ODCs

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1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
25 signs/symptoms

Juvenile polyposis of infancy

Isolated Klippel-Feil syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPR1A	(0.75)	GDF6

Citations in the biomedical literature:

Juvenile polyposis of infancy		Isolated Klippel-Feil syndrome
	Synonym(s): - Infantile juvenile polyposis syndrome		Synonym(s): - Congenital cervical vertebral fusion - Congenital fused cervical segments - Klippel-Feil malformation - Klippel-Feil sequence

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

	Classification (ICD10): - Neoplasms -		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: before age 5 Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references

Isolated Klippel-Feil syndrome
	Very frequent - Anomalies of spine, vertebrae and pelvis - Autosomal dominant inheritance - Autosomal recessive inheritance - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Low hair line (back) - Short neck - Vertebral segmentation anomaly / hemivertebrae - Webbed neck / pterygium colli Frequent - Anomalies of the ribs - Congenital torticolli - Hearing loss / hypoacusia / deafness - Narrow / sloping shoulders - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Scoliosis Occasional - Agenesis / hypoplasia / aplasia of kidneys - Anus ectopia / anteposition / malposition - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Cranial nerve anomalies - Hemiplegia / diplegia / hemiparesia / limb palsy - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intellectual deficit / mental / psychomotor retardation / learning disability - Sacro-coccyx / sacrum anomaly - Spina bifida - Ventricular septal defect / interventricular communication
Juvenile polyposis of infancy
(no data available)