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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00869 |
Leukoencephalopathy with vanishing white matter Vanishing white matter disease Childhood ataxia with diffuse central nervous system hypomyelination (CACH) Cree leukoencephalopathy (CLE) |
Leukoencephalopathy with vanishing white matter (VWM), also referred to as childhood ataxia with diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood ... | 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] |
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| H00877 | Brain small vessel disease | Brain small vessel disease (BSVD) cause lacunar infarcts, cerebral microbleeds, or diffuse white matter diseases. Approximately 5% of BSVDs are considered hereditary, with an extremely young age of onset ... | Cardiovascular disease |
(BSVD1) COL4A1 [HSA:1282] [KO:K06237] (BSVD2) COL4A2 [HSA:1284] [KO:K06237] (BSVD3) COLGALT1 [HSA:79709] [KO:K11703] |
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| H00935 | Cold-induced sweating syndrome | ... in an autosomal recessive manner. Mutations in CRLF1 account for about 90% and mutations in CLCF1 account for about 10% of CISS. CISS is characterized by profuse sweating induced by cool surroundings. | Congenital malformation |
(CISS1) CRLF1 [HSA:9244] [KO:K24481] (CISS2) CLCF1 [HSA:23529] [KO:K05421] (CISS3) KLHL7 [HSA:55975] [KO:K10445] |
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| H00953 |
Gelatinous drop-like corneal dystrophy Corneal amyloidosis |
... decade of life. Clinical symptoms include photophobia, foreign body sensation, and decreased vision. Fusiform deposits similar to those in lattice corneal dystrophy [DS:H00956] may also form in the deeper ... | Nervous system disease | TACSTD2 [HSA:4070] [KO:K17288] | |
| H00959 |
Schnyder corneal dystrophy Schnyder crystalline corneal dystrophy (SCCD) Crystalline stromal dystrophy Schnyder crystalline dystrophy sine crystals |
... stroma. Over time, an initially unremarkable corneal stroma acquires small white opacities and a diffuse haze. In approximately 50% of cases, crystals are not evident clinically (Schnyder crystalline dystrophy ... | Nervous system disease | UBIAD1 [HSA:29914] [KO:K00810] | |
| H00969 | Skeletal defects, genital hypoplasia, and mental retardation | ... hypoplasia of the radius and ulna, and additional vertebral bodies and ribs. The causative gene is ZBTB16, one of the fusion partners with retinoic acid receptor-alpha in acute promyelocytic leukemia. | Congenital malformation | ZBTB16 [HSA:7704] [KO:K10055] | |
| H00979 |
Sacral defect with anterior meningocele Caudal regression syndrome |
... genitourinary anomalies. The most severe end of this spectrum is known as sirenomelia which is characterized by fused lower limbs. These are caused by developmental field defects of blastogenesis involving the caudal ... | Congenital malformation | VANGL1 [HSA:81839] [KO:K04510] | |
| H01039 | Ovarian hyperstimulation syndrome | ... acute fluid shift from the intravascular to the third space, which may result in ascites, pleural infusions, pericardial infusion, and even generalized edema. Majority of OHSS cases have been associated ... | Reproductive system disease | FSHR [HSA:2492] [KO:K04247] | |
| H01069 | Stenotrophomonas maltophilia infection | ... water content. In hospital environments, it is frequently found as a contaminant in many devices, infusion solutions, sterile water and is associated with hospital-acquired infections in patients with ... | Bacterial infectious disease | ||
| H01095 | Syndactyly | Syndactyly (SDTY) is the common hereditary limb malformations depicting the fusion of certain fingers and/or toes. At least nine non-syndromic syndactylies with additional sub-types have been characterized ... | Congenital malformation |
