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Entry Name Description Category Pathway Gene
H02272 CAPOS syndrome ... loss (CAPOS) syndrome is a rare autosomal dominant neurological disorder. CAPOS is characterized by a relapsing, early onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural ... Congenital malformation ATP1A3 [HSA:478] [KO:K01539]
H02281 Isolated anhidrosis with normal sweat glands
Dann-Epstein-Sohar syndrome 		... very rare autosomal recessive anhidrosis. A homozygous missense mutation in ITPR2 has been identified in all affected family members. ITPR2 encodes a Ca2+ release channel in the endoplasmic reticulum. Skin disease ITPR2 [HSA:3709] [KO:K04959]
H02305 RERE-related neurodevelopmental syndrome
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 		RERE-related neurodevelopmental syndrome, also known as neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH), is a rare autosomal dominant disorder. Patients with ... Mental and behavioural disorder RERE [HSA:473] [KO:K05628]
H02316 Adrenal insufficiency, NR5A1 related ... them were originally identified in patients with adrenal insufficiency. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46 ... Endocrine and metabolic disease NR5A1 [HSA:2516] [KO:K08560]
H02358 Arthrogryposis multiplex congenita, neurogenic, with myelin defect ... nerve myelination via its cognate receptor ADAM22 expressed by neurons. The phenotypic spectrum of LGI4-related AMC varies from a most severe form with intrauterine onset resulting in utero death or termination ... Nervous system disease LGI4 [HSA:163175] [KO:K25430]
H02360 Epileptic encephalopathy, childhood-onset Epileptic encephalopathy, childhood-onset (EEOC) is CHD2-related neurodevelopmental disorder, inherited in an autosomal dominant manner. It is characterized by refractory seizures and cognitive slowing ... Nervous system disease CHD2 [HSA:1106] [KO:K20091]
H02375 Cardiac valvular dysplasia ... valvular dysplasia (CVDP) is non-syndromic severe congenital valve malformation. The identification of loss-of-function mutations in the PLD1 gene in two unrelated families with CVDP has been reported. Congenital malformation (CVDP1) PLD1 [HSA:5337] [KO:K01115]
(CVDP2) ADAMTS19 [HSA:171019] [KO:K08633]
H02385 Eumycetoma ... (actinomycetoma [DS:H01451]) or fungi (eumycetoma). It is endemic in tropical and subtropical regions. Madurella mycetomatis, Madurella grisae, and Scedosporium apiospermum are the most common causative agents ... Fungal infectious disease
H02448 Harel-Yoon syndrome Harel-Yoon syndrome (HAYOS) is a neurological syndrome characterized by global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. It has been reported that ... Nervous system disease ATAD3A [HSA:55210] [KO:K17681]
H02481 Syndromic disorder with short stature ... components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH) or to underlying unknown pathologies. Several underlying genetic causes ... Congenital malformation (SAMS) GSC [HSA:145258] [KO:K09324]
(SBIDDS) PRMT7 [HSA:54496] [KO:K11438]
(SIMHA) ZNF407 [HSA:55628] [KO:K26729]
(SOFT) POC1A [HSA:25886] [KO:K16482]
(SOFM) POLR3GL [HSA:84265] [KO:K03024]
(SOPH) NBAS [HSA:51594] [KO:K20473]
(SRMMD) ARCN1 [HSA:372] [KO:K20471]
(SSASKS) SLC10A7 [HSA:84068] [KO:K14347]
(SSFSC1) BMP2 [HSA:650] [KO:K21283]
(SSFSC2) SCUBE3 [HSA:222663] [KO:K24468]
H02526 Disorders of adaptive immunity T cells and B cells are the primary cells of the adaptive immune system. B cells mediate antibody production and play a major role in antibody-mediated immunity. T cells govern cell-mediated immune responses ... Immune system disease (IMD13) UNC119 [HSA:9094] [KO:K23539]
(IMD41) IL2RA [HSA:3559] [KO:K05068]
(IMD46) TFRC [HSA:7037] [KO:K06503]
(IMD52) LAT [HSA:27040] [KO:K07362]
(IMD53) RELB [HSA:5971] [KO:K09253]
(IMD56) IL21R [HSA:50615] [KO:K05075]
(IMD60) BACH2 [HSA:60468] [KO:K09042]
(IMD62) ARHGEF1 [HSA:9138] [KO:K12330]
(IMD64) RASGRP1 [HSA:10125] [KO:K04350]
(IMD66) MRTFA [HSA:57591] [KO:K22525]
(IMD70) IVNS1ABP [HSA:10625] [KO:K15046]
(IMD72) NCKAP1L [HSA:3071] [KO:K05750]
(IMD76) FCHO1 [HSA:23149] [KO:K20042]
(IMD78) TPP2 [HSA:7174] [KO:K01280]
(IMD79) CD4 [HSA:920] [KO:K06454]
(IMD81) LCP2 [HSA:3937] [KO:K07361]
(IMD82) SYK [HSA:6850] [KO:K05855]
(IMD84) IKZF3 [HSA:22806] [KO:K09220]
(IMD86) SPPL2A [HSA:84888] [KO:K09596]
(IMD87) DEF6 [HSA:50619] [KO:K20072]
(IMD88) TBX21 [HSA:30009] [KO:K10166]
(IMD89) CARD10 [HSA:29775] [KO:K20912]
(IMD92) REL [HSA:5966] [KO:K09254]
(IMD93) FNIP1 [HSA:96459] [KO:K20400]
(IMD99) CTNNBL1 [HSA:56259] [KO:K12864]
