Health Conditions - Genetics Home Reference - e | E

Health Conditions - Genetics Home Reference

Health Conditions

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

• E-cadherin-associated hereditary gastric cancer, see hereditary diffuse gastric cancer
• E3 deficiency, see dihydrolipoamide dehydrogenase deficiency
• EA, see episodic ataxia
• EA/TEF, see esophageal atresia/tracheoesophageal fistula
• EAC, see multiple familial trichoepithelioma
• EAOH, see ataxia with oculomotor apraxia
• ear, patella, short stature syndrome, see Meier-Gorlin syndrome
• early fatal progressive hepatoencephalopathy, see combined oxidative phosphorylation deficiency 1
• early infantile epileptic encephalopathy 1
• early infantile epileptic encephalopathy 13, see SCN8A-related epilepsy with encephalopathy
• early infantile epileptic encephalopathy 14, see malignant migrating partial seizures of infancy
• early infantile epileptic encephalopathy 2, see CDKL5 deficiency disorder
• early infantile epileptic encephalopathy-1, see early infantile epileptic encephalopathy 1
• early-infantile epileptic encephalopathy 4, see STXBP1 encephalopathy with epilepsy
• early-onset ataxia with ocular motor apraxia and hypoalbuminemia, see ataxia with oculomotor apraxia
• Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency, see holocarboxylase synthetase deficiency
• Early-Onset Combined Carboxylase Deficiency, see holocarboxylase synthetase deficiency
• Early-onset generalized torsion dystonia, see early-onset primary dystonia
• early-onset glaucoma
• early-onset myopathy with fatal cardiomyopathy
• early-onset primary dystonia
• early-onset sarcoidosis, see Blau syndrome
• EB-PA, see epidermolysis bullosa with pyloric atresia
• EBS, see epidermolysis bullosa simplex
• ECCL, see encephalocraniocutaneous lipomatosis
• ECTD2, see Clouston syndrome
• ectodermal dysplasia 2, Clouston type, see Clouston syndrome
• ectodermal dysplasia, hypohidrotic, with immune deficiency, see anhidrotic ectodermal dysplasia with immune deficiency
• ectopia lentis, see isolated ectopia lentis
• ectopic ossification, see progressive osseous heteroplasia
• ectropion, inferior, with cleft lip and/or palate, see blepharocheilodontic syndrome
• eczema-thrombocytopenia-immunodeficiency syndrome, see Wiskott-Aldrich syndrome
• EDA-ID, see anhidrotic ectodermal dysplasia with immune deficiency
• EDM1, see multiple epiphyseal dysplasia
• EDM2, see multiple epiphyseal dysplasia
• EDM3, see multiple epiphyseal dysplasia
• EDM4, see multiple epiphyseal dysplasia
• EDM5, see multiple epiphyseal dysplasia
• EDMD, see Emery-Dreifuss muscular dystrophy
• EDS, see Ehlers-Danlos syndrome
• Edstrom myopathy, see hereditary myopathy with early respiratory failure
• Edwards syndrome, see trisomy 18
• EHK, see epidermolytic hyperkeratosis
• Ehlers Danlos disease, see Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome
• EIEE1, see early infantile epileptic encephalopathy 1
• EIEE13, see SCN8A-related epilepsy with encephalopathy
• EIEE14, see malignant migrating partial seizures of infancy
• EIEE4, see STXBP1 encephalopathy with epilepsy
• Ekbom syndrome, see restless legs syndrome
• Ekbom's syndrome, see restless legs syndrome
• EKV, see erythrokeratodermia variabilis et progressiva
• EKV-P, see erythrokeratodermia variabilis et progressiva
• EKVP, see erythrokeratodermia variabilis et progressiva
• electron transfer flavoprotein deficiency, see glutaric acidemia type II
• Elevated cholesterol, see hypercholesterolemia
• elevated serum CPK, see isolated hyperCKemia
• elevated serum creatine phosphokinase, see isolated hyperCKemia
• elfin facies syndrome, see Williams syndrome
• elfin facies with hypercalcemia, see Williams syndrome
• Ellis-van Creveld dysplasia, see Ellis-van Creveld syndrome
• Ellis-van Creveld syndrome
• Elschnig syndrome, see blepharocheilodontic syndrome
• EMA, see glutaric acidemia type II
• Emanuel syndrome
• Emery-Dreifuss muscular dystrophy
• Emery-Dreifuss syndrome, see Emery-Dreifuss muscular dystrophy
• encephalocraniocutaneous lipomatosis
• encephalofacial hemangiomatosis, see Sturge-Weber syndrome
• encephalofacial hemangiomatosis syndrome, see Sturge-Weber syndrome
• encephalopathy due to GLUT1 deficiency, see GLUT1 deficiency syndrome
• encephalopathy with basal ganglia calcification, see Aicardi-Goutières syndrome
• encephalopathy, petechiae, and ethylmalonic aciduria, see ethylmalonic encephalopathy
• enchondromatosis, see Ollier disease
• enchondromatosis with hemangiomata, see Maffucci syndrome
• enchondromatosis, multiple, Ollier type, see Ollier disease
• endocrine neoplasia, multiple, see multiple endocrine neoplasia
• endogenous hypertriglyceridaemia, see familial lipoprotein lipase deficiency
• Engelmann disease, see Camurati-Engelmann disease
• enlarged parietal foramina
• enteric neuropathy, see intestinal pseudo-obstruction
