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Entry Name Description Category Pathway
H00724 White sponge nevus White sponge nevus is a benign autosomal dominant disorder affecting non-cornifying stratified squamous epithelia with white spongy plaques in the mouth. Mutations in KRT4 and KRT13, which are expressed ... Congenital malformation
H00725 Short QT syndrome Short QT syndrome (SQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. The mutation of genes (KCNH2, KCNQ1, and KCNJ2) encoding for cardiac potassium channels plays a central ... Cardiovascular disease
H00726 Meesmann corneal dystrophy Meesmann corneal dystrophy is an early-onset disorder of the corneal epithelium caused by heterozygous mutations in KRT3 or KRT12 gene. It presents as ocular irritation but some patients may remain asymptomatic ... Nervous system disease
H00727 Athabascan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
Athabascan brainstem dysgenesis syndrome (ABDS) are HOXA1-related disorders marked by restricted ocular motility, sensorineural deafness, cerebrovascular malformations, and mental retardation. Cardiac ... Congenital malformation
H00728 Brugada syndrome The Brugada syndrome (BRS) is an autosomal dominant genetic disorder that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. Diagnosis is based ... Cardiovascular disease hsa04010 MAPK signaling pathway
hsa04020 Calcium signaling pathway
hsa04260 Cardiac muscle contraction
hsa04270 Vascular smooth muscle contraction
hsa05410 Hypertrophic cardiomyopathy
hsa05412 Arrhythmogenic right ventricular cardiomyopathy
hsa05414 Dilated cardiomyopathy
H00729 Sick sinus syndrome
Sinus node dysfunction
Sick sinus syndrome (SSS) comprises a variety of conditions involving sinus node dysfunction and commonly affects elderly persons. Patients may experience syncope, pre-syncope, palpitations, or dizziness ... Cardiovascular disease
H00730 Familial idiopathic ventricular fibrillation Idiopathic ventricular fibrillation (IVF) is a syndrome that causes sudden cardiac death in individuals with an apparently normal heart. It has been found a novel SCN5A missense mutation in one symptomatic ... Cardiovascular disease
H00731 Atrial fibrillation Atrial fibrillation (AF, ATFB) is the most common cardiac arrhythmia and is regarded generally as a sporadic, acquired disorder. Nevertheless, recent growing evidence points to an important heritable basis ... Cardiovascular disease hsa04270 Vascular smooth muscle contraction
hsa04261 Adrenergic signaling in cardiomyocytes
H00732 Sorsby fundus dystrophy Sorsby fundus dystrophy is an autosomal dominant disorder characterized by macular degeneration with bilateral central visual loss. The lesions progress into outer retina, resulting in further loss of ... Nervous system disease
H00733 Harlequin ichthyosis Harlequin ichthyosis (HI) is the most devastating form of congenital ichthyosis. The newborn with this disease show severe hyperkeratosis and scales with fissures over the whole body, pronounced ectropion ... Congenital malformation hsa02010 ABC transporters
H00734 Autosomal recessive congenital ichthyosis Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ... Congenital malformation
H00735 Ichthyosis vulgaris Ichthyosis vulgaris is one of the most common genetic keratinization disorder characterized by follicular keratosis and grey scaling on the flexor limbs. It is caused by defective synthesis of filaggrin ... Congenital malformation
H00736 Dorfman-Chanarin syndrome
Chanarin-Dorfman syndrome
Chanarin-Dorfman syndrome, also referred to as neutral-lipid-storage disease with ichthyosis, is a rare autosomal recessive disease of lipid metabolism. Cutaneous finding is congenital, generalized ichthyosis ... Congenital disorder of metabolism hsa04923 Regulation of lipolysis in adipocytes
H00737 Peeling skin syndrome Peeling skin syndrome (PSS) is a group of rare autosomal recessive disorders characterized by superficial detachment of the epidermal corneal layers. PSS can be divided into two main types, acral PSS (APSS) ... Congenital malformation
H00738 Ichthyosis with confetti
Congenital reticular ichthyosiform erythroderma
Ichthyosis variegata
