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Entry Name Description Category Pathway Gene
H00039 Basal cell carcinoma ... cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic ... Cancer hsa05217 Basal cell carcinoma SHH (germline, somatic mutation) [HSA:6469] [KO:K11988]
SMO (somatic mutation) [HSA:6608] [KO:K06226]
p53 (mutation) [HSA:7157] [KO:K04451]
PTCH (germline, somatic mutation) [HSA:5727] [KO:K06225]
H00055 Laryngeal cancer ... most common malignancies in Europe, with about 52,000 new cases per year, 90% of them occurring in men. Smoke and alcohol represent the major behavioral risk factors. Of all laryngeal cancers, some 95% are ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation, LOH, hypermethylation) [HSA:1029] [KO:K06621]
Cyclin D1 (amplification) [HSA:595] [KO:K04503]
EGFR (amplification) [HSA:1956] [KO:K04361]
c-MYC (amplification) [HSA:4609] [KO:K04377]
Cyclin E (amplification) [HSA:898 9134] [KO:K06626]
H00140 beta-Mannosidosis ... retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly Inherited metabolic disease; Lysosomal storage disease hsa00511 Other glycan degradation
hsa04142 Lysosome
MANBA; lysosomal beta-mannosidase [HSA:4126] [KO:K01192]
H00206 Mevalonate kinase deficiency ... biosynthesis of nonsterol isoprenes in addition to cholesterol. Patients of MVA show the symptoms, including dysmorphic features, cataracts, neurologic symptoms. The majority of patients with HIDS experience only ... Inherited metabolic disease; Immune system disease hsa00900 Terpenoid backbone biosynthesis MVK; mevalonate kinase [HSA:4598] [KO:K00869]
H00268 Lissencephaly Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia. Congenital malformation (LIS1/MDLS) PAFAH1B1 [HSA:5048] [KO:K16794]
(LIS2) RELN [HSA:5649] [KO:K06249]
(LIS3) TUBA1A [HSA:7846] [KO:K07374]
(LIS4) NDE1 [HSA:54820] [KO:K16738]
(LIS5) LAMB1 [HSA:3912] [KO:K05636]
(LIS6) KATNB1 [HSA:10300] [KO:K18643]
(LIS7) CDK5 [HSA:1020] [KO:K02090]
(LIS8) TMTC3 [HSA:160418] [KO:K23424]
(LISX1) DCX [HSA:1641] [KO:K16579]
(LISX2) ARX [HSA:170302] [KO:K09452]
(MDLS) YWHAE [HSA:7531] [KO:K06630]
H00293 Arrhythmogenic right ventricular cardiomyopathy ... ventricle. A number of genetic studies have identified mutations in various components of the cardiac desmosome that have important roles in the pathogenesis of ARVC. Disruption of desmosomal function by defective ... Cardiovascular disease hsa05412 Arrhythmogenic right ventricular cardiomyopathy JUP (mutation) [HSA:3728] [KO:K10056]
RYR2 (mutation) [HSA:6262] [KO:K04962]
DSP (mutation) [HSA:1832] [KO:K10381]
PKP2 (mutation) [HSA:5318] [KO:K12642]
TGF-beta 3 (mutation) [HSA:7043] [KO:K13377]
DSG2 (mutation) [HSA:1829] [KO:K07597]
DSC2 (mutation) [HSA:1824] [KO:K07601]
TMEM43 (mutation) [HSA:79188]
H00311 Legionellosis
Legionnaires disease
... Patients who are at risk for infection include the immunosuppressed, especially those submitted to transplantation (mainly of solid organs), those with chronic lung disease, smokers, and the elderly. Infectious disease hsa05134 Legionellosis