(SDTY2/5) HOXD13 [HSA:3239] [KO:K09298] (SDTY3) GJA1 [HSA:2697] [KO:K07372] (SDTY4) ZRS/LMBR1 [HSA:64327] [KO:K25217] (SDTY9) BHLHA9 [HSA:727857] [KO:K24145] |
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| H01231 | Biotin-thiamine-responsive basal ganglia disease | ... disease has its onset in childhood, and is characterized by episodic encephalopathy presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Symptoms disappear ... | Inherited metabolic disorder | SLC19A3 [HSA:80704] [KO:K14610] | |
| H01315 |
Erysipeloid Swine erysipelas |
... human disease have been recognized, including a mild cutaneous infection known as erysipeloid, a diffuse cutaneous form, and a serious although rare systemic complication with septicemia and endocarditis | Bacterial infectious disease | ||
| H01353 | Chromobacterium violaceum infection | ... symptoms in most of the cases with fatal results seem to be sepsis, multiple liver abscesses, and diffuse pustular dermatitis. Some studies have reported instances of untreated C. violaceum causing brain ... | Bacterial infectious disease | ||
| H01389 |
Alpers syndrome Alpers-Huttenlocher syndrome Diffuse cerebral sclerosis of Schilder Hepatocerebral degeneration of childhood Mitochondrial DNA depletion syndrome 4A |
Alpers syndrome is a rare mitochondrial disease associated with mutations in the POLG1 gene encoding the mitochondrial DNA polymerase gamma. Alpers syndrome affects children and young adults and is characterized ... | Inherited metabolic disorder, Mitochondrial disease | POLG [HSA:5428] [KO:K02332] | |
| H01408 | Periodontal disease | ... and other bacteria adhere to and colonize the tooth enamel and root surface. This sets the stage for Fusobacterium nucleatum to coaggregate with these early colonizers and to permit late colonizers, including ... | Bacterial infectious disease | ||
| H01410 | Anaerobic infection | ... important anaerobes are several genera of Gram-negative rods (Bacteroides, Prevotella, Porphyromonas, Fusobacterium and Bilophila). Among the Gram-positive anaerobes, there are cocci (primarily Peptostreptococcus) ... | Bacterial infectious disease | ||
| H01425 | Lysosomal storage disease | ... degradation of sphingomyelin, Wolman disease 3. Defects in protein degradation: Neuronal ceroid lipofuscinosis, Lysosomal cysteine protease deficiencies, Acid phosphatase deficiency 4. Defects in lysosomal ... | Inherited metabolic disorder | ||
| H01440 |
Acute necrotizing ulcerative gingivitis Vincent gingivitis Vincent angina Trench mouth |
... angina and Vincent gingivitis is an acute bacterial infection of the gingiva caused by spirochetes, fusiform bacteria, or an overgrowth of normal oral flora. Predisposing factors include poor oral hygiene ... | Bacterial infectious disease | ||
| H01492 |
Systemic sclerosis Systemic scleroderma |
... Nail-fold capillary, and serum autoantibody production. Systemic sclerosis can manifest as either the diffuse or the limited variant, distinguished by the degree and the extent of cutaneous sclerosis. A highly ... | Immune system disease; Skin disease | ||
| H01508 | Salivary gland cancer | ... common genetic alteration in MECs is a unique translocation t(11;19)(q21;p13) producing the MECT1-MAML2 fusion protein. This fusion transcript can activate transcription of targets in the Notch pathway. Epidermal ... | Cancer |
CRTC1-MAML2 (translocation) [HSA:23373 84441] [KO:K15309 K06061] MYB-NF1B (translocation) [HSA:4602] [KO:K09420] ETV6-NTRK3 (translocation) [HSA:4916] [KO:K05101] EGFR (overexpression) [HSA:1956] [KO:K04361] HER2 (overexpression) [HSA:2064] [KO:K05083] CDKN2A (deletion) [HSA:1029] [KO:K06621] |
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| H01516 |
Adult onset Still disease Adult Still disease |
