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Entry Name Description Category Pathway Gene
H00527 Retinitis pigmentosa Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) ... Nervous system disease (RP1) RP1 [HSA:6101] [KO:K19538]
(RP2) RP2 [HSA:6102] [KO:K18272]
(RP3/RP15) RPGR [HSA:6103] [KO:K19607]
(RP4) RHO [HSA:6010] [KO:K04250]
(RP7) PRPH2 [HSA:5961] [KO:K17343]
(RP7) ROM1 [HSA:6094] [KO:K17344]
(RP9) RP9 [HSA:6100] [KO:K19604]
(RP10) IMPDH1 [HSA:3614] [KO:K00088]
(RP11) PRPF31 [HSA:26121] [KO:K12844]
(RP12) CRB1 [HSA:23418] [KO:K16681]
(RP13) PRPF8 [HSA:10594] [KO:K12856]
(RP14) TULP1 [HSA:7287] [KO:K19600]
(RP17) CA4 [HSA:762] [KO:K18246]
(RP18) PRPF3 [HSA:9129] [KO:K12843]
(RP19) ABCA4 [HSA:24] [KO:K05644]
(RP20/87) RPE65 [HSA:6121] [KO:K11158]
(RP23) OFD1 [HSA:8481] [KO:K16480]
(RP25) EYS [HSA:346007] [KO:K19601]
(RP26) CERKL [HSA:375298] [KO:K19602]
(RP27) NRL [HSA:4901] [KO:K09038]
(RP28) FAM161A [HSA:84140] [KO:K16772]
(RP30) FSCN2 [HSA:25794] [KO:K17455]
(RP31) TOPORS [HSA:10210] [KO:K10631]
(RP32) CLCC1 [HSA:23155] [KO:K22188]
(RP33) SNRNP200 [HSA:23020] [KO:K12854]
(RP35) SEMA4A [HSA:64218] [KO:K06521]
(RP36) PRCD [HSA:768206] [KO:K19637]
(RP37) NR2E3 [HSA:10002] [KO:K08546]
(RP38) MERTK [HSA:10461] [KO:K05117]
(RP39) USH2A [HSA:7399] [KO:K19636]
(RP40) PDE6B [HSA:5158] [KO:K13756]
(RP41) PROM1 [HSA:8842] [KO:K06532]
(RP42) KLHL7 [HSA:55975] [KO:K10445]
(RP43) PDE6A [HSA:5145] [KO:K08718]
(RP44) RGR [HSA:5995] [KO:K04254]
(RP45) CNGB1 [HSA:1258] [KO:K04952]
(RP46) IDH3B [HSA:3420] [KO:K00030]
(RP47/RP96) SAG [HSA:6295] [KO:K19627]
(RP48) GUCA1B [HSA:2979] [KO:K08328]
(RP49) CNGA1 [HSA:1259] [KO:K04948]
(RP50) BEST1 [HSA:7439] [KO:K13878]
(RP54) PCARE [HSA:388939] [KO:K24165]
(RP55) ARL6 [HSA:84100] [KO:K07951]
(RP56) IMPG2 [HSA:50939] [KO:K19017]
(RP57) PDE6G [HSA:5148] [KO:K13759]
(RP58) ZNF513 [HSA:130557] [KO:K24373]
(RP59) DHDDS [HSA:79947] [KO:K11778]
(RP60) PRPF6 [HSA:24148] [KO:K12855]
(RP61) CLRN1 [HSA:7401] [KO:K23841]
(RP62) MAK [HSA:4117] [KO:K08829]
(RP64) CFAP418 [HSA:157657] [KO:K25226]
(RP66) RBP3 [HSA:5949] [KO:K23911]
(RP67) NEK2 [HSA:4751] [KO:K20872]
(RP68) SLC7A14 [HSA:57709] [KO:K13871]
(RP69) KIZ [HSA:55857] [KO:K16539]
(RP70) PRPF4 [HSA:9128] [KO:K12662]
(RP71) IFT172 [HSA:26160] [KO:K19676]
(RP72) ZNF408 [HSA:79797] [KO:K24372]
(RP73) HGSNAT [HSA:138050] [KO:K10532]
(RP74) BBS2 [HSA:583] [KO:K16747]
(RP75) AGBL5 [HSA:60509] [KO:K23438]
(RP76) POMGNT1 [HSA:55624] [KO:K09666]
(RP77) REEP6 [HSA:92840] [KO:K17279]
(RP78) ARHGEF18 [HSA:23370] [KO:K21066]
(RP79) HK1 [HSA:3098] [KO:K00844]
(RP80) IFT140 [HSA:9742] [KO:K19672]
(RP81) IFT43 [HSA:112752] [KO:K19675]
(RP82) ARL2BP [HSA:23568] [KO:K16742]
(RP83) ARL3 [HSA:403] [KO:K07944]
(RP84) DHX38 [HSA:9785] [KO:K12815]
(RP85) AHR [HSA:196] [KO:K09093]
(RP86) RP86 [HSA:57670]
(RP88) RP1L1 [HSA:94137] [KO:K19538]
(RP89) KIF3B [HSA:9371] [KO:K20196]
(RP90) IDH3A [HSA:3419] [KO:K00030]
(RP91) IMPG1 [HSA:3617] [KO:K19016]
(RP92) HKDC1 [HSA:80201] [KO:K00844]
(RP93) CC2D2A [HSA:57545] [KO:K19352]
(RP94) SPATA7 [HSA:55812] [KO:K19655]
(RP95) RAX2 [HSA:84839] [KO:K09333]
(RP97) VWA8 [HSA:23078] [KO:K24512]
(Bothnia retinal dystrophy) RLBP1 [HSA:6017] [KO:K19625]
H00532 Parkes Weber syndrome ... vascular stain with multiple underlying subcutaneous and intramuscular arteriovenous fistulas (AVF), and overgrowth of the affected extremity. It has been reported that PWS is caused by RASA1 mutations. Congenital malformation RASA1 [HSA:5921] [KO:K04352]
H00713 Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. It is associated with genetic or epigenetic abnormalities in ... Congenital malformation CDKN1C [HSA:1028] [KO:K09993]