H00361 Malaria Malaria, the most common parasitic disease in the world, is caused by Plasmodium parasites that are transmitted by female Anopheline mosquitoes. Plasmodium infections result in a spectrum of clinical effects ... Infectious disease hsa05144 Malaria
H00435 Toxoplasmosis Toxoplasmosis is a worldwide infection caused by the intracellular parasite Toxoplasma gondii. The majority of horizontal transmissions to humans is caused either by the ingestion of tissue cysts in infected ... Infectious disease hsa05145 Toxoplasmosis
H00485 Robinow syndrome ... and urogenital characteristics may be present. In general, autosomal recessive RS (RRS) patients have more severe dysmorphology than autosomal dominant RS (DRS), especially in the musculoskeletal system. Congenital malformation hsa04310 Wnt signaling pathway (RRS) ROR2 [HSA:4920] [KO:K05123]
(DRS1) WNT5A [HSA:7474] [KO:K00444]
(DRS2) DVL1 [HSA:1855] [KO:K02353]
(DRS3) DVL3 [HSA:1857] [KO:K02353]
H00523 Noonan syndrome and related disorders ... genetically heterogeneous disorders that usually include postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders show considerable overlapping phenotypes ... Congenital malformation hsa04010 MAPK signaling pathway (NS1/LPRD1) PTPN11 [HSA:5781] [KO:K07293]
(NS3/CFC2) KRAS [HSA:3845] [KO:K07827]
(NS4) SOS1 [HSA:6654] [KO:K03099]
(NS5/LPRD2) RAF1 [HSA:369] [KO:K08845]
(NS6) NRAS [HSA:4893] [KO:K07828]
(NS7/LPRD3/CFC1) BRAF [HSA:673] [KO:K04365]
(NS8) RIT1 [HSA:6016] [KO:K07832]
(NS9) SOS2 [HSA:6655] [KO:K03099]
(NS10) LZTR1 [HSA:8216] [KO:K23330]
(CFC3) MAP2K1 [HSA:5604] [KO:K04368]
(CFC4) MAP2K2 [HSA:5605] [KO:K04369]
(CS) HRAS [HSA:3265] [KO:K02833]
(NFNS) NF1 [HSA:4763] [KO:K08052]
(NSLH1) SHOC2 [HSA:8036] [KO:K19613]
(NSLH2) PPP1CB [HSA:5500] [KO:K06269]
(CBL) CBL [HSA:867] [KO:K04707]
H00531 Venous malformations ... glomuvenous malformation are located on the extremities, usually nodular and associated with abnormal smooth muscle-like 'glomus cells'. Most cases are unifocal, with extensive venous malformations accounting ... Congenital malformation (sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121]
(glomuvenous) GLMN [HSA:11146] [KO:K23345]
H00548 Brunner syndrome
MAOA deficiency
Brunner syndrome is a form of X-linked non-dysmorphic mild mental retardation. It is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin ... Inherited metabolic disease; Mental retardation hsa00340 Histidine metabolism
hsa00350 Tyrosine metabolism
hsa00380 Tryptophan metabolism
hsa04728 Dopaminergic synapse
MAOA [HSA:4128] [KO:K00274]
H00582 Benign familial hematuria
Thin basement membrane nephropathy
Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function ... Urinary system disease hsa04510 Focal adhesion
hsa04512 ECM-receptor interaction
COL4A3 [HSA:1285] [KO:K06237]
COL4A4 [HSA:1286] [KO:K06237]
H00585 Epidermolysis bullosa, hemidesmosomal ... skin that readily blister. The conditions in which the blister formation occurs at the level of hemidesmosome are classified as hemidesmosomal variants, that is subtype of epidermolysis bullosa simplex. Congenital malformation PLEC1 [HSA:5339] [KO:K10388]
H00617 Desmosterolosis Desmosterolosis is a very rare disorder of cholesterol biosynthesis. Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are ... Congenital malformation hsa00100 Steroid biosynthesis
