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Entry Name Description Category Pathway Gene
H00602 Glucocorticoid-remediable aldosteronism (GRA)
Familial hyperaldosteronism type I 		... coding region. As a result, aldosterone is ectopically synthesized in the cortisol-secreting zona fasciculata of the adrenal gland under the control of adrenocorticotropin (ACTH). The high levels of mineralocorticoids ... Endocrine and metabolic disease CYP11B1 [HSA:1584] [KO:K00497]
CYP11B2 [HSA:1585] [KO:K07433]
H00632 Heterotaxy
Situs ambiguus 		Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations ... Congenital malformation (HTX1) ZIC3 [HSA:7547] [KO:K18487]
(HTX2) CFC1 [HSA:55997] [KO:K25454]
(HTX4) ACVR2B [HSA:93] [KO:K13596]
(HTX5) NODAL [HSA:4838] [KO:K04666]
(HTX6) CFAP53 [HSA:220136] [KO:K24225]
(HTX7) MMP21 [HSA:118856] [KO:K08000]
(HTX8) PKD1L1 [HSA:168507] [KO:K04987]
(HTX9) MNS1 [HSA:55329] [KO:K25441]
(HTX10) CFAP52 [HSA:146845] [KO:K24728]
(HTX11) CFAP45 [HSA:25790] [KO:K25551]
(HTX12) CIROP [HSA:100128908]
(RAI) GDF1 [HSA:2657] [KO:K05495]
H00740 Ichthyosis follicularis, alopecia, and photophobia syndrome ... syndrome is a rare X-linked genetic disorder characterized by congenital ichthyosis follicularis and noncicatricial universal alopecia. Photophobia is also present in early childhood. Other features include ... Congenital malformation (IFAP1) MBTPS2 [HSA:51360] [KO:K07765]
(IFAP2) SREBF1 [HSA:6720] [KO:K07197]
H00751 Asphyxiating thoracic dystrophy
Jeune syndrome 		Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare osteochondrodysplasia with characteristic skeletal abnormalities as well as the involvement of kidneys, liver, pancreas and ... Congenital malformation (ATD2) IFT80 [HSA:57560] [KO:K19678]
(ATD3) DYNC2H1 [HSA:79659] [KO:K10414]
(ATD4) TTC21B [HSA:79809] [KO:K19673]
(ATD5) WDR19 [HSA:57728] [KO:K19671]
H00762 Spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloepiphyseal dysplasia, Omani type 		... dislocations (SEDCJD) is also known as SED Omani type. Knees, hip and elbow dislocations are common. Thoracic kyphoscoliosis develops in late childhood. Affected individuals are homozygous for a missense mutation ... Congenital malformation CHST3 [HSA:9469] [KO:K01020]
H00773 Autosomal dominant intellectual developmental disorder
Autosomal dominant mental retardation 		Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most ... Mental and behavioural disorder (MRD1) MBD5 [HSA:55777] [KO:K23219]
(MRD2) DOCK8 [HSA:81704] [KO:K21852]
(MRD3) CDH15 [HSA:1013] [KO:K06809]
(MRD4) KIRREL3 [HSA:84623] [KO:K25874]
(MRD5) SYNGAP1 [HSA:8831] [KO:K17631]
(MRD6) GRIN2B [HSA:2904] [KO:K05210]
(MRD7) DYRK1A [HSA:1859] [KO:K08825]
(MRD8) GRIN1 [HSA:2902] [KO:K05208]
(MRD9) KIF1A [HSA:547] [KO:K10392]
(MRD10) CACNG2 [HSA:10369] [KO:K04867]
(MRD11) EPB41L1 [HSA:2036] [KO:K23961]
(MRD12) ARID1B [HSA:57492] [KO:K11653]
(MRD13) DYNC1H1 [HSA:1778] [KO:K10413]
(MRD14) ARID1A [HSA:8289] [KO:K11653]
(MRD15) SMARCB1 [HSA:6598] [KO:K11648]
(MRD16) SMARCA4 [HSA:6597] [KO:K11647]
(MRD17) PACS1 [HSA:55690] [KO:K23290]
(MRD18) GATAD2B [HSA:57459] [KO:K23194]
(MRD19) CTNNB1 [HSA:1499] [KO:K02105]
(MRD20) MEF2C [HSA:4208] [KO:K04454]
(MRD21) CTCF [HSA:10664] [KO:K23195]