IGF2 [HSA:3481] [KO:K13769]
KCNQ1 [HSA:3784] [KO:K04926]
H00718 Sotos syndrome Overgrowth syndromes are a heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome ... Congenital malformation (SOTOS1) NSD1 [HSA:64324] [KO:K15588]
(SOTOS2) NFIX [HSA:4784] [KO:K09171]
(SOTOS3) APC2 [HSA:10297] [KO:K02085]
H00980 Nevo syndrome Nevo syndrome is a rare autosomal recessive disorder characterized by perinatal overgrowth, joint laxity, kyphosis, muscular hypotonia, wrist drop, spindle shaped fingers, and volar edema. Congenital malformation PLOD [HSA:5351] [KO:K00473]
H01215 Simpson-Golabi-Behmel syndrome Simpson Golabi Behmel syndrome (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and skeletal abnormalities as well as an increased risk ... Congenital malformation (SGBS1) GPC3 [HSA:2719] [KO:K08109]
(SGBS2) OFD1 [HSA:8481] [KO:K16480]
H01234 Trimethylaminuria
Fish-odor syndrome 		... major site of activity of the FMO3 enzyme) and chronic renal disease (as a consequence of bacterial overgrowth in the gut), and in patients treated with large doses of betaine or possibly L-carnitine. In ... Inherited metabolic disorder FMO3 [HSA:2328] [KO:K00485]
H01250 Hereditary gingival fibromatosis Hereditary gingival fibromatosis (GINGF) is a rare autosomal dominant overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular ... Digestive system disease (GINGF1) SOS1 [HSA:6654] [KO:K03099]
(GINGF5) REST [HSA:5978] [KO:K09222]
H01308 Macrocephaly macrosomia facial dysmorphism syndrome Macrocephaly macrosomia facial dysmorphism syndrome is characterized by overgrowth, learning disability, and dysmorphic features. Mutations in RNF135 cause this syndrome. Congenital malformation RNF135 [HSA:84282] [KO:K16272]
H01412 Perlman syndrome Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by polyhydramnios with neonatal macrosomia, visceromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis ... Congenital malformation DIS3L2 [HSA:129563] [KO:K18758]
H01440 Acute necrotizing ulcerative gingivitis
Vincent gingivitis
Vincent angina
Trench mouth 		... gingivitis is an acute bacterial infection of the gingiva caused by spirochetes, fusiform bacteria, or an overgrowth of normal oral flora. Predisposing factors include poor oral hygiene, advancing age, impaired ... Bacterial infectious disease
H01751 Weaver syndrome Weaver syndrome (WS) is an overgrowth syndrome, characterized by tall stature, a typical facial appearance, and variable intellectual disability. Although there is phenotypic overlap between Weaver syndrome ... Congenital malformation EZH2 [HSA:2146] [KO:K11430]
H01774 Hyperostosis corticalis generalisata Hyperostosis corticalis generalisata is characterized by progressive bone overgrowth, with narrowing of the neuroforamina in the skull causing cranial neuropathies. Autosomal recessive hyperostosis corticalis ... Musculoskeletal disease (VBCH) SOST [HSA:50964] [KO:K16834]
LRP5 [HSA:4041] [KO:K03068]
H01806 Tenorio syndrome Tenorio syndrome is a overgrowth syndrome characterized by overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren's syndrome [DS:H01502] ... Congenital malformation RNF125 [HSA:54941] [KO:K12170]
H01885 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
MPPH syndrome 		Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) is rare overgrowth disorder. MCAP [DS:H02153] and MPPH show very similar symptoms; the main symptoms are progressive megalencephaly ... Congenital malformation (MPPH1) PIK3R2 [HSA:5296] [KO:K02649]
(MPPH2) AKT3 [HSA:10000] [KO:K04456]
(MPPH3) CCND2 [HSA:894] [KO:K10151]
H01912 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