Ichthyosis with confetti (IWC) is a rare and severe skin disease characterized by erythroderma, prominent scaling, and palmoplantar keratoderma. Patients develop numerous pale confetti-like white patches ... Congenital malformation
H00739 Ichthyosis with hypotrichosis Ichthyosis with hypotrichosis is a syndromic form of autosomal recessive congenital ichthyoses associated with abnormal hair. Sparse scalp hair, wrinkled skin, and corneal abnormalities are observed in ... Congenital malformation
H00740 Ichthyosis follicularis, alopecia, and photophobia syndrome Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genetic disorder characterized by congenital ichthyosis follicularis and noncicatricial universal alopecia. Photophobia ... Congenital malformation hsa04141 Protein processing in endoplasmic reticulum
H00741 Ichthyosis prematurity syndrome Ichthyosis prematurity syndrome is a form of syndromic congenital ichthyosis characterized by the premature birth, neonatal asphyxia, and epidermal cornification with desquamation. Patients with this disease ... Congenital malformation
H00742 Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC)
Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome is an autosomal recessive liver disease caused by mutations of Claudin-1, a tight-junction protein expressed in liver and skin. Patients present ... Congenital malformation hsa04514 Cell adhesion molecules
hsa04530 Tight junction
hsa04670 Leukocyte transendothelial migration
H00743 Paramyotonia congenita Paramyotonia congenita (PMC), which is also known as Eulenburg's disease, is an autosomal dominant inherited disease whose predominant feature is an episodic cold- or exercise-induced muscle myotonia in ... Nervous system disease; Musculoskeletal disease
H00744 Potassium-aggravated myotonia
Sodium channel myotonia
Potassium-aggravated myotonia (PAM), which is also known as sodium channel myotonia (SCM), is a group of pure myotonic disorders caused by mutations in the SCN4A gene. PAM includes three diseases with ... Nervous system disease; Musculoskeletal disease
H00745 Hyperkalemic periodic paralysis (HyperPP) The periodic paralyses are a group of autosomal-dominant disorders of skeletal muscle sodium, potassium, and calcium channel genes. They are characterized by episodes of muscle weakness associated with ... Nervous system disease; Musculoskeletal disease; Congenital disorder of metabolism
H00746 Hypokalemic periodic paralysis (HypoPP) Hypokalemic periodic paralysis (HypoPP) is a member of periodic paralyses, an autosomal dominant genetic disorders caused by mutations in the sodium, potassium, and calcium channel genes in skeletal muscle ... Nervous system disease; Musculoskeletal disease; Congenital disorder of metabolism hsa04010 MAPK signaling pathway
hsa04020 Calcium signaling pathway
hsa04260 Cardiac muscle contraction
hsa04270 Vascular smooth muscle contraction
hsa04725 Cholinergic synapse
hsa04727 GABAergic synapse
hsa04912 GnRH signaling pathway
H00747 Thyrotoxic hypokalemic periodic paralysis Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by thyrotoxicosis in combination with typical episodes of hypokalemic periodic paralysis (HypoPP). People of Asian descent are most often ... Nervous system disease; Musculoskeletal disease; Congenital disorder of metabolism
H00748 Andersen-Tawil syndrome Andersen-Tawil syndrome (ATS) is a distinct type of periodic paralysis characterized in its full form by a triad of cardiac abnormalities, distinctive facial and skeletal features, and periodic paralysis ... Nervous system disease; Musculoskeletal disease; Congenital disorder of metabolism hsa04725 Cholinergic synapse
H00749 Episodic ataxias Episodic ataxias (EAs) are a group of rare autosomal-dominant diseases characterized by recurrent, discrete episodes of ataxia, giddiness, and vertigo. EA1 and EA2 are the most widely recognized of the ... Nervous system disease hsa04010 MAPK signaling pathway
hsa04020 Calcium signaling pathway
hsa04721 Synaptic vesicle cycle
hsa04724 Glutamatergic synapse
hsa04725 Cholinergic synapse
hsa04727 GABAergic synapse
hsa04728 Dopaminergic synapse
hsa04730 Long-term depression