... Complications of AOSD include transient pulmonary hypertension, macrophage activation syndrome, diffuse alveolar hemorrhage, thrombotic thrombocytopenic purpura and amyloidosis. Common laboratory abnormalities ... | Immune system disease | ||
| H01563 | HIV infection | ... reverse transcriptase inhibitors (NRTIs and NNRTIs), integrase inhibitors, protease inhibitors (PIs), fusion inhibitors (FIs), and coreceptor inhibitors. The advent of highly active antiretroviral therapy ... | Viral infectious disease | hsa05170 Human immunodeficiency virus 1 infection |
CCR5 (resistance) [HSA:1234] [KO:K04180] CCR2 (resistance) [HSA:729230] [KO:K04177] TLR3 (resistance) [HSA:7098] [KO:K05401] CXCL12 (resistance) [HSA:6387] [KO:K10031] CCL2 (resistance) [HSA:6347] [KO:K14624] CCL3 (resistance) [HSA:6348] [KO:K05408] CCL11 (resistance) [HSA:6356] [KO:K16597] IL10 (susceptibility) [HSA:3586] [KO:K05443] CD209 (susceptibility) [HSA:30835] [KO:K06563] HLA-C (susceptibility) [HSA:3107] [KO:K06751] CCL3L1 (susceptibility) [HSA:6349] [KO:K05408] IFNG (rapid progression) [HSA:3458] [KO:K04687] CX3CR1 (rapid progression) [HSA:1524] [KO:K04192] CXCR1 (slow progression) [HSA:3577] [KO:K04175] IL4R (slow progression) [HSA:3566] [KO:K05071] CCL5 (delayed/rapid progression) [HSA:6352] [KO:K12499] KIR3DL1 (delayed/rapid progression) [HSA:3811] [KO:K07980] |
| H01565 |
Wernicke encephalopathy Wernicke-Korsakoff syndrome |
... prolonged intravenous feeding. Most patients present with the triad of ophthalmoplegia, ataxia, and confusion. It can be associated with life-threatening complication like central pontine myelinolysis. When ... | Endocrine and metabolic disease | SLC19A2 [HSA:10560] [KO:K14610] | |
| H01573 | Zimmermann-Laband syndrome | ... is a rare craniofacial malformation syndrome with predominant intraoral involvement consisting in diffuse gingival fibromatosis of early onset. Most cases are sporadic, suggesting autosomal dominant inheritance ... | Congenital malformation |
(ZLS1) KCNH1 [HSA:3756] [KO:K04904] (ZLS2) ATP6V1B2 [HSA:526] [KO:K02147] (ZLS3) KCNN3 [HSA:3782] [KO:K04944] |
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| H01577 | Essential tremor | Essential tremor (ET) is a neurological disorder that is considered to be one of the most common adult-onset movement disorders. ET is typically characterized by rhythmic, involuntary shaking of one or ... | Nervous system disease |
(ETM1) DRD3 [HSA:1814] [KO:K04146] (ETM4) FUS [HSA:2521] [KO:K13098] (ETM5) TENM4 [HSA:26011] [KO:K24473] (ETM6) NOTCH2NLC [HSA:100996717] [KO:K24466] |
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| H01580 |
Vitamin C deficiency Scurvy |
... bleeding gums, impaired wound healing, petechiae, perifollicular hemorrhage, anemia, arthralgia and joint effusions, fatigue, depression, and sudden death. It appears to result primarily from the decreased synthesis ... | Inherited metabolic disorder | ||
| H01587 | Disseminated intravascular coagulation | ... trauma, malignancy, liver disease, obstetric disorders, envenomation, vascular anomalies, and major transfusion reactions. A diagnosis of DIC should be made only in the presence of a clinical condition (causative ... | Hematologic disease | ||
| H01590 | Chronic eosinophilic leukemia | ... bone marrow or peripheral tissues. In most patients with CEL (about 60%), eosinophils display PDGFRA-fusion genes and related cytogenetic defects. The most commonly detected oncoprotein is FIP1L1/PDGFRA ... | Cancer |
FIP1L1-PDGFRA (deletion) [HSA:5156] [KO:K04363] BCR-PDGFRA (translocation) [HSA:5156] [KO:K04363] |
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| H01599 | Hypereosinophilic syndrome | ... myeloproliferative variant HES is the 800-kb interstitial deletion on chromosome 4q12 resulting in the fusion of 2 distinct genes, Fip1-like 1 (FIP1L1) and platelet-derived growth factor receptor-a (PDGFRA) ... | Cancer | (HES) FIP1L1-PDGFRA [HSA:5156] [KO:K04363] | |
