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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00906 |
Macrocephaly, alopecia, cutis laxa, and scoliosis MACS syndrome |
... associated with macrocephaly, sparse hair, redundant skin, hyperlaxity of joints, gingival hypertrophy, retrognathia with abnormal skull morphology, and severe scoliosis. Homozygous mutations in RIN2, a protein ... | Congenital malformation | RIN2 [HSA:54453] [KO:K23687] | |
| H00910 | Hirschsprung disease | Hirschsprung disease (HSCR) is a relatively common cause of intestinal obstruction in the newborn. It is characterized by absence of ganglion cells in the distal bowel and extending proximally for varying ... | Congenital malformation |
(HSCR1) RET [HSA:5979] [KO:K05126] (HSCR2) EDNRB [HSA:1910] [KO:K04198] (HSCR3) GDNF [HSA:2668] [KO:K05452] (HSCR4) EDN3 [HSA:1908] [KO:K05227] (HCAD) ECE1 [HSA:1889] [KO:K01415] |
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| H00911 | Dicarboxylic aminoaciduria | Dicarboxylic aminoaciduria (DA) is an autosomal recessive disorder characterized by a striking excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino ... | Inherited metabolic disorder | SLC1A1 [HSA:6505] [KO:K05612] | |
| H00913 |
Brain-lung-thyroid syndrome Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
... respiratory distress is a syndrome of congenital hypothyroidism associated with pulmonary problems, mental retardation, muscular hypotonia and persistent ataxia which could be described as choreoathetosis. This ... | Endocrine and metabolic disease | NKX2-1 [HSA:7080] [KO:K09342] | |
| H00914 | Warsaw breakage syndrome | ... syndrome (sister chromatid cohesion defects) coexist, and individuals with this disorder show severe microcephaly, facial dysmorphy, pre- and post- natal growth retardation, and abnormal skin pigmentation. | Congenital malformation | DDX11 [HSA:1663] [KO:K11273] | |
| H00921 |
Revesz syndrome Dyskeratosis congenita, autosomal dominant 5 Exudative retinopathy with bone marrow failure |
Revesz syndrome is a rare congenital disorder characterized by bilateral exudative retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation ... | Congenital malformation | TINF2 [HSA:26277] [KO:K11112] | |
| H00922 | Schinzel-Giedion midface retraction syndrome | Schinzel-Giedion midface retraction syndrome is a rare congenital disorder characterized by severe mental retardation, midface retraction, cardiac and urogenital malformations, skeletal malformations, ... | Congenital malformation | SETBP1 [HSA:26040] [KO:K23217] | |
| H00924 |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NHEJ1 syndrome |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation is a syndrome associated with T and B cell-combined lymphocytopenia, growth retardation, microcephaly ... | Primary immunodeficiency | NHEJ1 [HSA:79840] [KO:K10980] | |
| H00926 | Growth retardation, developmental delay, coarse facies, and early death | This disease is characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits, and characteristic facial dysmorphism. Death within 30 months after birth ... | Congenital malformation | FTO [HSA:79068] [KO:K19469] | |
| H00927 |
Chylomicron retention disease Anderson disease |
Chylomicron retention disease (CRD) is a rare autosomal recessive disorder characterized by malabsorption, failure to thrive (FTT), developmental difficulties, mental retardation, abnormal vibration sense ... | Inherited metabolic disorder | SAR1B [HSA:51128] [KO:K07953] | |
| H00928 | Nephropathy with pretibial epidermolysis bullosa and deafness | Nephropathy with pretibial epidermolysis bullosa and deafness is a hereditary nephritis. Patients also have pretibial bullous skin lesions and neurosensory deafness. Nonsense mutations in CD151, an essential ... | Urinary system disease | CD151 [HSA:977] [KO:K06537] | |
| H00936 |
Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen syndrome (GOSHS) |
... enteric nervous system defects. Clinical features of this syndrome include polymicrogyria, mild mental retardation, microcephaly, facial dysmorphisms, and short-segment Hirschsprung disease. The precise function ... | Congenital malformation | KBP [HSA:26128] [KO:K23845] | |
| H00940 | Cohen syndrome | ... an autosomal recessive disorder with a broad phenotypic spectrum. Essential symptoms include mental retardation, progressive postnatal microcephaly, typical facial anomalies, ophthalmologic findings such ... | Congenital malformation | COH1 [HSA:157680] [KO:K19526] | |
| H00944 | Dowling-Degos disease | ... keratin 5 and protein O-fucosyltransferase 1. Small hyperpigmented macules appear in a clustered or reticulated pattern at flexural sites, such as the neck, axilla, and antecubital fossa. There may be ... | Skin disease |
(DDD1) KRT5 [HSA:3852] [KO:K07605] (DDD2) POFUT1 [HSA:23509] [KO:K03691] (DDD4) POGLUT1 [HSA:56983] [KO:K13667] |
