Search Result

 Top
1 to 28 of 28
Entry Name Description Category Pathway Gene
H00085 Agammaglobulinemias ... characterized by the onset of recurrent bacterial infections in the first 5 years of life, profound hypogammaglobulinemia, markedly reduced or absent B cells in the peripheral circulation, and (in the bone ... Immune system disease (AGMX1) BTK [HSA:695] [KO:K07370]
(AGMX2) SH3KBP1 [HSA:30011] [KO:K12470]
(AGM2) IGLL1 [HSA:3543] [KO:K06554]
(AGM3) CD79A [HSA:973] [KO:K06506]
(AGM4) BLNK [HSA:29760] [KO:K07371]
(AGM5) LRRC8A [HSA:56262] [KO:K22038]
(AGM6) CD79B [HSA:974] [KO:K06507]
(AGM7) PIK3R1 [HSA:5295] [KO:K02649]
(AGM8A/8B) TCF3 [HSA:6929] [KO:K09063]
(AGM9) SLC39A7 [HSA:7922] [KO:K14713]
(AGM10) SPI1 [HSA:6688] [KO:K09438]
H00087 Other humoral immunodeficiencies ... with mutations in the DNA methyltransferase 3B gene (DNMT3B) in 75% of cases. Patients have variable hypogammaglobulinemia but typically have profound reduction or absence of two or more Ig isotypes. This ... Immune system disease DNMT3B [HSA:1789] [KO:K17399]
IGKC
Ig heavy chain
H00088 Common variable immunodeficiency ... defects), and (c) common variable immunodeficiency (CVID). Category (c) CVID, also called acquired hypogammaglobulinemia, adult-onset hypogammaglobulinemia, or dysgammaglobulinemia, is a heterogeneous group ... Immune system disease (CVID1) ICOS [HSA:29851] [KO:K06713]
(CVID2) TNFRSF13B [HSA:23495] [KO:K05150]
(CVID3) CD19 [HSA:930] [KO:K06465]
(CVID4) TNFRSF13C [HSA:115650] [KO:K05151]
(CVID5) MS4A1 [HSA:931] [KO:K06466]
(CVID6) CD81 [HSA:975] [KO:K06508]
(CVID7) CR2 [HSA:1380] [KO:K04012]
(CVID8) LRBA [HSA:987] [KO:K24181]
(CVID10) NFKB2 [HSA:4791] [KO:K04469]
(CVID11) IL21 [HSA:59067] [KO:K05434]
(CVID12) NFKB1 [HSA:4790] [KO:K02580]
(CVID13) IKZF1 [HSA:10320] [KO:K09220]
(CVID14) IRF2BP2 [HSA:359948] [KO:K27448]
(CVID15) SEC61A1 [HSA:29927] [KO:K10956]
H00097 WHIM syndrome WHIM (an acronym for warts, hypogammaglobulinemia, infections and myelokathexis, a form of neutropenia) syndrome is a congenital immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia ... Primary immunodeficiency (WHIMS1) CXCR4 [HSA:7852] [KO:K04189]
(WHIMS2) CXCR2 [HSA:3579] [KO:K05050]
H00101 Other phagocyte defects ... is characterized by partial albinism, hepatosplenomegaly, progressive neurological deterioration, hypogammaglobulinemia and pancytopenia. Abnormal-beta-actin disease accompanies neutrophil chemotactic dysfunction ... Primary immunodeficiency
H00107 Other well-defined immunodeficiency syndromes ... immunodeficiency, with manifestations ranging from fatal infectious mononucleosis to B cell lymphomas and hypogammaglobulinemia. Mutations in the X-linked inhibitor of apoptosis (XIAP) as well as in a distinct ... 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]
H00117 Primary hyperoxaluria Primary hyperoxaluria (PH) is an autosomal recessive disorder characterized by the overproduction of oxalate. Inherited metabolic disorder (HP1) AGXT [HSA:189] [KO:K00830]
(HP2) GRHPR [HSA:9380] [KO:K00049]
(HP3) HOGA1 [HSA:112817] [KO:K18123]
H00151 Cerebrotendinous xanthomatosis
Van Bogaert-Scherer-Epstein Disease 		Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by deficient activity of CYP27A1 and characterized by formation of xanthomatous lesions in many tissues, particularly ... Inherited metabolic disorder CYP27A1 [HSA:1593] [KO:K00488]
H00395 Rubella ... also known as German measles, is an infection caused by the rubella virus in the Rubivirus genus, the Togaviridae family of +ssRNA viruses. Congenital rubella syndrome can occur in a developing baby when ... Viral infectious disease
