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14q12 microdeletion syndrome
1 associated gene
30 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Hereditary hemorrhagic telangiectasia
5 OMIM references -
4 associated genes
34 signs/symptoms
14q12 microdeletion syndrome
Hereditary hemorrhagic telangiectasia

FOXG1
(UniProt - OMIM)
 ACVRL1
(UniProt - OMIM)
ENG
(UniProt - OMIM)
GDF2
(UniProt - OMIM)
SMAD4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FOXG1
(0.52)
SMAD4


Citations in the biomedical literature:


14q12 microdeletion syndrome
FOXG1
Hereditary hemorrhagic telangiectasia
ACVRL1 ENG GDF2 SMAD4



14q12 microdeletion syndrome
Hereditary hemorrhagic telangiectasia

Synonym(s):
- Del(14)(q12)
- Monosomy 14q12
Synonym(s):
- HHT
- Rendu-Osler disease
- Rendu-Osler-Weber disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
5 OMIM references -
No MeSH references
COMMON
SIGNS 		- Seizures / epilepsy / absences / spasms / status epilepticus

14q12 microdeletion syndrome
Hereditary hemorrhagic telangiectasia

Very frequent
- Antihelix anomaly
- Depressed nasal bridge
- Epicanthic folds
- Everted lower lip
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Microcephaly
- Prominent / bat ears
- Psychic / psychomotor regression / dementia / intellectual decline
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tented upper lip
- Tics / stereotypias

Frequent
- Blepharophimosis / short palpebral fissures
- Corpus callosum / septum pellucidum total / partial agenesis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hyperkinesia / dyskinesia
- Hypersialorrhea
- Kyphosis
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Philtrum flat / large / featureless / absent cupidon bows
- Prognathism / prognathia
- Prominent metopic suture
- Puffy eyelids
- Scoliosis
- Short / small nose



Very frequent
- Autosomal dominant inheritance
- Epistaxis / nose bleeding
- Telangiectasiae of mucosae
- Telangiectasiae of the skin

Frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Cavernous / tuberous hemangioma
- Facial pain / cephalalgia / migraine
- Functional anomalies of the cardio-circulatory system
- Functional anomalies of the liver and the biliary tract
- Hematomas
- Microcytic anemia
- Portal hypertension
- Visceral angiomatosis (excluding skin)

Occasional
- Biliary / gallbladder stones / lithiasis / cholecystitis
- Cerebral vascular anomalies
- Cirrhosis
- Conjunctival telangiectasia
- Esophageal varices
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Heart / cardiac failure
- Hematuria / microhematuria
- Hemoptysis
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatocellular liver disease / hepatic failure
- Peripheral arteriovenous fistula
- Polyposis of the bowel / colon / intestine
- Pulmonary hypertension
- Pulmonary thromboembolism
- Retinal vascular anomalies / retinal telangiectasia
- Transient cerebral ischemia / stroke
- Urinary / renal lithiasis / kidney stones / nephritic colic
- Venous thrombosis / phlebitis / thrombophlebitis
- Visual loss / blindness / amblyopia