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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00785 | Congenital hypotrichosis with juvenile macular dystrophy | ... scalp hair from birth and resulting hair loss associated with progressive macular degeneration leading to blindness not later than the third decade of life. The causative gene is CDH3 encoding P-cadherin. | Congenital malformation | CDH3 [HSA:1001] [KO:K06796] | |
| H00793 | Poikiloderma with neutropenia | ... genodermatosis found in Navajo people. It is characterized by erythematous rash that appears in the first year of life. The rash starts from the limbs and spreads to the trunk and the face, evolving into poikiloderma ... | Skin disease | USB1 [HSA:79650] [KO:K23093] | |
| H00795 | Seborrhea-like dermatitis with psoriasiform element | ... dermatosis characterized by common dandruffs and eczematous or psoriasiform plaques. Enhanced keratinocyte proliferation and dermal infiltration of inflammatory cells are observed in the disease. Mutations in ZNF750 ... | Immune system disease; Skin disease | ZNF750 [HSA:79755] [KO:K24377] | |
| H00814 | Vitelliform macular dystrophy | Vitelliform macular dystrophy is characterized by autosomal dominant inheritance and autofluorescent deposits within and beneath the retinal pigment epithelium. The onset of Juvenile vitelliform macular ... | Nervous system disease |
(VMD2/ AVMD/ ARB) BEST1 [HSA:7439] [KO:K13878] (VMD3/ AVMD) PRPH2 [HSA:5961] [KO:K17343] (VMD4) IMPG1 [HSA:3617] [KO:K19016] (VMD5) IMPG2 [HSA:50939] [KO:K19017] |
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| H00834 | Guanidinoacetate methyltransferase deficiency | ... creatine. GAMT deficiency is characterized by developmental arrest or delay in the first few months of life with epilepsy and extrapyramidal movements as common features. Neurologic signs and symptoms are ... | Inherited metabolic disorder | GAMT [HSA:2593] [KO:K00542] | |
| H00837 | Leber congenital amaurosis | ... heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor function as tested by electroretinography ... | Nervous system disease |
(LCA1) GUCY2D [HSA:3000] [KO:K12321] (LCA2) RPE65 [HSA:6121] [KO:K11158] (LCA3) SPATA7 [HSA:55812] [KO:K19655] (LCA4) AIPL1 [HSA:23746] [KO:K17767] (LCA5) LCA5 [HSA:167691] [KO:K24828] (LCA6) RPGRIP1 [HSA:57096] [KO:K16512] (LCA7) CRX [HSA:1406] [KO:K09337] (LCA8) CRB1 [HSA:23418] [KO:K16681] (LCA9) NMNAT1 [HSA:64802] [KO:K06210] (LCA10) CEP290 [HSA:80184] [KO:K16533] (LCA11) IMPDH1 [HSA:3614] [KO:K00088] (LCA12) RD3 [HSA:343035] [KO:K25404] (LCA13) RDH12 [HSA:145226] [KO:K11153] (LCA14) LRAT [HSA:9227] [KO:K00678] (LCA15) TULP1 [HSA:7287] [KO:K19600] (LCA16) KCNJ13 [HSA:3769] [KO:K05006] (LCA17) GDF6 [HSA:392255] [KO:K20012] (LCA18) PRPH2 [HSA:5961] [KO:K17343] (LCA19) USP45 [HSA:85015] [KO:K11844] (LCAEOD) TUBB4B [HSA:10383] [KO:K07375] |
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| H00840 | Pseudo-TORCH syndrome | Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare neurological disorder characterized by intracranial calcification and polymicrogyria. This combination is usually ... | Congenital malformation |
(PTORCH1) OCLN [HSA:100506658] [KO:K06088] (PTORCH2) USP18 [HSA:11274] [KO:K11846] (PTORCH3) STAT2 [HSA:6773] [KO:K11221] |
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| H00842 | Epidermodysplasia verruciformis | ... genodermatosis, which is characterized by persistent human papillomavirus infection. The clinical features are lifelong eruption of pityriasis versicolor-like macules, flat wart-like papules and development of cutaneous ... | Skin disease |
(EV1) TMC6 [HSA:11322] [KO:K21988] (EV2) TMC8 [HSA:147138] [KO:K21988] (EV3) CIB1 [HSA:10519] [KO:K17259] (EV4) RHOH [HSA:399] [KO:K07873] (EV5) IL7 [HSA:3574] [KO:K05431] |
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| H00878 | Cystic leukoencephalopathy without megalencephaly | ... static encephalopathy with normo- or microcephaly and psychomotor impairment within the first year of life. Brain magnetic resonance imaging (MRI) shows bilateral anterior temporal lobe cystic lesions and ... | Inherited metabolic disorder | RNASET2 [HSA:8635] [KO:K01166] | |
| H00885 |
Hypomelanosis of Ito Pigmentary mosaicism |
