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Entry Name Description Category Pathway Gene
H00155 Familial hypercholesterolemia
Autosomal dominant hypercholesterolaemia 		Familial hypercholesterolaemia (FHCL) is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation ... Inherited metabolic disorder (FHCL1) LDLR [HSA:3949] [KO:K12473]
(FHCL1) EPHX2 [HSA:2053] [KO:K08726]
(FHCL1) GHR [HSA:2690] [KO:K05080]
(FHCL1) PPP1R17 [HSA:10842] [KO:K08067]
(FHCL1) APOA2 [HSA:336] [KO:K08758]
(FHCL2) APOB [HSA:338] [KO:K14462]
(FHCL3) PCSK9 [HSA:255738] [KO:K13050]
(FHCL4) LDLRAP1 [HSA:26119] [KO:K12474]
H00254 Growth hormone deficiency
Pituitary dwarfism 		Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short stature and normal body proportions caused by growth hormone ... Endocrine and metabolic disease (IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438]
(IGHD3) BTK [HSA:695] [KO:K07370]
(IGHD4) GHRHR [HSA:2692] [KO:K04584]
(CPHD1) POU1F1 [HSA:5449] [KO:K09363]
(CPHD2) PROP1 [HSA:5626] [KO:K09327]
(CPHD3) LHX3 [HSA:8022] [KO:K09374]
(CPHD4) LHX4 [HSA:89884] [KO:K09374]
(CPHD5) HESX1 [HSA:8820] [KO:K09354]
(CPHD6) OTX2 [HSA:5015] [KO:K18490]
(CPHD7/IGHD5) RNPC3 [HSA:55599] [KO:K13157]
(CPHD8) ROBO1 [HSA:6091] [KO:K06753]
(PD2) GHR [HSA:2690] [KO:K05080]
(PHPX) SOX3 [HSA:6658] [KO:K09267]
(GHDP) GHSR [HSA:2693] [KO:K04284]
H01700 Hypopituitarism Hypopituitarism is a chronic endocrine illness, and is the partial or complete insufficiency of anterior pituitary hormone secretion. Anterior pituitary is composed of five cell types that secrete growth ... Endocrine and metabolic disease GHRH [HSA:2691] [KO:K05260]
TRH receptor [HSA:7201] [KO:K04282]
H02035 Isolated growth hormone deficiency Isolated growth hormone deficiency (IGHD) is conditions associated with childhood growth failure due to lack of growth hormone (GH) action, and not necessarily associated with other pituitary hormone deficiencies ... Endocrine and metabolic disease (IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438]
(IGHD3) BTK [HSA:695] [KO:K07370]
(IGHD4) GHRHR [HSA:2692] [KO:K04584]
(IGHD5) RNPC3 [HSA:55599] [KO:K13157]
H02037 Laron syndrome
Growth hormone insensitivity syndrome
Pituitary dwarfism II 		... insensitivity to growth hormone (GH). The disorder is caused by mutations of the gene encoding the GH receptor (GHR), leading to defective functioning of the GH-IGF1 signalling pathway. The main phenotypic feature ... Endocrine and metabolic disease GHR [HSA:2690] [KO:K05080]
H02106 Genetic obesity Obesity predisposes to many diseases. It has a very heterogeneous phenotypic expression and the molecular mechanisms involved in its development are diverse. Although environmental factors are important ... Endocrine and metabolic disease NR0B2 [HSA:8431] [KO:K08563]
SDC3 [HSA:9672] [KO:K16337]
POMC [HSA:5443] [KO:K05228]
GHRL [HSA:51738] [KO:K05254]
PPARG [HSA:5468] [KO:K08530]
CARTPT [HSA:9607] [KO:K25453]
PPARGC1B [HSA:133522] [KO:K17962]
ENPP1 [HSA:5167] [KO:K01513]
ADRB2 [HSA:154] [KO:K04142]
ADRB3 [HSA:155] [KO:K04143]
AGRP [HSA:181] [KO:K05231]
UCP1 (polymorphism) [HSA:7350] [KO:K08769]
UCP3 [HSA:7352] [KO:K15103]
(BMIQ4) UCP2 [HSA:7351] [KO:K15103]
(BMIQ9) MC3R [HSA:4159] [KO:K04201]
(BMIQ10) FFAR4 [HSA:338557] [KO:K08425]
(BMIQ11) SLC6A14 [HSA:11254] [KO:K05047]
(BMIQ12) PCSK1 [HSA:5122] [KO:K01359]
(BMIQ14) FTO [HSA:79068] [KO:K19469]
(BMIQ17) AQP7 [HSA:364] [KO:K08771]
(BMIQ18) MRAP2 [HSA:112609] [KO:K25968]
(BMIQ19) ADCY3 [HSA:109] [KO:K08043]
(BMIQ20) MC4R [HSA:4160] [KO:K04202]
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