ODCs

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1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Parastremmatic dwarfism

Syndromic multisystem autoimmune disease due to Itch deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TRPV4	(0.82)	ITCH

Citations in the biomedical literature:

Parastremmatic dwarfism		Syndromic multisystem autoimmune disease due to Itch deficiency

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

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

	External references: 1 OMIM reference - 1 MeSH reference: C537172		External references: 1 OMIM reference - No MeSH references

Parastremmatic dwarfism
	Very frequent - Abnormal gait - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Genu valgum - Kyphosis - Lack / delayed ossification of spine / vertebrae - Metaphyseal anomaly - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Restricted joint mobility / joint stiffness / ankylosis - Rib structure anomalies - Rough trabeculation of bone - Scoliosis - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short neck - Short stature / dwarfism / nanism Frequent - Brachycephaly / flat occiput - Frontal bossing / prominent forehead - Genu varum - High forehead - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Pectus carinatum
Syndromic multisystem autoimmune disease due to Itch deficiency
(no data available)