ODCs

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Opsismodysplasia

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

1 OMIM reference -
2 associated genes
17 signs/symptoms

Opsismodysplasia

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

INPPL1	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
			KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	INPPL1 INPPL1	(0.63) (0.63)	KRT14 KRT5

Citations in the biomedical literature:

Opsismodysplasia		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	Synonym(s): (no synonyms)		Synonym(s): - Epidermolysis bullosa simplex, Koebner type - Epidermolysis bullosa simplex, KÃ¶bner type - Generalized EBS, non-Dowling-Meara type

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 1 OMIM reference - 1 MeSH reference: C537122		External references: 1 OMIM reference - 1 MeSH reference: C535961


COMMON SIGNS	- Autosomal recessive inheritance - Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Opsismodysplasia		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	Very frequent - Abnormal vertebral size / shape - Delayed bone age - Depressed nasal bridge - Epiphyseal anomaly - Frontal bossing / prominent forehead - Lack / delayed ossification of spine / vertebrae - Large fontanelle / delayed fontanelle closure - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rhizomelic micromelia - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - Tapered fingers Frequent - Brachycephaly / flat occiput - Hypotonia - Repeat respiratory infections Occasional - Blue sclerae - Broad / bifid thumb - Hepatomegaly / liver enlargement (excluding storage disease) - Narrow rib cage / thorax - Pectus excavatum - Restricted joint mobility / joint stiffness / ankylosis - Splenomegaly		Very frequent - Enanthema / aphtosa / aphta / leukoplakia - Mucosal / cutaneous hemorrhage - Muscle weakness / flaccidity - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Enamel anomaly - Follicular / erythematous / edematous papules / milium - Hyperhidrosis / increased sweating - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nails anomalies - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Palmoplantar hyperkeratosis / keratoderma - Ptosis - Respiratory rhythm disorder Occasional - Failure to thrive / difficulties for feeding in infancy / growth delay - Myasthenia