... the eye, and skeletal system. The hypomelanotic lesions are present at birth or usually appear in the first year of life. Hypomelanosis of Ito includes many different states of chromosomal mosaicism. | Skin disease | chromosomal mosaicism | |
| H00893 | Cardiomyopathy, dilated, with woolly hair and keratoderma | ... with hyperkeratosis and epidermolytic keratoderma developing in early childhood. Cardiomyopathy may become apparent in the first decade of life, and early death due to heart failure has been reported. | Congenital malformation | DSP [HSA:1832] [KO:K10381] | |
| H00896 | Lymphangioleiomyomatosis | Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of ... | Respiratory system disease |
TSC1 [HSA:7248] [KO:K07206] TSC2 [HSA:7249] [KO:K07207] |
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| H00899 | Lysinuric protein intolerance | ... and kidney. Patients affected by this disorder, in general, come to medical attention from early on in life with several significant problems including failure to thrive and intellectual impairment. LPI is ... | Inherited metabolic disorder | SLC7A7 [HSA:9056] [KO:K13867] | |
| H00919 | Arterial tortuosity syndrome | ... tortuosity syndrome is caused by the upregulation of TGF-beta signaling that stimulates vessel wall cell proliferation, but other mechanism involving disturbed transport of ascorbate, a cofactor for collagen and ... | Congenital malformation | SLC2A10 [HSA:81031] [KO:K08147] | |
| H00945 | Factor XIII deficiency | ... fibrinolysis. The severity of the bleeding tendency varies from benign symptoms like excessive bruising to life threatening bleeding emergencies such as intracranial hemorrhages. In plasma, FXIII circulates as ... | Hematologic disease |
F13A1 [HSA:2162] [KO:K03917] F13B [HSA:2165] [KO:K03906] |
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| H00951 |
Reis-Bucklers corneal dystrophy Corneal dystrophy of Bowman type I Granular corneal dystrophy type III |
... dominant dystrophy and patients are born with normal appearing corneas. In the first or second decade of life, corneal opacification and scarring cause marked visual loss and recurrent corneal erosions lead ... | Nervous system disease | TGFBI [HSA:7045] [KO:K19519] | |
| H00952 |
Thiel-Behnke dystrophies Corneal dystrophy of Bowman layer type II Honeycomb corneal dystrophy Anterior limiting membrane dystrophy type II Curly fibers corneal dystrophy Waardenburg-Jonker corneal dystrophy |
... autosomal dominant dystrophy with recurrent corneal erosions developing in the first and second decade of life. TBCD shares many similarities with Reis-Bucklers corneal dystrophy (RBCD), but decreasing visual ... | Nervous system disease | TGFBI [HSA:7045] [KO:K19519] | |
| H00953 |
Gelatinous drop-like corneal dystrophy Corneal amyloidosis |
... gelatinous mulberry-shaped nodules formed beneath the corneal epithelium during the first decade of life. Clinical symptoms include photophobia, foreign body sensation, and decreased vision. Fusiform deposits ... | Nervous system disease | TACSTD2 [HSA:4070] [KO:K17288] | |
| H00954 |
Macular corneal dystrophy Corneal dystrophy Groenouw type II Fehr corneal dystrophy |
... irritation as the diseases worsens, and will have vision severely affected by the third to fourth decade of life. It has been shown that a specific sulfation step in the production of keratan sulfate, the major ... | Nervous system disease | CHST6 [HSA:4166] [KO:K09671] | |
| H00959 |
Schnyder corneal dystrophy Schnyder crystalline corneal dystrophy (SCCD) Crystalline stromal dystrophy Schnyder crystalline dystrophy sine crystals |
... characterized by deposition of cholesterol in the corneal stroma. SCD usually becomes apparent early in life with corneal clouding or with crystals within the corneal stroma. Over time, an initially unremarkable ... | Nervous system disease | UBIAD1 [HSA:29914] [KO:K00810] | |
| H00960 |
Fuchs corneal dystrophy Fuchs endothelial corneal dystrophy |
... in visual acuity. These findings usually become clinically evident in the fourth and fifth decades of life. Corneal transplantation is currently the only modality used to restore vision. FECD is a genetically ... | Nervous system disease |