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| H00946 | Arts syndrome | Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, delayed motor development, ataxia, congenital sensorineural hearing impairment, and optic atrophy. Patients ... | Congenital malformation | PRPS1 [HSA:5631] [KO:K00948] | |
| H00948 | Renal hypouricemia | ... uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Renal urate reabsorption is controlled via two proximal tubular urate transporters: apical URAT1 ... | Urinary system disease |
(RHUC1) SLC22A12 [HSA:116085] [KO:K08208] (RHUC2) SLC2A9 [HSA:56606] [KO:K08146] |
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| H00955 | Granular corneal dystrophies | ... dystrophy are composed of eosinophilic hyaline deposits. Differences in the clinical appearance of the discrete corneal opacities permit to divide into types of GCD; Type I classic form of GCD, type II Avellino ... | Nervous system disease | TGFBI [HSA:7045] [KO:K19519] | |
| H00969 | Skeletal defects, genital hypoplasia, and mental retardation | This syndrome is associated with mental retardation, craniofacial dysmorphism, disproportionate short stature, and genital hypoplasia. Skeletal dysplasia includes absence of the thumbs, hypoplasia of the ... | Congenital malformation | ZBTB16 [HSA:7704] [KO:K10055] | |
| H00971 |
Achromatopsia Rod monochromacy |
Achromatopsia (Rod monochromacy/ACHM) is an autosomal recessive retinal dystrophy with a prevalence of 1 in 33,000 individuals. It is characterized by low visual acuity, photophobia, nystagmus, difficulty ... | Nervous system disease |
(ACHM2) CNGA3 [HSA:1261] [KO:K04950] (ACHM3) CNGB3 [HSA:54714] [KO:K04953] (ACHM4) GNAT2 [HSA:2780] [KO:K04631] (ACHM5) PDE6C [HSA:5146] [KO:K13757] (ACHM6) PDE6H [HSA:5149] [KO:K13760] (ACHM7) ATF6 [HSA:22926] [KO:K09054] |
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| H00973 | Bradyopsia | Bradyopsia is a condition in which patients show a prolonged response suppression on electroretinogram and have delayed adapting to sudden changes in luminance levels, photophobia, and difficulties seeing ... | Nervous system disease |
(PERRS1) RGS9 [HSA:8787] [KO:K13765] (PERRS2) RGS9BP [HSA:388531] [KO:K25405] |
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| H00987 |
Fetal akinesia deformation sequence Pena-Shokeir syndrome, type 1 |
... movement is essential for normal fetal development and growth. Intrauterine movement restriction causes growth retardation, congenital limb contractures, pterygia, pulmonary hypoplasia, and hydramnios. | Congenital malformation |
(FADS1) MUSK [HSA:4593] [KO:K05129] (FADS2) RAPSN [HSA:5913] [KO:K24924] (FADS3) DOK7 [HSA:285489] [KO:K24038] (FADS4) NUP88 [HSA:4927] [KO:K14318] |
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| H00992 | Seckel syndrome | Seckel syndrome is a recessively inherited dwarfism characterized by intrauterine growth retardation, proportionate postnatal dwarfism, severe microcephaly, micrognathia, and 'bird-headed' profile. Mental ... | Congenital malformation |
(SCKL1) ATR [HSA:545] [KO:K06640] (SCKL2) RBBP8 [HSA:5932] [KO:K20773] (SCKL4) CENPJ [HSA:55835] [KO:K11502] (SCKL5) CEP152 [HSA:22995] [KO:K16728] (SCKL6) CEP63 [HSA:80254] [KO:K16763] (SCKL7) NIN [HSA:51199] [KO:K16476] (SCKL8) DNA2 [HSA:1763] [KO:K10742] (SCKL9) TRAIP [HSA:10293] [KO:K11985] (SCKL10) NSMCE2 [HSA:286053] [KO:K22756] (SCKL11) CEP295 [HSA:85459] [KO:K26251] |
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| H00993 |
Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I) Taybi-Linder syndrome |
... primordial dwarfism, type I (MOPD I) is a condition comprising severe intrauterine and postnatal growth retardation, microcephaly, and skeletal anomalies. MOPD I is characterized by short and bowed long bones ... | Congenital malformation | RNU4ATAC [HSA:100151683] [KO:K26388] | |
| H01000 | Retinal vasculopathy with cerebral leukodystrophy | Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant microvascular endotheliopathy with middle-age onset. At around the age of 45, affected individuals may develop retinal ... | Nervous system disease | TREX1 [HSA:11277] [KO:K10790] | |
| H01008 |
C syndrome Opitz trigonocephaly syndrome |
... syndrome is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. The C syndrome is ... | Congenital malformation | CD96 [HSA:10225] [KO:K06517] | |
| H01009 | Newfoundland rod-cone dystrophy | Newfoundland rod-cone dystrophy (NFRCD) is a disorder characterized by retinal dystrophy reminiscent of retinitis punctata albescens with a substantially lower age at onset and more-rapid and distinctive ... | Nervous system disease | RLBP1 [HSA:6017] [KO:K19625] | |