H02530 Hereditary prostate cancer ... history of prostate cancer and includes those families with either: three or more affected first-degree relatives, prostate cancer diagnosed in three successive generations of the same lineage, or two first-degree ... Cancer (HPC1) RNASEL [HSA:6041] [KO:K01165]
(HPC2) ELAC2 [HSA:60528] [KO:K00784]
(HPC9) HOXB13 [HSA:10481] [KO:K09298]
(HPC12) EHBP1 [HSA:23301] [KO:K25572]
(HPC13) MSMB [HSA:4477] [KO:K25684]
H02555 Muckle-Wells syndrome ... conjunctivitis, and sensorineural hearing loss. In MWS, NLRP3 gene mutations are associated with excessive interleukin-1 release. MWS is part of a spectrum of cryopyrin-associated periodic syndrome (CAPS). Immune system disease NLRP3 [HSA:114548] [KO:K12800]
H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related Pulmonary fibrosis and/or bone marrow failure, telomere-related (PFBMFT) is also known as human telomere biology disorders, or short telomere syndromes. PFBMFT is a group of hereditary disorders caused ... Hematologic disease (PFBMFT1) TERT [HSA:7015] [KO:K11126]
(PFBMFT2) TERC [HSA:7012] [KO:K22183]
(PFBMFT3) RTEL1 [HSA:51750] [KO:K11136]
(PFBMFT4) PARN [HSA:5073] [KO:K01148]
(PFBMFT5) ZCCHC8 [HSA:55596] [KO:K13128]
(PFBMFT6) RPA1 [HSA:6117] [KO:K07466]
(PFBMFT7) NAF1 [HSA:92345] [KO:K14763]
(PFBMFT8) POT1 [HSA:25913] [KO:K11109]
(PFBMFT9) NOP10 [HSA:55505] [KO:K11130]
H02593 Chronic mucocutaneous ulceration ... characterized by oral and gastrointestinal ulcerations, cytopenias, and lymphoproliferative disease. It has been reported that a heterozygous mutation in RELA, encoding the NF-kB subunit RelA, causes CMCU. Immune system disease RELA [HSA:5970] [KO:K04735]
H02601 Pulmonary arterial sling
Vascular sling 		Pulmonary arterial sling (PAS) is a relatively rare congenital anomaly in which left pulmonary artery branch originates abnormally from the right pulmonary artery, eventually resulting with respiratory ... Congenital malformation
H02631 Melorheostosis ... asymmetric bone overgrowth and functional impairment. Recent studies indicate that most cases arise from somatic MAP2K1 mutations although a small number may arise from other genes in related pathways. Musculoskeletal disease MAP2K1 [HSA:5604] [KO:K04368]
H02632 PP2A-related neurodevelopmental disorder Protein Phosphatase type 2A (PP2A) enzymes play essential regulatory roles in cellular signalling and physiology, including in brain function and development. It has been known for decades that PP2A dysregulation ... Congenital malformation (NEDLBA) PPP2CA [HSA:5515] [KO:K04382]
(MRD35) PPP2R5D [HSA:5528] [KO:K11584]
(MRD36) PPP2R1A [HSA:5518] [KO:K03456]
H02642 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis ... splicing mutation in IGFBP7. Recently, two major biological functions have emerged for IGFBP7. The first is related to its tumor suppressor action by blocking the BRAF-MEK-ERK signaling. The second is related ... Nervous system disease IGFBP7 [HSA:3490] [KO:K23580]
H02646 Malignant hyperthermia ... most often associated with the administration of volatile general anesthetic agents and/or the muscle relaxant succinylcholine. MH is likely to be fatal if untreated. In most cases, MH is caused by a defect ... Musculoskeletal disease (MHS1) RYR1 [HSA:6261] [KO:K04961]
(MHS5) CACNA1S [HSA:779] [KO:K04857]
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]
H02657 Sarcosinemia Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine. Sarcosinemia has a varied phenotypic presentation. In rare cases, it ... Inherited metabolic disorder SARDH [HSA:1757] [KO:K00314]
H02666 Chilton-Okur-Chung neurodevelopmental syndrome ... has been reported that mutations in CDC42BPB cause this syndrome. CDC42BPB encodes myotonic dystrophy-related Cdc42-binding kinase beta (MRCKB), which plays an important role in the regulation of cytoskeletal ... Congenital malformation CDC42BPB [HSA:9578] [KO:K16307]
H02677 Progeroid laminopathy ... molecular features of aging. It can be caused by mutations in the A-type lamin gene (LMNA), altering prelamin A itself, or in ZMPSTE24, encoding an endoprotease involved in its processing. Apart from some ... Congenital malformation LMNA [HSA:4000] [KO:K12641]
ZMPSTE24 [HSA:10269] [KO:K06013]
H02679 Miura-type epiphyseal chondrodysplasia ... scoliosis, coxa valga, and slipped capital femoral epiphysis. The disease is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13 and relates to defective natriuretic peptide signaling pathway. Congenital malformation NPR2 [HSA:4882] [KO:K12324]
H02692 Usmani-Riazuddin syndrome ... has been reported that mutations in AP1G1 cause this disease. AP1G1 encodes gamma-1 subunit of adaptor-related protein complex 1. Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking ... Nervous system disease AP1G1 [HSA:164] [KO:K12391]
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