(FECD1) COL8A2 [HSA:1296] [KO:K23455] (FECD3) TCF4 [HSA:6925] [KO:K15603] (FECD4) SLC4A11 [HSA:83959] [KO:K13862] (FECD6) ZEB1 [HSA:6935] [KO:K09299] (FECD8) AGBL1 [HSA:123624] [KO:K23436] |
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| H00963 | Congenital hereditary endothelial dystrophy | ... opacification without other anterior segment abnormalities, usually evident at birth or in the early years of life. Two subtypes of CHED based on differences in the mode of inheritance are known, an autosomal dominant ... | Nervous system disease | SLC4A11 [HSA:83959] [KO:K13862] | |
| H01002 | Generalized arterial calcification of infancy | ... genetic disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular arteries, and resultant arterial stenosis. GACI is associated with biallelic inactivating ... | Cardiovascular disease |
(GACI1) ENPP1 [HSA:5167] [KO:K01513] (GACI2) ABCC6 [HSA:368] [KO:K05669] |
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| H01032 | N-acetylglutamate synthase deficiency | ... be severely affected resulting in fatal hyperammonemia in neonatal patients or at any later stage in life. Clinical features of NAGS deficiency include poor feeding, vomiting, altered level of consciousness ... | Inherited metabolic disorder | NAGS [HSA:162417] [KO:K11067] | |
| H01045 | Schistosomiasis | ... eggs leads to acute schistosomiasis that is characterized by cercarial dermatitis and Katayama fever. Life-threatening cardiac and neurological complications may occur. Schistosome eggs can also lead to ... | Parasitic infectious disease | ||
| H01120 |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Cerebral proliferative glomeruloid vasculopathy (PGV) Fowler syndrome |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder of brain angiogenesis, resulting ... | Nervous system disease | FLVCR2 [HSA:55640] [KO:K08220] | |
| H01174 | Congenital diarrhea | ... group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours leads to a life-threatening ... | Digestive system disease |
(DIAR1) SLC26A3 [HSA:1811] [KO:K14078] (DIAR2/MVID1) MYO5B [HSA:4645] [KO:K10357] (DIAR3) SPINT2 [HSA:10653] [KO:K23421] (DIAR4) NEUROG3 [HSA:50674] [KO:K08028] (DIAR5) EPCAM [HSA:4072] [KO:K06737] (DIAR6) GUCY2C [HSA:2984] [KO:K12320] (DIAR7) DGAT1 [HSA:8694] [KO:K11155] (DIAR8) SLC9A3 [HSA:6550] [KO:K12040] (DIAR9) WNT2B [HSA:7482] [KO:K00182] (DIAR10) PLVAP [HSA:83483] [KO:K17309] (DIAR11) PERCC1 [HSA:105371045] (DIAR12/MVID2) STX3 [HSA:6809] [KO:K08486] (DIAR13) ACSL5 [HSA:51703] [KO:K01897] |
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| H01180 |
Sveinsson chorioretinal atrophy (SCRA) Helicoid peripapillary chorioretinal degeneration (HPCD) |
... into the peripheral ocular fundus. The lesions may be evident at birth and usually progress throughout life, sometimes leading to central visual loss. Clinical findings suggest that the expansion of the degenerative ... | Nervous system disease | TEAD1 [HSA:7003] [KO:K09448] | |
| H01202 | Cataract | ... classified by the age at onset: a congenital or infantile cataract presents within the first year of life; a juvenile cataract presents within the first decade of life; a presenile cataract presents before ... | Nervous system disease |
(CTRCT1) GJA8 [HSA:2703] [KO:K07617] (CTRCT2) CRYGC [HSA:1420] [KO:K23483] (CTRCT3) CRYBB2 [HSA:1415] [KO:K23482] (CTRCT4) CRYGD [HSA:1421] [KO:K23483] (CTRCT5) HSF4 [HSA:3299] [KO:K09417] (CTRCT6) EPHA2 [HSA:1969] [KO:K05103] (CTRCT9) CRYAA [HSA:1409] [KO:K09541] (CTRCT10) CRYBA1 [HSA:1411] [KO:K23482] (CTRCT11) PITX3 [HSA:5309] [KO:K09357] (CTRCT12) BFSP2 [HSA:8419] [KO:K10379] (CTRCT13) GCNT2 [HSA:2651] [KO:K00742] (CTRCT14) GJA3 [HSA:2700] [KO:K07612] (CTRCT15) MIP [HSA:4284] [KO:K09863] (CTRCT16) CRYAB [HSA:1410] [KO:K09542] (CTRCT17) CRYBB1 [HSA:1414] [KO:K23482] (CTRCT18) FYCO1 [HSA:79443] [KO:K21954] (CTRCT19) LIM2 [HSA:3982] [KO:K24190] (CTRCT20) CRYGS [HSA:1427] [KO:K23483] (CTRCT21) MAF [HSA:4094] [KO:K09035] (CTRCT22) CRYBB3 [HSA:1417] [KO:K23482] (CTRCT23) CRYBA4 [HSA:1413] [KO:K23482] (CTRCT30) VIM [HSA:7431] [KO:K07606] (CTRCT31) CHMP4B [HSA:128866] [KO:K12194] (CTRCT33) BFSP1 [HSA:631] [KO:K10378] (CTRCT34) FOXE3 [HSA:2301] [KO:K09398] (CTRCT36) TDRD7 [HSA:23424] [KO:K18405] (CTRCT38) AGK [HSA:55750] [KO:K09881] (CTRCT39) CRYGB [HSA:1419] [KO:K23483] (CTRCT40) NHS [HSA:4810] [KO:K24144] (CTRCT41) WFS1 [HSA:7466] [KO:K14020] (CTRCT42) CRYBA2 [HSA:1412] [KO:K23482] (CTRCT43) UNC45B [HSA:146862] [KO:K21991] (CTRCT44) LSS [HSA:4047] [KO:K01852] (CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703] (CTRCT46) LEMD2 [HSA:221496] [KO:K24080] (CTRCT47) SLC16A12 [HSA:387700] [KO:K11810] (CTRCT48) DNMBP [HSA:23268] [KO:K20705] (CTRCT49) PANK4 [HSA:55229] [KO:K24265] (CTRCT50) TRPM3 [HSA:80036] [KO:K04978] |
