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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
25 signs/symptoms
Generalized juvenile polyposis/juvenile polyposis coli
Isolated Klippel-Feil syndrome

BMPR1A GDF3
ENG GDF6
SMAD4 MEOX1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Generalized juvenile polyposis/juvenile polyposis coli
BMPR1A ENG SMAD4
Isolated Klippel-Feil syndrome
GDF3 GDF6 MEOX1



Generalized juvenile polyposis/juvenile polyposis coli
Isolated Klippel-Feil syndrome

Synonym(s):
(no synonyms)

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: unknown
Average age onset: variable
Average age of death: -
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


Generalized juvenile polyposis/juvenile polyposis coli

(no data available)