuria / microhematuria - Nephrotic syndrome - Proteinuria - Renal failure - Renal glomerular defect / glomerulopathy Occasional - Intracranial / cerebral / meningeal hemorrhage