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| H01203 |
Primary congenital glaucoma Glaucoma 3 |
Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG results from developmental abnormalities that affect the aqueous humor outflow pathway. PCG clinical features ... | Congenital malformation |
(GLC3A) CYP1B1 [HSA:1545] [KO:K07410] (GLC3D) LTBP2 [HSA:4053] [KO:K08023] (GLC3E) TEK [HSA:7010] [KO:K05121] |
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| H01246 |
Isolated congenital nail clubbing Isolated congenital digital clubbing |
... characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the connective tissues and abnormal function of the nail matrix. It has been reported that ... | Congenital malformation | HPGD [HSA:3248] [KO:K00069] | |
| H01249 | Ethylmalonic encephalopathy | ... caused by mutations in the ETHE1 gene. EE is characterized by early onset of neurological degeneration, chronic diarrhea, recurrent petechiae, orthostatic acrocyanosis, and death in the first years of life. | Inherited metabolic disorder | ETHE1 [HSA:23474] [KO:K17725] | |
| H01258 | Generalized epilepsy and paroxysmal dyskinesia | ... disorders characterized by sudden, unpredictable, disabling attacks of involuntary movement often requiring life-long treatment. It has been reported that a mutation of the alpha subunit of the BK channel causes ... | Nervous system disease | KCNMA1 [HSA:3778] [KO:K04936] | |
| H01260 | Glomerulopathy with fibronectin deposits | ... microscopic hematuria, and hypertension that lead to end-stage renal failure in the second to sixth decade of life. It has been reported that mutations in FN1, which encodes fibronectin, are the cause of GFND. | Urinary system disease | FN1 [HSA:2335] [KO:K05717] | |
| H01275 |
Interleukin 1 receptor antagonist deficiency Multifocal osteomyelitis with periostitis and pustulosis |
... caused by mutations in IL1RN. The absence of interleukin 1 receptor (IL-1R) antagonist allows unopposed action of IL-1, resulting in life threatening systemic inflammation with skin and bone involvement. | Immune system disease | IL1RN [HSA:3557] [KO:K05481] | |
| H01277 | Vitamin B12 deficiency anaemia | ... are involved in intestinal absorption and renal tubular reabsorption. Hereditary intrinsic factor deficiency (IFD) is a phenotype that is caused by mutations in CBLIF, the gene encoding intrinsic factor. | Hematologic disease |
(IGS1) CUBN [HSA:8029] [KO:K14616] (IGS2) AMN [HSA:81693] [KO:K18259] (IFD) CBLIF [HSA:2694] [KO:K14615] |
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| H01313 |
Escherichia coli meningitis Neonatal meningitis-associated Escherichia coli (NMEC) infection |
... bacterial meningitis caused by Escherichia coli, and is common in the newborn within the first month of life (neonatal meningitis). Neonatal meningitis-associated Escherichia coli (NMEC) strains possessing ... | Bacterial infectious disease | ||
| H01314 |
Rat-bite fever Haverhill fever |
Rat-bite fever is a systemic febrile zoonotic illness caused by either Streptobacillus moniliformis, common in Western countries, or Spirillum minus, which is the most prevalent pathogen in Asia. It is ... | Bacterial infectious disease | ||
| H01318 | Yaws | ... lower limbs and the fingers and toes can cause pain and digital swelling. After the early stage lesions subside due to the host immune response, the patient enters a latent stage that can be lifelong. | Bacterial infectious disease | ||
| H01336 | Encephalitozoon infection | ... known as opportunistic pathogen associated with immunocompromised individuals. Major symptoms include a life-threatening chronic diarrhea and systemic disease. The transmission routes may involve person-to-person ... | Fungal infectious disease |
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