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Entry Name Description Category Pathway Gene
H00032 Thyroid cancer ... growing, well-differentiated papillary and follicular carcinomas (PTC and FTC, respectively) to the extremely aggressive undifferentiated carcinoma (UC). Somatic rearrangements of RET and TRK are almost ... Cancer hsa05216 Thyroid cancer RET/CCDC6 (rearrangement) [HSA:5979 8030] [KO:K05126 K09288]
RET/NCOA4 (rearrangement) [HSA:5979 8031] [KO:K05126 K09289]
TPM3/NTRK1 (rearrangement) [HSA:4914 7170] [KO:K03176 K09290]
TPR/NTRK1 (rearrangement) [HSA:7175 7170] [KO:K09291 K09290]
TFG/NTRK1 (rearrangement) [HSA:10342 7170] [KO:K09292 K09290]
PAX8/PPARG (rearrangement) [HSA:7849 5468] [KO:K09293 K08530]
KRAS [HSA:3845] [KO:K07827]
HRAS [HSA:3265] [KO:K02833]
NRAS [HSA:4893] [KO:K07828]
BRAF [HSA:673] [KO:K04365]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
CDH1 [HSA:999] [KO:K05689]
MINPP1 [HSA:9562] [KO:K03103]
(NMTC1) NKX2-1 [HSA:7080] [KO:K09342]
(NMTC2) SRGAP1 [HSA:57522] [KO:K07526]
(NMTC4) FOXE1 [HSA:2304] [KO:K09398]
(NMTC5) HABP2 [HSA:3026] [KO:K08648]
H00037 Rhabdomyosarcoma ... a pediatric sarcoma that typically occurs in older children predominantly arising in the trunk and extremities, and exhibits a worse prognosis than other types of RMSs. ARMS is associated with 2;13 or 1;13 ... Cancer PAX3-FOXO1 (translocation) [HSA:5077 2308] [KO:K09381 K07201]
PAX7-FOXO1 (translocation) [HSA:5081 2308] [KO:K09381 K07201]
MDM2 (amplification) [HSA:4193] [KO:K06643]
SLC22A18 [HSA:5002] [KO:K08214]
DICER1 [HSA:23405] [KO:K11592]
H00053 Extraskeletal myxoid chondrosarcoma ... tumor with prominent myxoid morphology. The tumor most commonly develops in deep parts of the proximal extremities and limb girdles in middle-aged adults, and there is a predilection for male patients. Currently ... Cancer EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559]
TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559]
H00107 Other well-defined immunodeficiency syndromes ... region, or DGCR). Hyper-IgE syndrome (HIES) is characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Dominant-negative ... Primary immunodeficiency WAS [HSA:7454] [KO:K05747]
TBX1 [HSA:6899] [KO:K10175]
STAT3 [HSA:6774] [KO:K04692]
TYK2 [HSA:7297] [KO:K11219]
SH2D1A [HSA:4068] [KO:K07990]
XIAP [HSA:331] [KO:K04725]
ITK [HSA:3702] [KO:K07363]
AIRE [HSA:326] [KO:K10603]
FOXP3 [HSA:50943] [KO:K10163]
RMRP [HSA:6023] [KO:K14576]
H00120 Muscular dystrophy-dystroglycanopathy type A ... now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. At the most severe end of the clinical spectrum are Walker-Warburg syndrome (WWS), ... Inherited metabolic disorder (MDDGA1) POMT1 [HSA:10585] [KO:K00728]
(MDDGA2) POMT2 [HSA:29954] [KO:K00728]
(MDDGA3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGA4) FKTN [HSA:2218] [KO:K19872]
(MDDGA5) FKRP [HSA:79147] [KO:K19873]
(MDDGA6) LARGE [HSA:9215] [KO:K09668]
(MDDGA7) CRPPA [HSA:729920] [KO:K21031]
(MDDGA8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGA9) DAG1 [HSA:1605] [KO:K06265]
(MDDGA10) RXYLT1 [HSA:10329] [KO:K21052]
(MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654]
(MDDGA12) POMK [HSA:84197] [KO:K17547]
(MDDGA13) B4GAT1 [HSA:11041] [KO:K21032]
(MDDGA14) GMPPB [HSA:29925] [KO:K00966]
H00266 Hereditary spastic paraplegia Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity. Nervous system disease (SPG1) L1CAM [HSA:3897] [KO:K06550]
(SPG2) PLP1 [HSA:5354] [KO:K17271]
(SPG3) ATL1 [HSA:51062] [KO:K17339]
(SPG4) SPAST [HSA:6683] [KO:K13254]
(SPG5) CYP7B1 [HSA:9420] [KO:K07430]
(SPG6) NIPA1 [HSA:123606] [KO:K19364]