(MRD22) ZBTB18 [HSA:10472] [KO:K23196]
(MRD23) SETD5 [HSA:55209] [KO:K23216]
(MRD24) DEAF1 [HSA:10522] [KO:K23041]
(MRD25) AHDC1 [HSA:27245] [KO:K22592]
(MRD26) AUTS2 [HSA:26053] [KO:K23214]
(MRD27) SOX11 [HSA:6664] [KO:K09268]
(MRD29) SETBP1 [HSA:26040] [KO:K23217]
(MRD30) ZMYND11 [HSA:10771] [KO:K23218]
(MRD31) PURA [HSA:5813] [KO:K21772]
(MRD32) KAT6A [HSA:7994] [KO:K11305]
(MRD33) DPP6 [HSA:1804] [KO:K23013]
(MRD34) COL4A3BP [HSA:10087] [KO:K08283]
(MRD35) PPP2R5D [HSA:5528] [KO:K11584]
(MRD36) PPP2R1A [HSA:5518] [KO:K03456]
(MRD38) EEF1A2 [HSA:1917] [KO:K03231]
(MRD39) MYT1L [HSA:23040] [KO:K23193]
(MRD40) CHAMP1 [HSA:283489] [KO:K22593]
(MRD41) TBL1XR1 [HSA:79718] [KO:K04508]
(MRD42) GNB1 [HSA:2782] [KO:K04536]
(MRD43) HIVEP2 [HSA:3097] [KO:K09239]
(MRD44/63) TRIO [HSA:7204] [KO:K08810]
(MRD45) CIC [HSA:23152] [KO:K20225]
(MRD46) KCNQ5 [HSA:56479] [KO:K04930]
(MRD47) STAG1 [HSA:10274] [KO:K06671]
(MRD48) RAC1 [HSA:5879] [KO:K04392]
(MRD49) TRIP12 [HSA:9320] [KO:K10590]
(MRD50) NAA15 [HSA:80155] [KO:K20792]
(MRD51) KMT5B [HSA:51111] [KO:K11429]
(MRD52) ASH1L [HSA:55870] [KO:K06101]
(MRD53) CAMK2A [HSA:815] [KO:K04515]
(MRD54) CAMK2B [HSA:816] [KO:K04515]
(MRD55) NUS1 [HSA:116150] [KO:K19177]
(MRD56) CLTC [HSA:1213] [KO:K04646]
(MRD57) TLK2 [HSA:11011] [KO:K08864]
(MRD58) SET [HSA:6418] [KO:K11290]
(MRD59) CAMK2G [HSA:818] [KO:K04515]
(MRD60) AP2M1 [HSA:1173] [KO:K11826]
(MRD61) MED13 [HSA:9969] [KO:K15164]
(MRD62) DLG4 [HSA:1742] [KO:K11828]
(MRD64) ZNF292 [HSA:23036] [KO:K26728]
(MRD65) KDM4B [HSA:23030] [KO:K06709]
(MRD66) ATP2B1 [HSA:490] [KO:K05850]
(MRD67) GRIA1 [HSA:2890] [KO:K05197]
(MRD68) KMT2B [HSA:9757] [KO:K14959]
(MRD69) LMAN2L [HSA:81562] [KO:K10083]
(MRD70) SETD2 [HSA:29072] [KO:K11423]
(MRD71) RFX7 [HSA:64864] [KO:K09175]
(MRD72) SRRM2 [HSA:23524] [KO:K13172]
(MRD73) TAF4 [HSA:6874] [KO:K03129]
(MRD74) HNRNPC [HSA:3183] [KO:K12884]
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 (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] [KO:K25410]
(AAT10) LOX [HSA:4015] [KO:K00277]
(AAT11) FOXE3 [HSA:2301] [KO:K09398]
(AAT12) THSD4 [HSA:79875] [KO:K23377]
H01478 Machado-Joseph disease
Spinocerebellar ataxia 3 		... but more specific, features such as external progressive ophthalmoplegia (EPO), dystonia, intention fasciculation-like movements of facial and lingual muscles, as well as bulging eyes, may also be of major ... Neurodegenerative disease ATXN3 (CAG repeat expansion) [HSA:4287] [KO:K11863]
H01494 SEMD with joint laxity type ... abnormalities, ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. The individuals with SEMDJL2 was ... Congenital malformation (SEMDJL1) B3GALT6 [HSA:126792] [KO:K00734]
(SEMDJL2) KIF22 [HSA:3835] [KO:K10403]
(SEMDJL3) EXOC6B [HSA:23233] [KO:K19985]
H01707 Ossified ligamentum flavum
Ossification of the yellow ligament 		... subsequent ossification, which narrows the spinal canal and leads to myeloradiculopathy. The lower thoracic spine is most commonly affected. Previous hyperkyphosis and mechanical stress are thought to be predisposing ... Musculoskeletal disease
H01708 Diffuse idiopathic skeletal hyperostosis
Forestier disease
Ankylosing hyperostosis