| H01010 | Occult macular dystrophy | ... macular function but normal ophthalmoscopic appearance. Patients with OMD have normal full-field electroretinograms (ERGs), but the focal macular ERGs (FMERGs) and multifocal ERGs are abnormal. OMD is inherited ... | Nervous system disease | RP1L1 [HSA:94137] [KO:K19538] | |
| H01012 | Oculo-auricular syndrome | ... Previously described ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas, and rod-cone dystrophy. Mutation in the human Hmx1 ortholog HMX1 (NKX5-3) results ... | Congenital malformation | HMX1 [HSA:3166] [KO:K09349] | |
| H01015 | Jalili syndrome | ... dystrophy and amelogenesis imperfecta. It is caused by mutations in the CNNM4 gene, encoding a putative metal transporter, that is expressed in the neural retina and in ameloblasts in the developing tooth. | Congenital malformation | CNNM4 [HSA:26504] [KO:K16302] | |
| H01020 | Optic atrophy | ... atrophy (OPA) is a group of neurodegenerative disorders characterized by a sudden or gradual loss of retinal ganglion cells function. OPA results from degeneration of the retinal ganglion cells whose axons ... | Nervous system disease |
(OPA1) OPA1 [HSA:4976] [KO:K17079] (OPA3) OPA3 [HSA:80207] [KO:K23166] (OPA5) DNM1L [HSA:10059] [KO:K17065] (OPA7) TMEM126A [HSA:84233] [KO:K18157] (OPA9) ACO2 [HSA:50] [KO:K01681] (OPA10) RTN4IP1 [HSA:84816] [KO:K23164] (OPA11) YME1L1 [HSA:10730] [KO:K08955] (OPA12) AFG3L2 [HSA:10939] [KO:K08956] (OPA13) SSBP1 [HSA:6742] [KO:K03111] (OPA14) MIEF1 [HSA:54471] [KO:K23507] (OPA15) MCAT [HSA:27349] [KO:K00645] (OPA16) MECR [HSA:51102] [KO:K07512] |
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| H01022 | Diseases of the tricarboxylic acid cycle | ... the fumarate hydratase enzyme. The symptoms of the disorder include developmental delay, severe mental retardation, language impairment, seizures and dysmorphic facial features. The succinate dehydrogenase ... | Inherited metabolic disorder |
(FMRD) FH [HSA:2271] [KO:K01679] (MC2DN1) SDHA [HSA:6389] [KO:K00234] (OGDHD) OGDH [HSA:4967] [KO:K00164] |
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| H01028 |
Argininosuccinic aciduria Argininosuccinate lyase deficiency |
... that is caused by defects in argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically ... | Inherited metabolic disorder | ASL [HSA:435] [KO:K01755] | |
| H01034 | L1 syndrome | ... disorders caused by mutations in the L1CAM gene, including X-linked hydrocephalus, MASA syndrome (mental retardation, aphasia, spastic paraplegia, adducted thumbs), X-linked complicated hereditary spastic paraplegia ... | Congenital malformation | L1CAM [HSA:3897] [KO:K06550] | |
| H01035 | Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia | ... a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum. This syndrome is caused by mutations ... | Congenital malformation | IGBP1 (5-prime region) [HSA:3476] [KO:K17606] | |
| H01036 | Posterior column ataxia with retinitis pigmentosa | Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive, childhood onset neurodegenerative disorder characterized by sensory ataxia and retinitis pigmentosa. It has been reported ... | Nervous system disease | FLVCR1 [HSA:28982] [KO:K08220] | |
| H01037 | Vesicoureteral reflux | Vesicoureteral reflux (VUR) is the abnormal retrograde urinary flow from the bladder to the kidney that affects approximately 1% of the general population. It is associated with an increased risk of recurrent ... | Urinary system disease |
(VUR2) ROBO2 [HSA:6092] [KO:K06754] (VUR3) SOX17 [HSA:64321] [KO:K04495] (VUR8) TNXB [HSA:7148] [KO:K06252] |
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| H01038 |
Cerebellar ataxia cayman type Cayman ataxia |
Cerebellar ataxia cayman type (ATCAY) is an autosomal recessive disorder characterized by hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported that ... | Nervous system disease | ATCAY [HSA:85300] [KO:K18450] | |
| H01076 |
Beta-ketothiolase deficiency Alpha-methylacetoacetic aciduria |
... deficiency of mitochondrial acetoacetyl-CoA thiolase. The patients present with intermittent ketoacidotic episodes and urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, and tiglylglycine. | Inherited metabolic disorder | ACAT1 [HSA:38] [KO:K00626] | |
| H01079 |
3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency PHGDH Deficiency |
... synthesis of the amino acid L-serine characterized clinically by congenital microcephaly, psychomotor retardation, and infantile onset of intractable seizures. The biochemical abnormalities associated with ... | Inherited metabolic disorder | PHGDH [HSA:26227] [KO:K00058] | |
| H01082 | Phosphoserine aminotransferase deficiency | ... and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. The biochemical and clinical features of PSAT deficiency shared some of the features of ... | Inherited metabolic disorder | PSAT1 [HSA:29968] [KO:K00831] |
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