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Opsismodysplasia

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 3
COMMON SIGNS: 3

Pachyonychia congenita

3 OMIM references -
4 associated genes
25 signs/symptoms

Opsismodysplasia

Pachyonychia congenita

INPPL1	(UniProt - OMIM)		KRT16	(UniProt - OMIM)
			KRT17	(UniProt - OMIM)
			KRT6A	(UniProt - OMIM)
			KRT6B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	INPPL1 INPPL1 INPPL1	(0.63) (0.63) (0.63)	KRT16 KRT17 KRT6B

Citations in the biomedical literature:

Opsismodysplasia		Pachyonychia congenita
	Synonym(s): (no synonyms)		Synonym(s): - PC

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537122		External references: 3 OMIM references - 1 MeSH reference: D053549


COMMON SIGNS	- Autosomal recessive inheritance - Hepatomegaly / liver enlargement (excluding storage disease) - Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Opsismodysplasia		Pachyonychia congenita
	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 - Narrow rib cage / thorax - Pectus excavatum - Restricted joint mobility / joint stiffness / ankylosis - Splenomegaly		Very frequent - Abnormal nails colour / leukonychia / melanonychia - Autosomal dominant inheritance - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Enanthema / aphtosa / aphta / leukoplakia - Hair and scalp anomalies - Hyperhidrosis / increased sweating - Nails anomalies - Palmoplantar hyperkeratosis / keratoderma Frequent - Absent / small fingernails / anonychia of hands - Anomalies of teeth and dentition - Ichthyosis / ichthyosiform dermatitis - Multiple caries - Skin tumors / lumps / epidermal cysts - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Abnormal fingernails - Alopecia - Cataract / lens opacification - Corneal dystrophy - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Laryngomalacia