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Entry Name Description Category Pathway Gene
H02388 Infantile-onset limb and orofacial dyskinesia Infantile-onset limb and orofacial dyskinesia (IOLOD) is a hyperkinetic movement disorder due to homozygous mutations in PDE10A, that encodes a dual cAMP-cGMP phosphodiesterase. PDE10A is enriched in the ... Nervous system disease (IOLOD) PDE10A [HSA:10846] [KO:K18438]
H02389 Familial dyskinesia with facial myokymia Familial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder characterized by paroxysmal chorea, dystonia, and facial myokymia. Missense mutations in ADCY5 were reported as the cause ... Nervous system disease ADCY5 [HSA:111] [KO:K08045]
H02401 Acanthamoebiasis ... with compromised immune systems. Acanthamoeba are widely distributed in the environment, including soil, water and air. Entry can occur through the eye, the nasal passages, or ulcerated or broken skin. Parasitic infectious disease
H02407 Trichostrongyliasis ... been reported in humans. Trichostrongylus colubriformis and T. orientalis were detected to be more frequent. Transmission is mainly by ingesting infective larvae or infrequently penetrating to the skin. Parasitic infectious disease
H02425 Erdheim-Chester disease ... are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. Recent studies have described that the etiology of ECD may be associated with the V600E BRAF mutation ... Cancer BRAF (mutation) [HSA:673] [KO:K04365]
MAP2K1 (mutation) [HSA:5604] [KO:K04368]
ARAF (mutation) [HSA:369] [KO:K08845]
MAP2K2 (mutation) [HSA:5605] [KO:K04369]
KRAS (mutation) [HSA:3845] [KO:K07827]
NRAS (mutation) [HSA:4893] [KO:K07828]
H02429 Actinic keratosis Actinic keratosis (AK) is a common cutaneous lesion associated with chronic exposure to ultraviolet (UV) radiation. AK presents scaly, erythematous papule or plaque and is considered the earliest clinically ... Skin disease
H02449 Autosomal dominant lamellar ichthyosis Autosomal dominant lamellar ichthyosis (ADLI) is a skin disorder caused by mutations in ASPRV1. Clinical and histologic features are similar to those of autosomal-recessive lamellar ichthyosis [DS:H00734] ... Congenital malformation ASPRV1 [HSA:151516] [KO:K24552]
H02453 Congenital heart defects and ectodermal dysplasia ... defects. Patients have extra-cardiac manifestations, including severe developmental delay, ectodermal (dry skin, teeth and nail defects) and limb abnormalities. CHDED individuals with de novo missense mutations ... Congenital malformation PRKD1 [HSA:5587] [KO:K06070]
H02456 Ectodermal dysplasia ... heterogeneous group of disorders characterized by a deficiency of ectodermally derived tissues, including hair, skin, teeth, and sweat glands. These conditions feature various combinations which demarcate the various ... Congenital malformation (ECTD14) TSPEAR [HSA:54084] [KO:K24437]
(EDFAOB) RHOA [HSA:387] [KO:K04513]
(CLPED1) NECTIN1 [HSA:5818] [KO:K06081]
H02467 Neonatal inflammatory skin and bowel disease Neonatal inflammatory skin and bowel disease (NISBD) is a rare autosomal recessive disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. A few gene mutations ... Immune system disease (NISBD1) ADAM17 [HSA:6868] [KO:K06059]
(NISBD2) EGFR [HSA:1956] [KO:K04361]
H02486 HELIX syndrome HELIX syndrome is characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. It has been reported that mutations in CLDN10 cause HELIX syndrome. Skin disease CLDN10 [HSA:9071] [KO:K06087]
H02500 Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa ... mediates signals between the cells and their microenvironment. Mutations in ITGA3 are associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. Congenital malformation ITGA3 [HSA:3675] [KO:K06482]
H02507 Pilarowski-Bjornsson syndrome Pilarowski-Bjornsson syndrome (PILBOS) is a neurodevelopmental disability characterized by autism, speech apraxia, developmental delay and facial dysmorphic features. It has been reported that missense ... Mental and behavioural disorder CHD1 [HSA:1105] [KO:K11367]