hsa01100 Metabolic pathways
DHCR24 [HSA:1718] [KO:K09828]
H00622 Hypoparathyroidism-retardation-dysmorphism syndrome
Sanjad-Sakati syndrome
Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia ... Congenital malformation TBCE [HSA:6905] [KO:K21768]
H00631 Cornelia de Lange syndrome Cornelia de Lange syndrome (CdLS) is a heterogeneous developmental disorder characterized by facial dysmorphia, upper limb defects, hirsutism, and gastrointestinal abnormalities. About 65% of patients harbor ... Congenital malformation hsa04110 Cell cycle
hsa04114 Oocyte meiosis
NIPBL [HSA:25836] [KO:K06672]
SMC1A [HSA:8243] [KO:K06636]
SMC3 [HSA:9126] [KO:K06669]
RAD21 [HSA:5885] [KO:K06670]
HDAC8 [HSA:55869] [KO:K11405]
H00644 Ectodermal dysplasia/skin fragility syndrome ... blisters and congenital ectodermal dysplasia. Progressive keratosis of the palms and soles is always seen in the patients. This conditon is caused by mutations in PKP1, a desmosomal plaque-associated protein. Congenital malformation PKP1 [HSA:5317] [KO:K10387]
H00646 Odontoonychodermal dysplasia Odontoonychodermal dysplasia is a rare autosomal recessive ectodermal dysplasia that presents dry hair, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma of palms and soles. Congenital malformation hsa04310 Wnt signaling pathway
hsa04340 Hedgehog signaling pathway
hsa04916 Melanogenesis
hsa05200 Pathways in cancer
WNT10A (nonsense mutation) [HSA:80326] [KO:K01357]
H00658 Syndromic X-linked mental retardation ... non-syndromic forms, depending on whether further abnormalities are found or not. Syndromic XLMR is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic abnormalities. Mental and behavioural disorder hsa04120 Ubiquitin mediated proteolysis (MRXST) HUWE1 [HSA:10075] [KO:K10592]
(MRXSSD) PHF8 [HSA:23133] [KO:K19415]
(MRXSC) CUL4B [HSA:8450] [KO:K10609]
(MRXSR) ZDHHC9 [HSA:51114] [KO:K16675]
(MRXSH) ATP6AP2 [HSA:10159] [KO:K19514]
(MRXSCJ) KDM5C [HSA:8242] [KO:K11446]
(MRXSW) GRIA3 [HSA:2892] [KO:K05199]
(MRXSB) HNRNPH2 [HSA:3188] [KO:K12898]
(MRXSHG) CNKSR2 [HSA:22866] [KO:K17536]
(MRXSN) UBE2A [HSA:7319] [KO:K10573]
(FRAXE) AFF2 [HSA:2334] [KO:K15194]
(MRGH) SOX3 [HSA:6658] [KO:K09267]
(MRX60) OPHN1 [HSA:4983] [KO:K20650]
(MRXS11) RBMX [HSA:27316] [KO:K12885]
(MRXS13) MECP2 [HSA:4204] [KO:K11588]
(MRXS14) UPF3B [HSA:65109] [KO:K14328]
(MRXS32) CLIC2 [HSA:1193] [KO:K05022]
(MRXS33) TAF1 [HSA:6872] [KO:K03125]
(MRXS34) NONO [HSA:4841] [KO:K13214]
H00665 Mandibuloacral dysplasia ... and partial lipodystrophy. Affected individuals have a normal appearance at birth, then progressively develop dysmorphic skeletal features. Mutations in LMNA or ZMPSTE24 are responsible for the disorder. Congenital malformation (type A) LMNA [HSA:4000] [KO:K12641]
(type B) ZMPSTE24 [HSA:10269] [KO:K06013]
H00709 Birk Barel mental retardation syndrome (BBMRS)
Birk-Barel syndrome (BIBAS)
... retardation syndrome (BBMRS) is characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. The potassium channel KCNK9 gene, which is responsible for the disease, was found to be imprinted Congenital malformation KCNK9 [HSA:51305] [KO:K04919]