• enteritis, granulomatous, see Crohn disease
• enteritis, regional, see Crohn disease
• enterocyte cobalamin malabsorption, see Imerslund-Gräsbeck syndrome
• enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy, see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• entrapment neuropathy, see hereditary neuropathy with liability to pressure palsies
• EOMFC, see early-onset myopathy with fatal cardiomyopathy
• eosinophil peroxidase deficiency
• EPD, see pyridoxine-dependent epilepsy
• EPEMA syndrome, see ethylmalonic encephalopathy
• epidermal naevus, see epidermal nevus
• epidermal nevus
• Epidermolysis Bullosa Dystrophica, see dystrophic epidermolysis bullosa
• epidermolysis bullosa simplex
• epidermolysis bullosa with pyloric atresia
• Epidermolysis Bullosa, Dystrophic, see dystrophic epidermolysis bullosa
• Epidermolysis Bullosa, Junctional, see junctional epidermolysis bullosa
• epidermolytic hyperkeratosis
• epidermolytic ichthyosis, see epidermolytic hyperkeratosis
• epilepsy syndrome, infantile-onset symptomatic, see GM3 synthase deficiency
• Epilepsy, partial, with auditory features, see autosomal dominant partial epilepsy with auditory features
• epilepsy, progressive myoclonic 4, with or without renal failure, see action myoclonus–renal failure syndrome
• epilepsy, progressive myoclonic, Lafora, see Lafora progressive myoclonus epilepsy
• epilepsy, pyridoxine-dependent, see pyridoxine-dependent epilepsy
• epilepsy-aphasia spectrum
• epileptic encephalopathy, early infantile, 1, see early infantile epileptic encephalopathy 1
• epiloia, see tuberous sclerosis complex
• epimerase deficiency galactosemia, see galactosemia
• epiphyseal dysplasia, Fairbank type, see multiple epiphyseal dysplasia
• epiphyseal dysplasia, multiple, 1, see multiple epiphyseal dysplasia
• epiphyseal dysplasia, multiple, 2, see multiple epiphyseal dysplasia
• epiphyseal dysplasia, multiple, 3, see multiple epiphyseal dysplasia
• epiphyseal dysplasia, multiple, 4, see multiple epiphyseal dysplasia
• epiphyseal dysplasia, multiple, 5, see multiple epiphyseal dysplasia
• epiphyseal dysplasia, Ribbing type, see multiple epiphyseal dysplasia
• Episkopi blindness, see Norrie disease
• episodic ataxia
• episodic kinesigenic dyskinesia, see familial paroxysmal kinesigenic dyskinesia
• epithelioma adenoides cysticum of Brooke, see multiple familial trichoepithelioma
• EPM1, see Unverricht-Lundborg disease
• EPM1B, see PRICKLE1-related progressive myoclonus epilepsy with ataxia
• EPM4, see action myoclonus–renal failure syndrome
• Epstein-Barr virus-induced lymphoproliferative disease in males, see X-linked lymphoproliferative disease
• EPXD, see eosinophil peroxidase deficiency
• Erdheim-Chester disease
• Eronen syndrome, see DOORS syndrome
• erythermalgia, see erythromelalgia
• erythroblastic anemia, see beta thalassemia
• erythrogenesis imperfecta, see Diamond-Blackfan anemia
• Erythroid 5-aminolevulinate synthase deficiency, see X-linked sideroblastic anemia
• erythrokeratodermia variabilis, see erythrokeratodermia variabilis et progressiva
• erythrokeratodermia variabilis et progressiva
• erythrokeratodermia variabilis of Mendes da Costa, see erythrokeratodermia variabilis et progressiva
• erythrokeratodermia, progressive symmetric, see erythrokeratodermia variabilis et progressiva
• erythromelalgia
• Escobar syndrome, see multiple pterygium syndrome
• esophageal atresia/tracheoesophageal fistula
• essential benign pentosuria, see essential pentosuria
• essential blepharospasm, see benign essential blepharospasm
• essential pentosuria
• essential thrombocythemia
• essential thrombocytosis, see essential thrombocythemia
• essential tremor
• estrogen synthetase deficiency, see aromatase deficiency
• ETFA deficiency, see glutaric acidemia type II
• ETFB deficiency, see glutaric acidemia type II
• ETFDH deficiency, see glutaric acidemia type II
• ethylmalonic encephalopathy
• ethylmalonic-adipicaciduria, see glutaric acidemia type II
• ETL1, see autosomal dominant partial epilepsy with auditory features
• Eulenburg disease, see paramyotonia congenita
• Ewing family of tumors, see Ewing sarcoma
• Ewing sarcoma
• Ewing tumor, see Ewing sarcoma
• Ewing's sarcoma, see Ewing sarcoma
• Ewing's tumor, see Ewing sarcoma
• exercise-induced myopathy, see adenosine monophosphate deaminase deficiency
• exophthalmic goiter, see Graves disease
• exostoses, multiple hereditary, see hereditary multiple osteochondromas
• extrahepatic cholangiocarcinoma, see cholangiocarcinoma
• extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia, see Woodhouse-Sakati syndrome
• extreme insulin resistance with acanthosis nigricans, hirsutism and abnormal insulin receptors, see type A insulin resistance syndrome
• extrinsic asthma, see allergic asthma
• eyelid twitching, see benign essential blepharospasm