H02545 Hypertryptophanemia ... melatonin. It has been described that some patients had growth and developmental delay, ataxia, and photosensitive skin rash. Recently, HYPTRP due to tryptophan 2,3-dioxygenase deficiency has been reported. Inherited metabolic disorder (HYPTRP) TDO2 [HSA:6999] [KO:K00453]
H02559 Microvascular complications of diabetes ... vessels contribute to pathologic and functional changes in many tissues, including eye, heart, kidney, skin, and neuronal tissues. These changes are traditionally known as diabetic retinopathy, nephropathy ... Endocrine and metabolic disease (MVCD1) VEGFA [HSA:7422] [KO:K05448]
(MVCD2) EPO [HSA:2056] [KO:K05437]
(MVCD3) ACE [HSA:1636] [KO:K01283]
(MVCD4) IL1RN [HSA:3557] [KO:K05481]
(MVCD5) PON1 [HSA:5444] [KO:K01045]
(MVCD6) SOD2 [HSA:6648] [KO:K04564]
(MVCD7) HFE [HSA:3077] [KO:K26535]
H02614 Snijders Blok-Campeau syndrome ... characterized by intellectual disability, developmental delays, macrocephaly, impaired speech and language skills, and characteristic facial features. It has been reported that mutations in CHD3 cause this disease ... Congenital malformation CHD3 [HSA:1107] [KO:K11642]
H02627 Epidermal nevus
Sebaceous nevus 		Epidermal nevus is hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin. It is often present at birth or within the first few years of life. Congenital malformation NRAS [HSA:4893] [KO:K07828]
PIK3CA [HSA:5290] [KO:K00922]
FGFR3 [HSA:2261] [KO:K05094]
HRAS [HSA:3265] [KO:K02833]
H02648 Acantholytic blistering of the oral and laryngeal mucosa ... mucosa (ABOLM) is a rare disease characterized by recurrent erosions in a tongue and laryngeal mucosa. Skin, conjunctival and genital mucosa, hair, and nails are unaffected. It has been reported that mutations ... Digestive system disease DSG3 [HSA:1830] [KO:K07598]
H02665 Reticulate acropigmentation of Kitamura Reticulate acropigmentation of Kitamura (RAK) is a rare autosomal dominant disorder of cutaneous pigmentation. The typical clinical features are reticulate and sharply demarcated brown macules, affecting ... Skin disease ADAM10 [HSA:102] [KO:K06704]
H02683 Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities ... autosomal recessive cardio-cutaneous syndrome, characterized by dilated cardiomyopathy associated with mild skin, teeth, and hair abnormalities. It has been reported that mutations in PPP1R13L cause this disease ... Congenital malformation PPP1R13L [HSA:10848] [KO:K27356]
H02703 VISS syndrome VISS syndrome (vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity) is a syndromic connective tissue disorder caused by bi-allelic mutations in IPO8. Importin 8, encoded ... Congenital malformation IPO8 [HSA:10526] [KO:K18755]
H02724 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome ... sclerae, short stature) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility). Mutations in COL1A1 are involved in ... Congenital malformation (OIEDS1) COL1A1 [HSA:1277] [KO:K06236]
(OIEDS2) COL1A2 [HSA:1278] [KO:K06236]
H02730 Severe congenital liver disease ... loss-of-function mutations in FOCAD cause this disease. It has been suggested that FOCAD deficiency impairs the SKI mRNA surveillance pathway by reducing levels of the SKIC2 and SKIC3, two important components of ... Digestive system disease FOCAD [HSA:54914] [KO:K27498]
H02764 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies ... progressive sensorineural hearing loss, short stature, brachydactyly, a recognizable facial gestalt, premature skin aging and mild intellectual disability. EXOSC2 encodes a cap protein of the RNA exosome, the main ... Congenital malformation EXOSC2 [HSA:23404] [KO:K03679]
H02781 Ichthyosis with erythrokeratoderma ... It has been reported that KLK11 belongs to the kallikrein-related peptidase family associated with skin desquamation by degrading corneodesmosomes, which is essential for stratum corneum exfoliation. Congenital malformation KLK11 [HSA:11012] [KO:K09620]
241 to 265 of 265 Prev 1 2 3 4 5 6 7
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