(SPG7) SPG7 [HSA:6687] [KO:K09552]
(SPG8) WASHC5 [HSA:9897] [KO:K18464]
(SPG9) ALDH18A1 [HSA:5832] [KO:K12657]
(SPG10) KIF5A [HSA:3798] [KO:K10396]
(SPG11) SPG11 [HSA:80208] [KO:K19026]
(SPG12) RTN2 [HSA:6253] [KO:K20722]
(SPG13) HSPD1 [HSA:3329] [KO:K04077]
(SPG15) ZFYVE26 [HSA:23503] [KO:K19027]
(SPG17) BSCL2 [HSA:26580] [KO:K19365]
(SPG18A/18B) ERLIN2 [HSA:11160] [KO:K23341]
(SPG20) SPART [HSA:23111] [KO:K19366]
(SPG21) SPG21 [HSA:51324] [KO:K19367]
(SPG23) DSTYK [HSA:25778] [KO:K16288]
(SPG26) B4GALNT1 [HSA:2583] [KO:K00725]
(SPG28) DDHD1 [HSA:80821] [KO:K13619]
(SPG30) KIF1A [HSA:547] [KO:K10392]
(SPG31) REEP1 [HSA:65055] [KO:K17338]
(SPG33) ZFYVE27 [HSA:118813] [KO:K19368]
(SPG35) FA2H [HSA:79152] [KO:K19703]
(SPG39) PNPLA6 [HSA:10908] [KO:K14676]
(SPG42) SLC33A1 [HSA:9197] [KO:K03372]
(SPG43) C19orf12 [HSA:83636] [KO:K23168]
(SPG44) GJC2 [HSA:57165] [KO:K07619]
(SPG45) NT5C2 [HSA:22978] [KO:K01081]
(SPG46) GBA2 [HSA:57704] [KO:K17108]
(SPG47) AP4B1 [HSA:10717] [KO:K12401]
(SPG48) AP5Z1 [HSA:9907] [KO:K19025]
(SPG49) TECPR2 [HSA:9895] [KO:K23881]
(SPG50) AP4M1 [HSA:9179] [KO:K12402]
(SPG51) AP4E1 [HSA:23431] [KO:K12400]
(SPG52) AP4S1 [HSA:11154] [KO:K12403]
(SPG53) VPS37A [HSA:137492] [KO:K12185]
(SPG54) DDHD2 [HSA:23259] [KO:K16545]
(SPG55) MTRFR [HSA:91574] [KO:K23498]
(SPG56) CYP2U1 [HSA:113612] [KO:K07422]
(SPG57) TFG [HSA:10342] [KO:K09292]
(SPG61) ARL6IP1 [HSA:23204] [KO:K24864]
(SPG62) ERLIN1 [HSA:10613] [KO:K23341]
(SPG63) AMPD2 [HSA:271] [KO:K01490]
(SPG64) ENTPD1 [HSA:953] [KO:K01510]
(SPG70) MARS1 [HSA:4141] [KO:K01874]
(SPG72A/72B) REEP2 [HSA:51308] [KO:K17338]
(SPG73) CPT1C [HSA:126129] [KO:K19524]
(SPG74) IBA57 [HSA:200205] [KO:K22073]
(SPG75) MAG [HSA:4099] [KO:K06771]
(SPG76) CAPN1 [HSA:823] [KO:K01367]
(SPG77) FARS2 [HSA:10667] [KO:K01889]
(SPG78) ATP13A2 [HSA:23400] [KO:K13526]
(SPG79A/79B) UCHL1 [HSA:7345] [KO:K05611]
(SPG80) UBAP1 [HSA:51271] [KO:K24629]
(SPG81) SELENOI [HSA:85465] [KO:K00993]
(SPG82) PCYT2 [HSA:5833] [KO:K00967]
(SPG83) HPDL [HSA:84842] [KO:K24788]
(SPG84) PI4KA [HSA:5297] [KO:K00888]
(SPG85) RNF170 [HSA:81790] [KO:K15707]
(SPG86) ABHD16A [HSA:7920] [KO:K25824]
(SPG87) TMEM63C [HSA:57156] [KO:K21989]
(SPG88) KPNA3 [HSA:3839] [KO:K23583]
(SPG89) AMFR [HSA:267] [KO:K10636]
(SPG90A/90B) SPTSSA [HSA:171546] [KO:K26384]
(SPG91) SPTAN1 [HSA:6709] [KO:K06114]
H00420 Familial partial lipodystrophy ... lipodystrophy (FPL) is a rare autosomal dominant disorder characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have been identified in association ... Inherited metabolic disorder (FPLD2) LMNA [HSA:4000] [KO:K12641]
(FPLD3) PPARG [HSA:5468] [KO:K08530]
(FPLD4) PLIN1 [HSA:5346] [KO:K08768]
(FPLD5) CIDEC [HSA:63924] [KO:K25878]
(FPLD6) LIPE [HSA:3991] [KO:K07188]
(FPLD7) CAV1 [HSA:857] [KO:K06278]
(FPLD8) ADRA2A [HSA:150] [KO:K04138]
(FPLD9) PLAAT3 [HSA:11145] [KO:K16817]
(APLD) LMNB2 [HSA:84823] [KO:K07611]
AKT2 [HSA:208] [KO:K04456]
H00438 Nasu-Hakola disease
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 		... and progressive presenile dementia in the fourth decade. The disease is caused by a mutation in the TREM2 or DAP12 gene that regulates osteoclast differentiation. TREM2-DAP12 is also expressed by microglia ... Inherited metabolic disorder (PLOSL1) DAP12 [HSA:7305] [KO:K07992]
(PLOSL2) TREM2 [HSA:54209] [KO:K14378]
H00474 Schneckenbecken dysplasia ... characteristic is the snail-like configuration of the hypoplastic iliac bones. Patients also have limbs with extremely short long bones and flat vertebratal bodies. Loss-of-function mutations in SLC35D1 gene impair ... Congenital malformation SLC35D1 [HSA:23169] [KO:K15281]