Ossification of the anterior longitudinal ligament 		... obstruction. Although the hallmark of the DISH is considered to be the anterolateral aspect of the thoracic spine, various signs and symptoms are not limited to the spine and have often been reported to involve ... Musculoskeletal disease
H01716 Idiopathic interstitial pneumonias ... central role in symptom management and has beneficial effects. According to the current American thoracic society/European respiratory society (ATS/ERS), IIPs are categorised as major IIPs, rare IIPs and ... Respiratory system disease
H01735 Lymphangiomatosis ... its potential presentation, including micro- and macrocystic isolated lymphatic malformations, thoracic and intraabdominal diffuse lymphangiomatosis, and osseous and soft-tissue presentations known as ... Neoplasm
H01843 Cerebrocostomandibular syndrome ... patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. Key radiological findings are of a narrow thorax, multiple posterior rib ... Congenital malformation SNRPB [HSA:6628] [KO:K11086]
H01851 Congenital scoliosis associated with rib anomalies ... right or left side do not match, congenital vertebral anomalies should be suspected. An extensive thoracic congenital scoliosis associated with fused ribs may affect thoracic function and the growth of the ... Congenital malformation
H01912 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
CLOVE syndrome 		... at birth. The fatty growths often extend from the trunk into the retroperitoneum, mediastinum, thoracic cavity, and epidural space. Deeper fast-flow and slow-flow vascular anomalies become evident early ... Congenital malformation PIK3CA [HSA:5290] [KO:K00922]
H02064 Atelosteogenesis type I and III ... dysplasias with overlapping phenotypic features that include rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations, talipes equinovarus, and early death. Atelosteogenesis type ... Congenital malformation FLNB [HSA:2317] [KO:K27392]
H02157 Short-rib thoracic dysplasia Short-rib thoracic dysplasia (SRTD) is a group of autosomal recessive skeletal ciliopathies. The ciliary machinery has been implicated in more than a dozen disorders, now called ciliopathies. Primary cilia ... Congenital malformation (SRTD2) IFT80 [HSA:57560] [KO:K19678]
(SRTD3) DYNC2H1 [HSA:79659] [KO:K10414]
(SRTD4) TTC21B [HSA:79809] [KO:K19673]
(SRTD5) WDR19 [HSA:57728] [KO:K19671]
(SRTD6) NEK1 [HSA:4750] [KO:K08857]
(SRTD7) WDR35 [HSA:57539] [KO:K19674]
(SRTD8) DYNC2I1 [HSA:55112] [KO:K22869]
(SRTD9) IFT140 [HSA:9742] [KO:K19672]
(SRTD10) IFT172 [HSA:26160] [KO:K19676]
(SRTD11) DYNC2I2 [HSA:89891] [KO:K22868]
(SRTD13) CEP120 [HSA:153241] [KO:K16459]
(SRTD14) JBTS23 [HSA:9786] [KO:K22865]
(SRTD15) DYNC2LI1 [HSA:51626] [KO:K10417]
(SRTD16) IFT52 [HSA:51098] [KO:K19681]
(SRTD17) DYNLT2B [HSA:255758] [KO:K22866]
(SRTD18) IFT43 [HSA:112752] [KO:K19675]
(SRTD19) IFT81 [HSA:28981] [KO:K19677]
(SRTD20) INTU [HSA:27152] [KO:K22862]
(SRTD21) JBTS38 [HSA:9851] [KO:K21765]
H02720 Meester-Loeys syndrome Meester-Loeys syndrome (MRLS) is an X-linked thoracic aortic aneurysm and dissection (TAAD) syndrome. In addition to the aorta, aneurysms in the brain, pulmonary artery, and ductus arteriosus have been ... Cardiovascular disease BGN [HSA:633] [KO:K08118]
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