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14q12 microdeletion syndrome

1 associated gene
30 signs/symptoms

PROTEIN INTERACTIONS: 1

Autosomal dominant hypohidrotic ectodermal dysplasia

2 OMIM references -
3 associated genes
18 signs/symptoms

14q12 microdeletion syndrome

Autosomal dominant hypohidrotic ectodermal dysplasia

FOXG1	(UniProt - OMIM)		EDAR	(UniProt - OMIM)
			EDARADD	(UniProt - OMIM)
			TRAF6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FOXG1	(0.63)	TRAF6

Citations in the biomedical literature:

14q12 microdeletion syndrome		Autosomal dominant hypohidrotic ectodermal dysplasia
	Synonym(s): - Del(14)(q12) - Monosomy 14q12		Synonym(s): - AD-HED - Autosomal dominant anhidrotic ectodermal dysplasia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease

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

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

	External references: No OMIM references No MeSH references		External references: 2 OMIM references - No MeSH references

14q12 microdeletion syndrome		Autosomal dominant hypohidrotic ectodermal dysplasia
	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 - Seizures / epilepsy / absences / spasms / status epilepticus - Short / small nose		Very frequent - Anodontia / oligodontia / hypodontia - Anomalies of teeth and dentition - Autosomal dominant inheritance - Decreased body hair / axillar / pubic hairlessness - Dry / squaly skin / exfoliation - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Premature lost of decidious teeth - Thin skin - Tooth shape anomaly Frequent - Abnormal fingernails - Alveolysis / paraodontitis Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Eczema - Flattened nose - Frontal bossing / prominent forehead - Malignant hyperthermia - Thick lips