CLOVE syndrome 		Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose ... Congenital malformation PIK3CA [HSA:5290] [KO:K00922]
H02119 Proteus syndrome ... include, but are not limited to, cerebriform connective tissue nevus, linear epidermal nevus, asymmetric, disproportionate overgrowth, dysregulated adipose tissue, vascular malformations, and lung cysts. Congenital malformation AKT1 [HSA:207] [KO:K04456]
H02153 Megalencephaly-capillary malformation syndrome
MCAP syndrome 		Megalencephaly-capillary malformation (MCAP) syndrome is a rare overgrowth syndrome. The main symptoms are progressive megalencephaly, polymicrogyria, capillary malformations, syndactyly, and connective ... Congenital malformation PIK3CA [HSA:5290] [KO:K00922]
H02294 Tatton-Brown-Rahman syndrome Tatton-Brown-Rahman syndrome (TBRS) is a recently identified form of overgrowth syndrome, characterized by intellectual disabilities and facial feature. Mutations in the DNA methyltransferase gene DNMT3A ... Congenital malformation DNMT3A [HSA:1788] [KO:K17398]
H02297 CLAPO syndrome ... characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and neck, asymmetry, and partial/generalized overgrowth. CLAPO is caused by activating mutations in PIK3CA. Congenital malformation PIK3CA [HSA:5290] [KO:K00922]
H02298 Macrocephaly, dysmorphic facies, and psychomotor retardation Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is a rare autosomal recessive overgrowth syndrome. HERC1 mutations in individuals with MDFPMR have been reported. HERC1 is believed to ... Congenital malformation HERC1 [HSA:8925] [KO:K10594]
H02319 IMAGE syndrome ... metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an autosomal dominant undergrowth developmental disorder with life-threatening consequences and caused by mutations in CDKN1C. Endocrine and metabolic disease CDKN1C [HSA:1028] [KO:K09993]
H02347 Thauvin-Robinet-Faivre syndrome Thauvin-Robinet-Faivre syndrome (TROFAS) is an autosomal recessive overgrowth syndrome associated with tall stature, intellectual disability and renal anomalies. TROFAS is caused by mutations in FIBP, ... Congenital malformation FIBP [HSA:9158] [KO:K26161]
H02444 Luscan-Lumish syndrome Luscan-Lumish syndrome is an overgrowth condition caused by mutations in SETD2. It is characterised by macrocephaly, intellectual disability, speech delay, and behavioral problems. Congenital malformation SETD2 [HSA:29072] [KO:K11423]
H02477 Cohen-Gibson syndrome Cohen-Gibson syndrome (COGIS) is an overgrowth syndrome caused by mutations in EED. Patients are with overgrowth, facial dysmorphism and intellectual disability. EED is a member of the polycomb repressive ... Congenital malformation EED [HSA:8726] [KO:K11462]
H02522 Imagawa-Matsumoto syndrome Imagawa-Matsumoto syndrome is a very rare overgrowth syndrome that resembles Weaver syndrome [DS:H01751]. Mutations in SUZ12 cause this disease. SUZ12 is a core component of polycomb repressive complex ... Congenital malformation SUZ12 [HSA:23512] [KO:K11463]
H02631 Melorheostosis Melorheostosis (MEL) is a rare sclerosing hyperostosis characterized by asymmetric bone overgrowth and functional impairment. Recent studies indicate that most cases arise from somatic MAP2K1 mutations ... Musculoskeletal disease MAP2K1 [HSA:5604] [KO:K04368]
H02647 Macrodactyly ... consisting of enlargement of all tissues localized to the terminal portions of a limb. Macrodactyly is attributed to a somatic mutation in PIK3CA, a component of the mTOR pathway-related overgrowth disorders. Congenital malformation PIK3CA [HSA:5290] [KO:K00922]
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