H00717 Striate palmoplantar keratoderma ... fingers and on the palm as well as by focal hyperkeratosis on the soles. SPPK is a heterogenous group of disorders caused by mutations in either desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1). Congenital malformation (type I) DSG1 [HSA:1828] [KO:K07596]
(type II) DSP [HSA:1832] [KO:K10381]
(type III) KRT1 [HSA:3848] [KO:K07605]
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
(BRS1) SCN5A [HSA:6331] [KO:K04838]
(BRS2) GPD1L [HSA:23171] [KO:K00006]
(BRS3) CACNA1C [HSA:775] [KO:K04850]
(BRS4) CACNB2 [HSA:783] [KO:K04863]
(BRS5) SCN1B [HSA:6324] [KO:K04845]
(BRS6) KCNE3 [HSA:10008] [KO:K04897]
(BRS7) SCN3B [HSA:55800] [KO:K04847]
(BRS8) HCN4 [HSA:10021] [KO:K04957]
(BRS9) KCND3 [HSA:3752] [KO:K04893]
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
(ATFB3) KCNQ1 [HSA:3784] [KO:K04926]
(ATFB4) KCNE2 [HSA:9992] [KO:K04896]
(ATFB6) NPPA [HSA:4878] [KO:K12334]
(ATFB7) KCNA5 [HSA:3741] [KO:K04878]
(ATFB9) KCNJ2 [HSA:3759] [KO:K04996]
(ATFB10) SCN5A [HSA:6331] [KO:K04838]
(ATFB11) GJA5 [HSA:2702] [KO:K07614]
(ATFB12) ABCC9 [HSA:10060] [KO:K05033]
(ATFB13) SCN1B [HSA:6324] [KO:K04845]
(ATFB14) SCN2B [HSA:6327] [KO:K04846]
(ATFB15) NUP155 [HSA:9631] [KO:K14312]
(ATFB16) SCN3B [HSA:55800] [KO:K04847]
(ATFB17) SCN4B [HSA:6330] [KO:K04848]
(ATFB18) MYL4 [HSA:4635] [KO:K12750]
H00737 Peeling skin syndrome ... Generalized PSS can be further divided into the non-inflammatory (type A) and the inflammatory (type B) forms. Recently, it was found that mutations in the corneodesmosin gene (CDSN) underlie PSS type B. Congenital malformation CDSN [HSA:1041] [KO:K23457]
TGM5 [HSA:9333] [KO:K05622]
CHST8 [HSA:64377] [KO:K09672]
CSTA [HSA:1475] [KO:K13907]
SERPINB8 [HSA:5271] [KO:K13965]
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
(HypoPP1) CACNA1S [HSA:779] [KO:K04857]
(HypoPP2) SCN4A [HSA:6329] [KO:K04837]
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 (Pitt-Hopkins) TCF4 [HSA:6925] [KO:K15603]
(Pitt-Hopkins-like) CNTNAP2 [HSA:26047] [KO:K07380]
(Pitt-Hopkins-like) NRXN1 [HSA:9378] [KO:K07377]
H00782 Hypotrichosis and recurrent skin vesicles ... recurrent skin vesicles is a condition with sparse and fragile hair on scalp and vesicles on the skin over the body. Desmocollin 3, a transmembrane component of desmosomes, is associated with the disease. Skin disease DSC3 [HSA:1825] [KO:K07602]
H00799 CEDNIK syndrome
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
... system and the epidermis. Clinical manifestations include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantar keratoderma, and ichthyosis. Decreased expression of SNAP29, a member of the ... Congenital malformation hsa04130 SNARE interactions in vesicular transport SNAP29 [HSA:9342] [KO:K08509]
H00801 Familial thoracic aortic aneurysm and dissection
Aortic aneurysm familial thoracic type (AAT)
Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. While majority of the cases are sporadic, more than 20% are inherited as a single ... Cardiovascular disease hsa04270 Vascular smooth muscle contraction
hsa04010 MAPK signaling pathway
hsa04020 Calcium signaling pathway
hsa04060 Cytokine-cytokine receptor interaction
hsa04350 TGF-beta signaling pathway
