ODCs

Cytoscape Web

Click node...

Opsismodysplasia

1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Propionic acidemia

1 OMIM reference -
2 associated genes
9 signs/symptoms

Opsismodysplasia

Propionic acidemia

INPPL1	(UniProt - OMIM)		PCCA	(UniProt - OMIM)
			PCCB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	INPPL1	(0.72)	PCCB

Citations in the biomedical literature:

Opsismodysplasia		Propionic acidemia
	Synonym(s): (no synonyms)		Synonym(s): - Ketotic hyperglycinemia - Propionic aciduria - Propionyl-CoA carboxylase deficiency

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537122		External references: 1 OMIM reference - 1 MeSH reference: D056693


COMMON SIGNS	- Hepatomegaly / liver enlargement (excluding storage disease)

Opsismodysplasia		Propionic acidemia
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - 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 - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - 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 - Aminoacid metabolism anomalies / aminoaciduria - Constipation - Hyperammonemia - Hypoglycemia Frequent - Cardiac rhythm disorder / arrhythmia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability Occasional - Cardiomyopathy / hypertrophic / dilated