H00495 Eiken dysplasia Eiken dysplasia is an extremely rare form of multiple epiphyseal dysplasia. It is caused by a homozygous nonsense mutation in the PTHR1 gene. Congenital malformation PTHR1 [HSA:5745] [KO:K04585]
H00531 Venous malformations ... malformation appear mainly on skin and mucosa, whereas plaques in glomuvenous malformation are located on the extremities, usually nodular and associated with abnormal smooth muscle-like 'glomus cells'. Most cases ... Congenital malformation (sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121]
(glomuvenous) GLMN [HSA:11146] [KO:K23345]
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]
H00535 Lymphatic malformation ... lymphedema (LMPH), is a form of generalized lymphatic dysplasia characterized by chronic lesions of the extremities due to insufficient lymphatic drainage. The dilated lymphatic channels that are not connected ... Congenital malformation (LMPHM1/LMPH1A) FLT4 [HSA:2324] [KO:K05097]
(LMPHM3/LMPH1C) GJC2 [HSA:57165] [KO:K07619]
(LMPHM4/LMPH1D) VEGFC [HSA:7424] [KO:K05449]
(LMPHM6/LMPH3) PIEZO1 [HSA:9780] [KO:K22128]
(LMPHM7) EPHB4 [HSA:2050] [KO:K05113]
(LMPHM8) CALCRL [HSA:10203] [KO:K04577]
(LMPHM9) CELSR1 [HSA:9620] [KO:K04600]
(LMPHM10) ANGPT2 [HSA:285] [KO:K05466]
(LMPHM11) TIE1 [HSA:7075] [KO:K05120]
(LMPHM12) MDFIC [HSA:29969]
(LMPHM13) THSD1 [HSA:55901] [KO:K24433]
(LMPHM14) ERG [HSA:2078] [KO:K09435]
H00591 Facioscapulohumeral muscular dystrophy ... characterized by initially restricted weakness of shoulder and facial muscles. With progression, the lower extremities, both distal and proximal, become involved. FSHD is caused by a reduction in the copy number ... Nervous system disease; Musculoskeletal disease (FSHD1) FRG1 [HSA:2483] [KO:K13122]
(FSHD2) SMCHD1 [HSA:23347] [KO:K23113]
(FSHD3) LRIF1 [HSA:55791] [KO:K23220]
(FSHD4) DNMT3B [HSA:1789] [KO:K17399]
H00623 Hajdu-Cheney syndrome ... tissue disorder characterized by acro-osteolysis, osteoporotic changes of the spine/long bones of extremities, and insufficient ossification of the skull. Disturbed notch pathway that plays a role in bone ... Musculoskeletal disease NOTCH2 [HSA:4853] [KO:K20994]
H00629 Acheiropodia Acheiropodia is an extremely rare, severe congenital malformation caused by LMBR1 deletion. Patients show malformed upper and lower extremities with amputation of distal limbs and aplasia of hands and ... Congenital malformation (ACHP) LMBR1 [HSA:64327] [KO:K25217]
H00634 Duane-radial ray syndrome
Okihiro syndrome 		... an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper extremities and deafness. Mutations in the transcription factor SALL4 are the cause of the disorder. Congenital malformation SALL4 [HSA:57167] [KO:K19871]
H00636 Tetra-amelia syndrome Tetra-amelia syndrome (TETAMS) is an extremely rare condition characterized by the complete absence of all four limbs. Patients commonly have other anomalies involving the face, eyes, heart, nervous system ... Congenital malformation (TETAMS1) WNT3 [HSA:7473] [KO:K00312]
(TETAMS2) RSPO2 [HSA:340419] [KO:K23097]
H00668 Anemia due to disorders of glutathione metabolism ... ingestion of fava beans. GCLC catalyzes the initial and the rate-limiting step of glutathione synthesis. Deficiency of GCLC is extremely rare. GSS deficiency is a more frequent cause of glutathione deficiency. Hematologic disease G6PD [HSA:2539] [KO:K00036]
GPX1 [HSA:2876] [KO:K00432]
GCLC [HSA:2729] [KO:K11204]
GSS [HSA:2937] [KO:K21456]
GSR [HSA:2936] [KO:K00383]
H00678 Achondrogenesis type IA
Achondrogenesis, Houston-Harris type 		Achondrogenesis type IA is an extremely rare neonatal lethal chondrodysplasia. The disorder shows poorly ossified vertebral bodies/skull and completely lacked columnar-zone of the growth plate cartilage ... Congenital malformation TRIP11 [HSA:9321] [KO:K23368]
H00705 Myotonia congenita ... Thomsen disease are a painless, transient, muscle stiffness with a predilection for both the upper extremity and the facial muscles. Compared with Thomsen disease, Becker disease is more common, more insidious ... Nervous system disease; Musculoskeletal disease CLCN1 [HSA:1180] [KO:K05010]
H00771 Inherited erythromelalgia
Primary erythromelalgia 		... characterized by intense episodic burning pain associated with redness and warmth of the affected extremities and in many instances occurs as an autosomal dominant trait. Symptoms of IEM can start as early ... Skin disease SCN9A [HSA:6335] [KO:K04841]
H00772 Paroxysmal extreme pain disorder Paroxysmal extreme pain disorder (PEPD) is an autosomal dominant pain disorder resulting from a set of gain-of-function mutations in SCN9A, the gene encoding Nav1.7, that impair inactivation of Nav1.7 ... Nervous system disease SCN9A [HSA:6335] [KO:K04841]
H00784 Localized autosomal recessive hypotrichosis ... autosomal recessive trait. Affected individuals display short, sparse hairs on the scalp, trunk, and extremities. Facial hair including the eye-brows, eye-lashes and beard show a broad range of hypotrichosis ... Skin disease (LAH1) DSG4 [HSA:147409] [KO:K07599]
(LAH2) LIPH [HSA:200879] [KO:K19404]
(LAH3) P2Y5 [HSA:10161] [KO:K04273]
H00798 Familial carpal tunnel syndrome ... characterized by paresthesias in the district of the median nerve. Familial carpal tunnel syndrome is an extremely rare form with bilateral symptom that is frequently associated with inherited systemic disorders ... Nervous system disease (CTS1) TTR [HSA:7276] [KO:K20731]
(CTS2) COMP [HSA:1311] [KO:K04659]
H00824 Calcification of joints and arteries Calcification of joints and arteries is a condition in which calcifications of the lower-extremity arteries and articular capsules of hand and foot occur. Affected individuals harbor mutations in NT5E ... Cardiovascular disease NT5E [HSA:4907] [KO:K19970]
H00874 Leukoencephalopathy with dystonia and motor neuropathy
Sterol carrier protein 2 deficiency 		... the breakdown of branched-chain fatty acids. The patient presents with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia Inherited metabolic disorder, Peroxisomal disease SCP2 [HSA:6342] [KO:K08764]
H00877 Brain small vessel disease ... microbleeds, or diffuse white matter diseases. Approximately 5% of BSVDs are considered hereditary, with an extremely young age of onset. To date, several genes have been associated with hereditary BSVD. Mutations ... Cardiovascular disease (BSVD1) COL4A1 [HSA:1282] [KO:K06237]
(BSVD2) COL4A2 [HSA:1284] [KO:K06237]
(BSVD3) COLGALT1 [HSA:79709] [KO:K11703]
H00942 Rabson-Mendenhall syndrome ... severe insulin resistance due to mutations in the insulin receptor (INSR) gene. Obligatory symptoms are extreme hyperinsulinemia and profound insulin-resistance diabetes. Additional characteristics of RMS can ... Endocrine and metabolic disease INSR [HSA:3643] [KO:K04527]
H01020 Optic atrophy ... By contrast, autosomal recessive forms of optic atrophies (arOAs) are less frequent, and most cases are syndromic (e.g., OPA3 and OPA7). Isolated or nonsyndromic arOAs are believed to be extremely rare. Nervous system disease (OPA1) OPA1 [HSA:4976] [KO:K17079]
(OPA3) OPA3 [HSA:80207] [KO:K23166]
(OPA5) DNM1L [HSA:10059] [KO:K17065]
(OPA7) TMEM126A [HSA:84233] [KO:K18157]
