ODCs

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Isolated Klippel-Feil syndrome

3 OMIM references -
3 associated genes
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

1 OMIM reference -
1 associated gene
13 signs/symptoms

Isolated Klippel-Feil syndrome

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

GDF3	(UniProt - OMIM)	APP	(UniProt - OMIM)
GDF6	(UniProt - OMIM)
MEOX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MEOX1	(0.56)	APP

Citations in the biomedical literature:

Isolated Klippel-Feil syndrome		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Synonym(s): - Congenital cervical vertebral fusion - Congenital fused cervical segments - Klippel-Feil malformation - Klippel-Feil sequence		Synonym(s): - HCHWA, Piedmont type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

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


COMMON SIGNS	- Autosomal dominant inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability

Isolated Klippel-Feil syndrome		Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
	Very frequent - Anomalies of spine, vertebrae and pelvis - 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 - Sacro-coccyx / sacrum anomaly - Spina bifida - Ventricular septal defect / interventricular communication		Very frequent - Intracranial / cerebral / meningeal hemorrhage - Motor deficit / trouble - Obnubilation / coma / lethargia / desorientation - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Psychic / psychomotor regression / dementia / intellectual decline - Sensitive trouble / deficit - Transient cerebral ischemia / stroke Frequent - Cerebral vascular anomalies - Facial pain / cephalalgia / migraine - Psychic / behavioural troubles Occasional - Early death / lethality