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Spondyloperipheral dysplasia - short ulna

1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

Cystic fibrosis

1 OMIM reference -
5 associated genes
9 signs/symptoms

Spondyloperipheral dysplasia - short ulna

Cystic fibrosis

COL2A1	(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)	COL2A1	(0.85)	TGFB1

Citations in the biomedical literature:

Spondyloperipheral dysplasia - short ulna		Cystic fibrosis
	Synonym(s): (no synonyms)		Synonym(s): - CF - Mucoviscidosis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory disease

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

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal 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 - 1 MeSH reference: C535799		External references: 1 OMIM reference - 1 MeSH reference: D003550

Spondyloperipheral dysplasia - short ulna		Cystic fibrosis
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Cone epiphyses / epiphysis - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Short hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Epiphyseal vertebral anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Pectus carinatum		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)