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Isolated Klippel-Feil syndrome

3 OMIM references -
3 associated genes
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Fragile X syndrome

1 OMIM reference -
1 associated gene
27 signs/symptoms

Isolated Klippel-Feil syndrome

Fragile X syndrome

GDF3	(UniProt - OMIM)		FMR1	(UniProt - OMIM)
GDF6	(UniProt - OMIM)
MEOX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MEOX1	(0.63)	FMR1

Citations in the biomedical literature:

Isolated Klippel-Feil syndrome		Fragile X syndrome
	Synonym(s): - Congenital cervical vertebral fusion - Congenital fused cervical segments - Klippel-Feil malformation - Klippel-Feil sequence		Synonym(s): - FRAXA syndrome - FXS - FraX syndrome - Martin-Bell syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: normal Type of inheritance: x-linked dominant

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D005600


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Isolated Klippel-Feil syndrome		Fragile X 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 - Sacro-coccyx / sacrum anomaly - Spina bifida - Ventricular septal defect / interventricular communication		Very frequent - Chronic / relapsing otitis - Flat foot - Fragile chromosome X site - Hyperextensible joints / articular hyperlaxity - Macroorchidism / macrotestes - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - X-linked dominant inheritance Frequent - Frontal bossing / prominent forehead - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hyperactivity / attention deficit - Hypotonia - Long face - Macrocephaly / macrocrania / megalocephaly / megacephaly - Narrow face - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Prognathism / prognathia - Prominent / bat ears Occasional - Aortic root dilatation / dilation / aneurysm - Autism / autistic disoders - Auto-aggressivity / auto-mutilation - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Psychosis / schizophrenia / maniac disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint