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Entry Name Description Category Pathway Gene
H00107 Other well-defined immunodeficiency syndromes ... hypogammaglobulinemia. Mutations in the X-linked inhibitor of apoptosis (XIAP) as well as in a distinct gene, SLAM-associated protein (SAP/DSP1/SH2D1A) have been identified in patients with XLP. Recently, it has ... 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]
H00272 Multiple sulfatase deficiency ... lysosomal storage disorder caused by deficiency of sulfatase modifying factor 1 (SUMF1), which posttranslationally activates lysosomal sulfatases by generating formylglycine in their catalytic sites. MSD ... Inherited metabolic disorder, Lysosomal disease SUMF1 [HSA:285362] [KO:K13444]
H00397 Ross River fever ... River virus (RRV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes and Culex mosquitoes. RRV was first isolated in 1972 near Ross River in North Queensland, Australia. Viral infectious disease
H00404 Erythema infectiosum
Fifth disease 		... disease, is a benign pediatric condition caused by B19 parvovirus. It causes a mild, self-limiting 'slapped-cheek' facial rash with low-grade fever and malaise in immunocompetent children. Parvovirus B ... Viral infectious disease
H00465 Fragile X syndrome ... associated with FXS, including elongated faces, prominent ears, and macroorchidism. The most prevalent genetic aberration at the FMR1 locus arises from a noncoding CGG repeat in the 5'untranslated region. Chromosomal abnormality FMR1 [HSA:2332] [KO:K15516]
H00568 Myotonic dystrophy ... to two different genetic loci. DM1 is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK. DM2 is caused by an unstable CCTG repeat in intron 1 of ZNF9. Therefore ... Nervous system disease; Musculoskeletal disease (DM1) DMPK [HSA:1760] [KO:K08788]
(DM2) CNBP [HSA:7555] [KO:K09250]
H00690 Aland Island eye disease
Forsius-Eriksson syndrome 		Aland Island eye disease (AIED) is an X-linked form of ocular hypopigmentation. Affected males demonstrate nystagmus, decreased visual acuity, myopia, astigmatism, achromatopsia, and fundus hypopigmentation Nervous system disease CACNA1F [HSA:778] [KO:K04853]
H00713 Beckwith-Wiedemann syndrome ... the ICR2 or mutations in the ICR2-regulated CDKN1C gene. In intron 10 of the KCNQ1 locus, the untranslated KCNQ1OT1 RNA is encoded. KCNQ10T1 is expressed by the paternal allele and probably represses realization ... Congenital malformation CDKN1C [HSA:1028] [KO:K09993]
IGF2 [HSA:3481] [KO:K13769]
KCNQ1 [HSA:3784] [KO:K04926]
H00802 Ehlers-Danlos syndrome ... mutations in genes encoding the fibrillar collagens, or in genes coding for enzymes involved in the post-translational modification of these collagens. EDS can be classified into 13 subtypes: classical type (EDSCL) ... Congenital malformation (EDSCL1) COL5A1 [HSA:1289] [KO:K19721]
(EDSCL2) COL5A2 [HSA:1290] [KO:K19721]
(EDSCLL) TNXB [HSA:7148] [KO:K06252]
(EDSCLL2) AEBP1 [HSA:165] [KO:K21392]
H00858 Marie-Unna hereditary hypotrichosis ... disease. Responsive mutations are found in U2HR, an inhibitory upstream open reading frame in the 5'-untranslated region of the HR gene. Recently, a missense mutation of EPS8L3 in MUHH has been identified. Congenital malformation (MUHH1) HR [HSA:55806] [KO:K00478]
(MUHH2) EPS8L3 [HSA:79574] [KO:K17277]
H00869 Leukoencephalopathy with vanishing white matter
Vanishing white matter disease
Childhood ataxia with diffuse central nervous system hypomyelination (CACH)
Cree leukoencephalopathy (CLE) 		... mental abilities. Nearly all patients have mutations in any of the 5 genes encoding the eukaryotic translation initiation factor eIF2B. Mutated eIF2B could impair the ability of cells to regulate protein ... Nervous system disease (VWM1) EIF2B1 [HSA:1967] [KO:K03239]
(VWM2) EIF2B2 [HSA:8892] [KO:K03754]
(VWM3) EIF2B3 [HSA:8891] [KO:K03241]
(VWM4) EIF2B4 [HSA:8890] [KO:K03680]
(VWM5) EIF2B5 [HSA:8893] [KO:K03240]
H00891 Combined oxidative phosphorylation deficiency ... severe antenatal-onset infantile disease. The patients with COXPD caused by mutations in mitochondrial translation elongation factor genes (GFM1, GFM2, TUFM, TSFM and C12orf65) have also been reported. Inherited metabolic disorder, Mitochondrial disease (COXPD1) GFM1 [HSA:85476] [KO:K02355]
(COXPD2) MRPS16 [HSA:51021] [KO:K02959]
(COXPD3) TSFM [HSA:10102] [KO:K02357]
(COXPD4) TUFM [HSA:7284] [KO:K02358]
(COXPD5) MRPS22 [HSA:56945] [KO:K17401]
(COXPD6) AIFM1 [HSA:9131] [KO:K04727]
(COXPD7) MTRFR [HSA:91574] [KO:K23498]
(COXPD8) AARS2 [HSA:57505] [KO:K01872]
(COXPD9) MRPL3 [HSA:11222] [KO:K02906]
(COXPD10) MTO1 [HSA:25821] [KO:K03495]
(COXPD11) RMND1 [HSA:55005] [KO:K23499]
(COXPD12) EARS2 [HSA:124454] [KO:K01885]
(COXPD13) PNPT1 [HSA:87178] [KO:K00962]
(COXPD14) FARS2 [HSA:10667] [KO:K01889]
(COXPD15) MTFMT [HSA:123263] [KO:K00604]
(COXPD16) MRPL44 [HSA:65080] [KO:K17425]
(COXPD17) ELAC2 [HSA:60528] [KO:K00784]
(COXPD18) SFXN4 [HSA:119559] [KO:K23502]
(COXPD19) LYRM4 [HSA:57128] [KO:K22069]
(COXPD20) VARS2 [HSA:57176] [KO:K01873]
(COXPD21) TARS2 [HSA:80222] [KO:K01868]
(COXPD22) ATP5F1A [HSA:498] [KO:K02132]
(COXPD23) GTPBP3 [HSA:84705] [KO:K03650]
(COXPD24) NARS2 [HSA:79731] [KO:K01893]
(COXPD25) MARS2 [HSA:92935] [KO:K01874]
(COXPD26) TRMT5 [HSA:57570] [KO:K15429]
(COXPD27) CARS2 [HSA:79587] [KO:K01883]
(COXPD28) SLC25A26 [HSA:115286] [KO:K15111]
(COXPD29) TXN2 [HSA:25828] [KO:K03671]
(COXPD30) TRMT10C [HSA:54931] [KO:K17654]
(COXPD31) MIPEP [HSA:4285] [KO:K01410]
(COXPD32) MRPS34 [HSA:65993] [KO:K17412]
(COXPD33) C1QBP [HSA:708] [KO:K15414]
(COXPD34) MRPS7 [HSA:51081] [KO:K02992]
(COXPD35) TRIT1 [HSA:54802] [KO:K00791]
(COXPD36) MRPS2 [HSA:51116] [KO:K02967]
(COXPD37) MICOS13 [HSA:125988] [KO:K24624]
(COXPD38) MRPS14 [HSA:63931] [KO:K02954]
(COXPD39) GFM2 [HSA:84340] [KO:K02355]
(COXPD40) QRSL1 [HSA:55278] [KO:K02433]
(COXPD41) GATB [HSA:5188] [KO:K02434]
(COXPD42) GATC [HSA:283459] [KO:K02435]
(COXPD43) TIMM22 [HSA:29928] [KO:K17790]
(COXPD44) FASTKD2 [HSA:22868] [KO:K18190]
(COXPD45) MRPL12 [HSA:6182] [KO:K02935]
(COXPD46) MRPS23 [HSA:51649] [KO:K17402]
(COXPD47) MRPS28 [HSA:28957] [KO:K17407]
(COXPD48) NSUN3 [HSA:63899] [KO:K21969]
(COXPD49) MIEF2 [HSA:125170] [KO:K23507]
(COXPD50) MRPS25 [HSA:64432] [KO:K17404]
(COXPD51) PTCD3 [HSA:55037] [KO:K17659]
(COXPD52) NFS1 [HSA:9054] [KO:K04487]
(COXPD53) C2orf69 [HSA:205327]
(COXPD54) PRORP [HSA:9692] [KO:K17655]
(COXPD55) POLRMT [HSA:5442] [KO:K10908]
(COXPD56) TAMM41 [HSA:132001] [KO:K17807]
(COXPD57) CRLS1 [HSA:54675] [KO:K08744]
(COXPD58) TEFM [HSA:79736] [KO:K17658]
(COXPD59) MRPL39 [HSA:54148] [KO:K17420]
H00994 Familial skewed X-chromosome inactivation ... of skewing is predisposing to genetic diseases such as hemophilia A. The key player is the X inactivation-specific transcript (XIST), an X-linked untranslated RNA that coats the inactive X-chromosome. Chromosomal abnormality
H01101 Combined lipase deficiency ... factor 1 (LMF1). LMF1 is a chaperone of the endoplasmic reticulum and it is required for the post-translational activation of three vascular lipases, lipoprotein lipase, hepatic lipase and endothelial lipase Inherited metabolic disorder LMF1 [HSA:64788] [KO:K23555]
H01296 Hereditary neuropathy with liability to pressure palsies ... PMP22 is duplicated in Charcot-Marie-Tooth disease type 1A (CMT1A). The other identified underlying genetic defects in HNPP are point mutations in PMP22 that lead to premature or delayed translation. Nervous system disease PMP22 [HSA:5376] [KO:K19289]
H01306 FRA12A mental retardation ... a rare form of mental retardation caused by expansion of CGG repeat. This repeat is in the 5' untranslated region of the gene DIP2B. It has been suggested that deficiency of DIP2B, a brain-expressed gene ... Mental and behavioural disorder DIP2B [HSA:57609] [KO:K24908]
H01315 Erysipeloid
Swine erysipelas 		... principally as a result of contact with animals, and mainly found in animal breeders, veterinarians, slaughterhouse workers, and other occupations. Non-occupational cases are very rare. Three forms of human ... Bacterial infectious disease
H01344 Nijmegen breakage syndrome ... predisposition. Due to a founder mutation in the NBN gene, the disease is encountered most frequently among Slavic populations. Recently, a disease due to RAD50 deficiency has been reported. The patient displayed ... Immune system disease (NBS) NBN (Nibrin) [HSA:4683] [KO:K10867]
(NBSLD) RAD50 [HSA:10111] [KO:K10866]
H01353 Chromobacterium violaceum infection ... abscess and diarrhea. Recent findings indicate that the type III secretion system (T3SS) encoded by Chromobacterium pathogenicity islands 1 and 1a (Cpi-1/-1a) is critical for C. violaceum pathogenesis. Bacterial infectious disease
H01538 Hendra virus infection ... Paramyxoviridae. HeV is a zoonotic virus that emerged in 1994 in the Brisbane suburb of Hendra, Queensland, Australia. HeV causes severe respiratory and neurological disease. The known natural reservoir ... Viral infectious disease
H01568 3C syndrome
Ritscher-Schinzel syndrome
Craniocerebellocardiac dysplasia 		... abnormalities seen are cleft palate, ocular coloboma, prominent occiput, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge, and micrognathia. The phenotypic manifestations ... Congenital malformation (RTSC1) WASHC5 [HSA:9897] [KO:K18464]
(RTSC2) CCDC22 [HSA:28952] [KO:K23343]
(RTSC3) VPS35L [HSA:57020] [KO:K25731]
(RTSC4) DPYSL5 [HSA:56896] [KO:K07529]
H01745 Cardiofaciocutaneous syndrome ... a generalized ichthyosis-like condition. Typical facial characteristics include high forehead, down-slanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears. CFC can be caused ... Congenital malformation (CFC1) BRAF [HSA:673] [KO:K04365]
(CFC2) KRAS [HSA:3845] [KO:K07827]
(CFC3) MAP2K1 [HSA:5604] [KO:K04368]
(CFC4) MAP2K2 [HSA:5605] [KO:K04369]
H01861 Chromosome 15q24 microdeletion syndrome
Witteveen-Kolk syndrome 		... facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depressed nasal bridge, small ... Chromosomal abnormality SIN3A [HSA:25942] [KO:K11644]
H01879 Wiedemann-Steiner syndrome ... disorder characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre- and post-natal growth deficiency, and psychomotor ... Congenital malformation KMT2A [HSA:4297] [KO:K09186]
H01917 CK syndrome ... microcephaly, cerebral cortical malformations, and a thin body habitus. Distinctive features include down slanting palpebral fissures, a high nasal bridge, a high arched palate, micrognathia, and short stature ... Congenital malformation NSDHL [HSA:50814] [KO:K07748]
H01923 Microcephaly, short stature, and impaired glucose metabolism ... the tissues affected in this syndrome. It has also been reported that mutation in the eukaryotic translation initiation factor 2 alpha (eIF2a) phosphatase gene, PPP1R15B, is associated with these symptoms Congenital malformation (MSSGM1) TRMT10A [HSA:93587] [KO:K15445]
(MSSGM2) PPP1R15B [HSA:84919] [KO:K17558]
H02195 MEHMO syndrome ... and obesity. It has been reported that MEHMO syndrome is associated with mutations in the X chromosome gene EIF2S3. EIF2S3 encodes the subunit of the eukaryotic translation initiation factor 2 (eIF2). Congenital malformation EIF2S3 [HSA:1968] [KO:K03242]
H02448 Harel-Yoon syndrome ... caused by mutations in ATAD3A, encoding a mitochondrial membrane protein. ATAD3A is implicated in mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. Nervous system disease ATAD3A [HSA:55210] [KO:K17681]
H02503 Richieri-Costa-Pereira syndrome ... stature, Robin sequence, cleft mandible, and limb anomalies. This disorder is caused by decreased levels of EIF4A3, mostly due to an increased number of repeats at the 5'untranslated region (UTR) of EIF4A3. Congenital malformation EIF4A3 [HSA:9775] [KO:K13025]
H02651 Lessel-Kreienkamp syndrome ... Argonaute family of proteins. AGO2 and associated miRNAs form the RNA-induced silencing complex (RISC), which targets mRNAs for translational silencing and degradation as part of the RNA interference pathway. Congenital malformation AGO2 [HSA:27161] [KO:K11593]
H02653 Faundes-Banka syndrome ... micrognathia and dysmorphism. Mutations in EIF5A cause this disease. EIF5A encodes the eukaryotic translation factor 5A (eIF5A) that plays a pivotal role during translation. It is the only cellular protein ... Congenital malformation EIF5A [HSA:1984] [KO:K03263]
H02741 Childhood-onset neurodegeneration with cerebellar ataxia and cognitive decline ... gain-of-function mutation in CAPRIN1. CAPRIN1 is a ubiquitously expressed protein, abundant in the brain, where it regulates the transport and translation of mRNAs of genes involved in synaptic plasticity. Nervous system disease (CONDCAC) CAPRIN1 [HSA:4076] [KO:K18743]
H02752 Tan-Almurshedi syndrome ... microcephaly, short stature, and craniofacial anomalies. It has been reported that mutations in DRG1 cause this syndrome. DRG1 is a human GTPase that associates with polysomes, playing a role in translation. Congenital malformation DRG1 [HSA:4733] [KO:K06944]
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