hsa04510 Focal adhesion
hsa04520 Adherens junction
hsa04530 Tight junction
hsa04810 Regulation of actin cytoskeleton
(AAT3) TGFBR2 [HSA:7048] [KO:K04388]
(AAT4) MYH11 [HSA:4629] [KO:K10352]
(AAT5) TGFBR1 [HSA:7046] [KO:K04674]
(AAT6) ACTA2 [HSA:59] [KO:K12313]
(AAT7) MYLK [HSA:4638] [KO:K00907]
(AAT8) PRKG1 [HSA:5592] [KO:K07376]
(AAT9) MFAP5 [HSA:8076]
(AAT10) LOX [HSA:4015] [KO:K00277]
(AAT11) FOXE3 [HSA:2301] [KO:K09398]
H00844 Familial benign chronic pemphigus
Hailey-Hailey disease
... cases, positive family history is detected. Mutations in ATP2C1 that encodes a secretory pathway Ca2+/Mn2+-ATPase in the Golgi apparatus impair desmosomal keratinocyte adhesion in Hailey-Hailey disease. Congenital malformation ATP2C1 [HSA:27032] [KO:K01537]
H00860 Benign hereditary chorea ... respiratory problems. Features supporting this diagnosis include normal general examination with no dysmorphic features, broadly normal intellectual development with no regression or loss of cognitive skills ... Nervous system disease hsa04918 Thyroid hormone synthesis TTF1 [HSA:7270] [KO:K15225]
H00873 Cousin syndrome
Pelviscapular dysplasia
... scapular and pelvic hypoplasia along with epiphyseal abnormalities, congenital dwarfism, and facial dysmorphy including cranial, cervical, and auricular malformations. Cousin syndrome is linked to TBX15 ... Congenital malformation TBX15 [HSA:6913] [KO:K10182]
H00893 Skin fragility-woolly hair syndrome Skin fragility-woolly hair syndrome is a rare autosomal recessive genodermatosis caused by defective desmoplakin, an important desmosomal plaque protein. Patients with skin fragility-woolly hair syndrome ... Congenital malformation DSP [HSA:1832] [KO:K10381]
H00894 FG syndrome
Opitz-Kaveggia syndrome
... relative macrocephaly (as compared to height and weight), anal anomalies or severe constipation, and dysmorphic facial features. Five loci have so far been linked to this phenotype on the X chromosome. A ... Congenital malformation hsa04010 MAPK signaling pathway
hsa04510 Focal adhesion
hsa04530 Tight junction
(FGS1) MED12 [HSA:9968] [KO:K15162]
(FGS2) FLNA [HSA:2316] [KO:K04437]
(FGS4) CASK [HSA:8573] [KO:K06103]
H00896 Lymphangioleiomyomatosis Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of the lung ... Cancer; Cardiovascular disease; Immune system disease hsa04115 p53 signaling pathway
hsa04150 mTOR signaling pathway
hsa04910 Insulin signaling pathway
TSC1 [HSA:7248] [KO:K07206]
TSC2 [HSA:7249] [KO:K07207]
H00914 Warsaw breakage syndrome ... syndrome (sister chromatid cohesion defects) coexist, and individuals with this disorder show severe microcephaly, facial dysmorphy, pre- and post- natal growth retardation, and abnormal skin pigmentation. Congenital malformation DDX11 [HSA:1663] [KO:K11273]
H00926 Growth retardation, developmental delay, coarse facies, and early death ... retardation, microcephaly, severe psychomotor delay, functional brain deficits, and characteristic facial dysmorphism. Death within 30 months after birth occurs due to intercurrent infection or unidentified cause ... Congenital malformation FTO [HSA:79068] [KO:K19469]
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