H00750 Keratosis follicularis spinulosa decalvans Keratosis follicularis spinulosa decalvans (KFSD) is a rare genodermatosis characterized by hyperkeratotic follicular papules with progressive alopecia of the scalp and photophobia. It is initially described ... Congenital malformation
H00751 Asphyxiating thoracic dystrophy
Jeune syndrome
Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare osteochondrodysplasia with characteristic skeletal abnormalities as well as the involvement of kidneys, liver, pancreas and ... Congenital malformation hsa04145 Phagosome
hsa04962 Vasopressin-regulated water reabsorption
H00752 Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (also known as Hay-Wells syndrome) and Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme ... Congenital malformation
H00753 Urofacial syndrome The urofacial syndrome (UFS) is an autosomal recessive disorder characterized by the combination of urological problems and distorted facial expression. Failure of the urinary bladder to void in patients ... Urinary system disease hsa00531 Glycosaminoglycan degradation
hsa01100 Metabolic pathways
H00754 3-Methylglutaconic aciduria 3-Methylglutaconic aciduria (MGCA) is a group of metabolic disorders characterized by increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. Nine distinct forms of MGCA have ... Inherited metabolic disease hsa00280 Valine, leucine and isoleucine degradation
H00755 Acrokeratosis verruciformis Acrokeratosis verruciformis is a rare autosomal dominant genodermatosis characterized by multiple planar wart-like lesions on the hands and feet. The lesions are usually present at birth. Mutations in ... Congenital malformation hsa04020 Calcium signaling pathway
H00756 Pitt-Hopkins syndrome Pitt-Hopkins Syndrome (PHS) is a rare disorder of severe mental retardation. Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular ... Congenital malformation hsa04514 Cell adhesion molecules
H00757 Dyggve-Melchior-Clausen disease and Smith-McCort dysplasia Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of spondylo-epi-metaphyseal dysplasia and mental retardation. The patients have a shortened ... Congenital malformation
H00758 Progressive pseudorheumatoid dysplasia
Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA)
Progressive pseudorheumatoid dysplasia (PPRD) is an inherited skeletal dysplasia in which the spine is affected as in spondyloepiphyseal dysplasia tarda. There is degeneration of articular cartilage that ... Congenital malformation
H00759 Waardenburg syndrome Waardenburg syndrome (WS) is a rare autosomal dominant inherited disorder characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. Four subtypes of WS have been ... Inherited metabolic disease; Albinism hsa04916 Melanogenesis
hsa04520 Adherens junction
hsa04020 Calcium signaling pathway
hsa04080 Neuroactive ligand-receptor interaction
hsa04916 Melanogenesis
H00760 Spondyloepiphyseal dysplasia tarda X-linked spondyloepiphyseal dysplasia tarda is a rare osteochondrodysplasia characterized by disproportionately short stature with short trunk. The symptoms of this condition appear later in childhood ... Congenital malformation
H00761 SEMD, Pakistani type
Brachyolmia type 4
Spondyloepimetaphyseal dysplasia (SEMD) Pakistani type, also known as brachyolmia type 4, is characterized by short, bowed lower limbs, mild brachydactyly, enlarged knee joints, and early-onset osteoarthropathy ... Congenital malformation hsa00230 Purine metabolism
hsa00450 Selenocompound metabolism
hsa00920 Sulfur metabolism
hsa01100 Metabolic pathways
H00762 Spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) is also known as SED Omani type. Knees, hip and elbow dislocations are common. Thoracic kyphoscoliosis develops in late childhood ... Congenital malformation hsa00532 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
H00763 Transient bullous dermolysis of the newborn Transient bullous dermolysis of the newborn is a rare disorder in which subepidermal blistering presents at birth. Tissue separation occurs below the lamina densa, due to abnormal intraepidermal accumulation ... Congenital malformation
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