| H01601 | Anaplastic large-cell lymphoma | ... locoregional lymph nodes, rarely disseminates. ALK-positive ALCL, by definition overexpresses an ALK-fusion gene, typically via t(2;5)(p23;35) which fuses the ALK gene on chromosome 2 with the nucleophosmin ... | Cancer |
NPM-ALK (translocation) [HSA:238] [KO:K05119] DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165] |
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| H01613 | Follicular lymphoma | ... cell lymphoproliferative disorder of transformed follicular center B cells. FL is characterized by diffuse lymphoadenopathy, bone marrow involvement, splenomegaly, and less commonly other extranodal sites ... | Cancer |
IgH-BCL2 (translocation) [HSA:596] [KO:K02161] EZH2 (mutation) [HSA:2146] [KO:K11430] MLL2 (mutation) [HSA:9757 8085] [KO:K14959 K09187] CREBBP (mutation) [HSA:1387] [KO:K04498] MEF2B (mutation) [HSA:4207] [KO:K09261] EP300 (mutation) [HSA:2033] [KO:K04498] |
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| H01642 | Renal anemia | ... primary regulator of erythropoiesis. Formerly, treatment options were essentially limited to blood transfusions and androgen therapy, with its risks. However, since the late 1980s, the availability of recombinant ... | Urinary system disease | ||
| H01665 | Primary peritoneal carcinoma | Female primary peritoneal carcinoma (PPC) has the characteristic of diffuse involvement of the peritoneum by papillary carcinoma in the absence of an obvious primary site and grossly normal ovaries, or ... | Cancer | BRCA1 (mutation) [HSA:672] [KO:K10605] | |
| H01668 | Neoplastic meningitis | Neoplastic meningitis (NM) is a diffuse dissemination of tumor cells into the cerebrospinal fluid (CSF) and/or leptomeninges. NM is reported in patients with solid tumours (carcinomatous meningitis), haematological ... | Nervous system disease | ||
| H01669 | Secondary hyperparathyroidism | ... and disturbances in mineral metabolism, mainly calcium and phosphorus. SHPT is generally caused by diffuse parathyroid hyperplasia in response to prolonged reduced levels of extracellular calcium from various ... | Endocrine and metabolic disease | ||
| H01674 |
Ankylosing spondylitis Bechterew disease |
... This disease is characterized by erosion, sclerosis, and ossification, which may result in complete fusion and rigidity of the spine. Regarding extra-articular manifestations, the most frequent is anterior ... | Musculoskeletal disease | HLA-B [HSA:3106] [KO:K06751] | |
| H01682 | Syndrome of inappropriate antidiuretic hormone secretion | ... Treatment options for SIADH include fluid restriction, demeclocycline, urea, frusemide and saline infusion, all of which have their limitations. The introduction of the vasopressin-2 receptor antagonists ... | Endocrine and metabolic disease | AVPR2 [HSA:554] [KO:K04228] | |
| H01693 |
Eosinophilic fasciitis Diffuse fasciitis |
Eosinophilic fasciitis (EF) is a systemic inflammatory disease characterized by symmetrical swelling and skin induration of the arms and/or legs, evolving into a scleroderma-like appearance, accompanied ... | Musculoskeletal disease | ||
| H01708 |
Diffuse idiopathic skeletal hyperostosis Forestier disease Ankylosing hyperostosis Ossification of the anterior longitudinal ligament |
Diffuse idiopathic skeletal hyperostosis (DISH), also known as Forestier disease, is a systemic noninflammatory disease characterized by ossification of the entheses. It affects mainly elderly men, and ... | Musculoskeletal disease | ||
| H01712 |
Fulminant hepatic failure Fulminant hepatitis |
... acyclovir for herpesvirus infection. Different therapeutic options such as complete exchange blood transfusion, corticosteroids, and plasma pheresis, have been tried. However, the overall prognosis for patients ... | Digestive system disease |
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