H00397 Ross River fever Ross River fever is an infectious disease caused by Ross River virus (RRV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes and Culex mosquitoes. RRV was first isolated ... Viral infectious disease
H00530 Joubert syndrome and related disorders Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. ... Congenital malformation (JBTS1) INPP5E [HSA:56623] [KO:K20278]
(JBTS2) TMEM216 [HSA:51259] [KO:K19385]
(JBTS3) AHI1 [HSA:54806] [KO:K16740]
(JBTS4) NPHP1 [HSA:4867] [KO:K19657]
(JBTS5) CEP290 [HSA:80184] [KO:K16533]
(JBTS6) TMEM67 [HSA:91147] [KO:K19348]
(JBTS7) RPGRIP1L [HSA:23322] [KO:K16550]
(JBTS8) ARL13B [HSA:200894] [KO:K07962]
(JBTS9) CC2D2A [HSA:57545] [KO:K19352]
(JBTS10) OFD1 [HSA:8481] [KO:K16480]
(JBTS11) TTC21B [HSA:79809] [KO:K19673]
(JBTS12) KIF7 [HSA:374654] [KO:K18806]
(JBTS13) TCTN1 [HSA:79600] [KO:K19382]
(JBTS14) TMEM237 [HSA:65062] [KO:K22765]
(JBTS15) CEP41 [HSA:95681] [KO:K16455]
(JBTS16) TMEM138 [HSA:51524] [KO:K22867]
(JBTS17) CPLANE1 [HSA:65250] [KO:K22859]
(JBTS18) TCTN3 [HSA:26123] [KO:K19382]
(JBTS19) ZNF423 [HSA:23090] [KO:K22870]
(JBTS20) TMEM231 [HSA:79583] [KO:K19362]
(JBTS21) CSPP1 [HSA:79848] [KO:K16771]
(JBTS22) PDE6D [HSA:5147] [KO:K13758]
(JBTS23) JBTS23 [HSA:9786] [KO:K22865]
(JBTS24) TCTN2 [HSA:79867] [KO:K19361]
(JBTS25) CEP104 [HSA:9731] [KO:K16458]
(JBTS26) KATNIP [HSA:23247] [KO:K22858]
(JBTS27) B9D1 [HSA:27077] [KO:K16744]
(JBTS28) MKS1 [HSA:54903] [KO:K19332]
(JBTS29) TMEM107 [HSA:84314] [KO:K22764]
(JBTS30) ARMC9 [HSA:80210] [KO:K22864]
(JBTS31) CEP120 [HSA:153241] [KO:K16459]
(JBTS32) SUFU [HSA:51684] [KO:K06229]
(JBTS33) PIBF1 [HSA:10464] [KO:K16538]
(JBTS34) B9D2 [HSA:80776] [KO:K16745]
(JBTS35) ARL3 [HSA:403] [KO:K07944]
(JBTS36) FAM149B1 [HSA:317662] [KO:K24653]
(JBTS37) TOGARAM1 [HSA:23116] [KO:K24886]
(JBTS38) JBTS38 [HSA:9851] [KO:K21765]
(JBTS39) TMEM218 [HSA:219854] [KO:K26674]
(JBTS40) IFT74 [HSA:80173] [KO:K19679]
H01221 Epithelial basement membrane corneal dystrophy
Cogan microcystic epithelial dystrophy
Map-dot-fingerprint dystrophy 		Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy. There is usually no hereditary pattern, but some cases presented with an autosomal dominant inheritance ... Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H01390 Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE Syndrome 		Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine ... Inherited metabolic disorder, Mitochondrial disease TYMP [HSA:1890] [KO:K00758]
RRM2B [HSA:50484] [KO:K10808]
POLG [HSA:5428] [KO:K02332]
LIG3 [HSA:3980] [KO:K10776]
H01534 Western equine encephalitis ... the central nervous system caused by Western equine encephalitis virus (WEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. WEEV was first isolated in ... Viral infectious disease
H01535 Eastern equine encephalitis ... the central nervous system caused by Eastern equine encephalitis virus (EEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. EEEV was first isolated in ... Viral infectious disease
H01540 Chikungunya fever Chikungunya fever is an infectious disease caused by Chikungunya virus (CHIKV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. CHIKV was first recognized ... Viral infectious disease
H01545 O'nyong-nyong fever O'nyong-nyong fever is an infectious disease caused by O'nyong-nyong virus (ONNV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Anopheles mosquitoes. ONNV was first isolated ... Viral infectious disease
