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Entry Name Description Category Pathway Gene
H00033 Adrenal carcinoma ... rearrangements of the chromosomal locus 11p15.5 associated with IGF II hyperexpression. Deletions of the ACTH receptor gene have recently been found in undifferentiated adenomas and in aggressive ACCs. Cancer ACTH-R (deletion) [HSA:4158] [KO:K04200]
GNAI2 (mutation) [HSA:2771] [KO:K04630]
N-ras (mutation) [HSA:4893] [KO:K07828]
IGF II (overexpression) [HSA:3481] [KO:K13769]
p53 (LOH, mutation) [HSA:7157] [KO:K04451]
p16/INK4A (LOH, low expression) [HSA:1028] [KO:K09993]
MEN1 (LOH, mutation) [HSA:4221] [KO:K14970]
H00039 Basal cell carcinoma ... 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 hedgehog signaling promotes ... Cancer hsa05217 Basal cell carcinoma (BCC1) SMO [HSA:6608] [KO:K06226]
(BCC1) PTCH1 [HSA:5727] [KO:K06225]
(BCC1) PTCH2 [HSA:8643] [KO:K11101]
(BCC1) RASA1 [HSA:5921] [KO:K04352]
(BCC7) TP53 [HSA:7157] [KO:K04451]
H00040 Squamous cell carcinoma ... world- wide. Approximately 200000 cases of SCC develop per year, causing about 2000 deaths. Unlike BCCs, which have no known precursor lesions, SCCs can emerge from actinic keratoses. As with BCC, risk ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
H-ras (mutation) [HSA:3265] [KO:K02833]
K-ras (mutation) [HSA:3845] [KO:K07827]
H00052 Clear cell sarcoma of soft tissue ... diseases and there are less than 8,700 new cases per year in the United States. Clear cell sarcoma (CCS), a highly malignant tumor of deep soft tissues is perhaps the rarest of these. CCS is characterized ... Cancer EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053]
H00055 Laryngeal cancer ... epidermal growth factor receptor amplification have been reported in one-third and one-quarter of LSCCs, respectively, both related to advanced stages, whereas c-myc could be amplified in 13% of cases ... 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]
H00865 Lethal congenital contractural syndrome Lethal congenital contractural syndrome (LCCS) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures with a severe form of arthrogryposis. LCCS is inherited ... Congenital malformation (LCCS1) GLE1 [HSA:2733] [KO:K18723]
(LCCS2) ERBB3 [HSA:2065] [KO:K05084]
(LCCS3) PIP5K1C [HSA:23396] [KO:K00889]
(LCCS4) MYBPC1 [HSA:4604] [KO:K12557]
(LCCS5) DNM2 [HSA:1785] [KO:K23484]
(LCCS6) ZBTB42 [HSA:100128927] [KO:K23196]
(LCCS7) CNTNAP1 [HSA:8506] [KO:K07379]
(LCCS8) ADCY6 [HSA:112] [KO:K08046]
(LCCS9) ADGRG6 [HSA:57211] [KO:K08463]
(LCCS10) NEK9 [HSA:91754] [KO:K20878]
(LCCS11) GLDN [HSA:342035] [KO:K16364]
H01559 Oropharyngeal cancer ... (>95%) includes squamous cell carcinomas of mucosal origin. Oropharyngeal squamous cell carcinomas (OPSCCs) are traditionally categorized as head and neck squamous cell carcinoma (HNSCC). High-risk human ... Cancer TP53 (mutation) [HSA:7157] [KO:K04451]
EGFR (amplification, overexpression) [HSA:1956] [KO:K04361]
H01572 Cole-Carpenter syndrome Cole-Carpenter syndrome (CCS) is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. CCS was ... Congenital malformation P4HB [HSA:5034] [KO:K09580]
SEC24D [HSA:9871] [KO:K14007]
H01596 Lambert-Eaton myasthenic syndrome ... therapy is the priority for these patients. As for the remaining cases, no antibodies to P/Q-type VGCCs have been found in 10-15% of patients with LEMS. The fact that these seronegative patients positively ... Immune system disease; Nervous system disease
H01874 Cronkhite-Canada syndrome Cronkhite-Canada syndrome (CCS) is a rare noninherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, and diarrhea. CCS is reported worldwide ... Digestive system disease
H01904 Microphthalmia with linear skin defects syndrome
Linear skin defects with multiple congenital anomalies
MIDAS syndrome 		... seizures, and cardiac anomalies. The clinical manifestations vary among affected individuals. Mutations in HCCS, COX7B, and NDUFB11, that encode crucial components of the mitochondrial respiratory chain (MRC) ... Congenital malformation (LSDMCA1) HCCS [HSA:3052] [KO:K01764]
(LSDMCA2) COX7B [HSA:1349] [KO:K02271]
(LSDMCA3) NDUFB11 [HSA:54539] [KO:K11351]
H02170 Microphthalmia, syndromic Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal ... Congenital malformation (MCOPS1) NAA10 [HSA:8260] [KO:K20791]
(MCOPS2) BCOR [HSA:54880] [KO:K23215]
(MCOPS3) SOX2 [HSA:6657] [KO:K16796]
(MCOPS5) OTX2 [HSA:5015] [KO:K18490]
(MCOPS6) BMP4 [HSA:652] [KO:K04662]
(MCOPS7) HCCS [HSA:3052] [KO:K01764]
(MCOPS9) STRA6 [HSA:64220] [KO:K23088]
(MCOPS11) VAX1 [HSA:11023] [KO:K09318]
(MCOPS12) RARB [HSA:5915] [KO:K08528]
(MCOPS13) HMGB3 [HSA:3149] [KO:K11296]
(MCOPS14) MAB21L2 [HSA:10586]
(MCOPS15) TENM3 [HSA:55714] [KO:K24473]
(MCOPS16) RAX [HSA:30062] [KO:K09332]
H02610 Head and neck squamous cell carcinoma ... infection is another implicated risk factor. Although lifestyle factors account for the majority of HNSCCs, genetic alterations will cause some individuals to be more sensitive to these environmental factors Cancer TNFRSF10B [HSA:8795] [KO:K04722]
ING1 [HSA:3621] [KO:K19197]
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