ODCs

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X-linked dominant chondrodysplasia, Chassaing-Lacombe type

1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 1

Cystic fibrosis

1 OMIM reference -
5 associated genes
9 signs/symptoms

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Cystic fibrosis

HDAC6	(UniProt - OMIM)	CFTR	(UniProt - OMIM)
		CLCA4	(UniProt)
		DCTN4	(UniProt - OMIM)
		STX1A	(UniProt - OMIM)
		TGFB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HDAC6	(0.79)	CFTR

Citations in the biomedical literature:

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Cystic fibrosis
	Synonym(s): - X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia		Synonym(s): - CF - Mucoviscidosis

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory disease

	Classification (ICD10): (no data available)		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: x-linked dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: young adult Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D003550

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Cystic fibrosis
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flattened nose - Frontal bossing / prominent forehead - Hydrocephaly - Low set ears / posteriorly rotated ears - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Rhizomelic micromelia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - X-linked dominant inheritance Frequent - Ankle anomalies - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Death in infancy - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Rib structure anomalies Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Short philtrum		Very frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Autosomal recessive inheritance - Immunodeficiency / increased susceptibility to infections / recurrent infections - Lung fibrosis - Malabsorption / chronic diarrhea / steatorrhea - Repeat respiratory infections - Structural anomalies of the liver and the biliary tract - Structural anomalies of the pancreas Occasional - Hepatomegaly / liver enlargement (excluding storage disease)