(OPA9) ACO2 [HSA:50] [KO:K01681]
(OPA10) RTN4IP1 [HSA:84816] [KO:K23164]
(OPA11) YME1L1 [HSA:10730] [KO:K08955]
(OPA12) AFG3L2 [HSA:10939] [KO:K08956]
(OPA13) SSBP1 [HSA:6742] [KO:K03111]
(OPA14) MIEF1 [HSA:54471] [KO:K23507]
(OPA15) MCAT [HSA:27349] [KO:K00645]
(OPA16) MECR [HSA:51102] [KO:K07512]
H01022 Diseases of the tricarboxylic acid cycle ... cardiomyopathy and mental and motor skill deterioration. The alpha-ketoglutarate dehydrogenase deficiency is extremely rare and characterised by encephalopathy and hyperlactatemia resulting in death in early childhood Inherited metabolic disorder (FMRD) FH [HSA:2271] [KO:K01679]
(MC2DN1) SDHA [HSA:6389] [KO:K00234]
(OGDHD) OGDH [HSA:4967] [KO:K00164]
H01044 Dracunculiasis
Guinea worm disease 		... infected with D. medinensis larvae. In infected individuals, the worm emerges as a whitish filament in the center of a painful ulcer of the lower extremity, impairing mobility for up to several weeks. Parasitic infectious disease
H01045 Schistosomiasis Schistosomiasis is a parasitic disease caused by trematode worms of the genus Schistosoma. Schistosomiasis is one of the most devastating tropical diseases in the world, and WHO estimates 600 million people ... Parasitic infectious disease
H01093 Paragonimiasis
Pulmonary distomatosis
Lung fluke disease
Benign endemic hemoptysis 		Paragonimiasis (also known as lung fluke infection) is a food-borne parasitic disease caused by infection with trematodes belonging to the genus Paragonimus. Human infections occur by consuming freshwater crustaceans ... Parasitic infectious disease
H01155 Roussy-Levy syndrome ... consisting of gait ataxia, pes cavus, areflexia, eventually associated with muscle atrophy, postural tremors, limb ataxia, kyphoscoliosis, and sensory loss. The RLS subtype is not genetically homogeneous ... Nervous system disease MPZ [HSA:4359] [KO:K06770]
PMP22 [HSA:5376] [KO:K19289]
H01179 Tungiasis
Chigoe flea 		... of the female flea Tunga penetrans into the skin of its host. It is prevalent where people live in extreme poverty, occurring in many Latin American and African countries. The contamination occurs when ... Parasitic infectious disease
H01228 Insulin-resistant diabetes mellitus with acanthosis nigricans
Type A insulin resistance 		... associated with mutations of the insulin receptor (INSR) gene, characterized by phenotypic description of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism. Other phenotype of IRAN form includes ... Metabolic disease; Endocrine disease INSR [HSA:3643] [KO:K04527]
H01259 Giant axonal neuropathy ... neuropathy-2 (GAN2) is an autosomal dominant disorder, caused by mutations in DCAF8. GAN2 is characterized by distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade. Neurodegenerative disease (GAN1) GAN [HSA:8139] [KO:K10453]
(GAN2) DCAF8 [HSA:50717] [KO:K11804]
H01294 Nephrogenic syndrome of inappropriate antidiuresis ... antidiuresis (NSIAD) is a disorder of water balance caused by gain of function mutation of arginine vasopressin receptor type 2 (AVPR2) resulting in free water reabsorption and episodes of hyponatremia. Endocrine and metabolic disease AVPR2 [HSA:554] [KO:K04228]
H01391 Familial episodic pain syndrome ... neurological disorder characterized by episodes of debilitating pain in the upper body and the distal lower extremities, triggered by conditions of fatigue, fasting, and cold. Gain-of-function mutations in TRPA1 ... Musculoskeletal disease (FEPS1) TRPA1 [HSA:8989] [KO:K04984]
(FEPS2) SCN10A [HSA:6336] [KO:K04842]
(FEPS3) SCN11A [HSA:11280] [KO:K04843]
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