H01546 Mayaro fever Mayaro fever is an infectious disease caused by Mayaro virus (MAYV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Haemagogus mosquitoes. MAYV was first isolated in 1954 ... Viral infectious disease
H01547 Venezuelan equine encephalitis ... central nervous system caused by Venezuelan equine encephalitis virus (VEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Ochlerotatus mosquitoes. VEEV was first isolated ... Viral infectious disease
H01801 Kagami-Ogata syndrome
Paternal uniparental disomy 14 		... affecting the IG-DMR and/or the MEG3-DMR, result in paternal uniparental disomy 14 like phenotype. Recently, the name 'Kagami-Ogata syndrome' has been approved for this clinically recognizable disorder. Chromosomal abnormality
H01871 Isolated hypoganglionosis Isolated hypoganglionosis (IHG) is an innervation disorder that provides diagnostic and management challenges secondary to ill-defined diagnostic criteria. The symptoms of IHG resemble classical Hirschsprung ... Digestive system disease
H01969 X-linked lymphoproliferative syndrome
Duncan disease 		... syndrome (XLP) is a rare, inherited immunodeficiency that is characterized by lymphohystiocytosis, hypogammaglobulinaemia and lymphomas, and that usually develops in response to infection with Epstein-Barr ... Primary immunodeficiency (XLP1) SH2D1A [HSA:4068] [KO:K07990]
(XLP2) XIAP [HSA:331] [KO:K04725]
H01970 Lymphoproliferative syndrome ... mutations were identified as the cause for this disease. Common immunological features are a progressive hypogammaglobulinemia and a progressive loss of CD4+ T cells with a declining proportion of naive T cells Primary immunodeficiency (LPFS1) ITK [HSA:3702] [KO:K07363]
(LPFS2) CD27 [HSA:939] [KO:K05144]
(LPFS3) CD70 [HSA:970] [KO:K05470]
H02308 Immunodeficiency-centromeric instability-facial anomalies syndrome ... characterized by recurrent and often fatal respiratory and gastrointestinal infections as a consequence of hypogammaglobulinemia in the presence of B cells. Nearly all patients also present with distinct facial ... Immune system disease (ICF1) DNMT3B [HSA:1789] [KO:K17399]
(ICF2) ZBTB24 [HSA:9841] [KO:K10503]
(ICF3) CDCA7 [HSA:83879] [KO:K23408]
(ICF4) HELLS [HSA:3070] [KO:K19001]
H02406 Syngamosis Syngamosis is a quite rare infectious disease caused by nematodes of the genus Mammomonogamus. Mammomonogamus laryngeus is the most common agent of human syngamosis. It was first demonstrated in 1899. ... Parasitic infectious disease
H02540 Infantile-onset multisystem autoimmune disease Infantile-onset multisystem autoimmune disease (ADMIO) is typified by hypogammaglobulinemia and onset of autoimmune phenomena during early childhood that include diabetes and autoimmune enteritis. Immune system disease (ADMIO1) STAT3 [HSA:6774] [KO:K04692]
(ADMIO2) ZAP70 [HSA:7535] [KO:K07360]
(ADMIO3) CBLB [HSA:868] [KO:K22517]
H02625 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome ... clinical features for individuals with PRIM1 deficiency, particularly early childhood mortality. This might be accounted for by the significant B-cell lymphopenia and accompanying hypogammaglobulinemia. Congenital malformation PRIM1 [HSA:5557] [KO:K02684]
H02747 Oculogastrointestinal neurodevelopmental syndrome Oculogastrointestinal neurodevelopmental syndrome (OGIN) is a syndrome of congenital malformations and developmental delay caused by mutations in CAPN15. Clinical features include microcephaly, global ... Congenital malformation CAPN15 [HSA:8449] [KO:K12813]
1 to 28 of 28
[ KEGG | DISEASE | DRUG | MEDICUS ]