Search Result

 Top
121 to 160 of 191 Prev 1 2 3 4 5 Next
Entry Name Description Category Pathway Gene
H02116 Phosphoserine phosphatase deficiency ... in a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome, and in whom compound heterozygous mutation was later identified ... Inherited metabolic disorder PSPH [HSA:5723] [KO:K01079]
H02118 Agnathia-otocephaly complex
Otocephaly 		... identification of a loss of function genetic mutation in the PRRX1 gene. Teratogenic factors include smoking, alcohol usage, or even an exposure to radiation can increase the risk. In addition, other chemicals/drugs ... Congenital malformation PRRX1 [HSA:5396] [KO:K09329]
H02121 Koolen-De Vries syndrome
Chromosome 17q21.31 deletion syndrome
Microdeletion 17q21.31 syndrome 		... disorder characterized by mild- to-moderate intellectual disability, hypotonia, and characteristic dysmorphic facial features. Other clinically important features include epilepsy, heart defects, and urogenital ... Chromosomal abnormality KANSL1 [HSA:284058] [KO:K18400]
H02132 Microcephaly syndrome Microcephaly is defined as an occipitofrontal circumference (OFC) 2 or more standard deviations below the mean for age and sex. Microcephaly may be associated with other anomalies, which is termed microcephaly ... Congenital malformation (MCPHSBA) MED17 [HSA:9440] [KO:K15133]
(MSCCA) QARS [HSA:5859] [KO:K01886]
(MCCPD) MSMO1 [HSA:6307] [KO:K07750]
(MEDS1) IER3IP1 [HSA:51124] [KO:K22939]
(MEDS2) YIPF5 [HSA:81555] [KO:K20363]
(MIMIS) DONSON [HSA:29980] [KO:K22422]
(MSSP) RTTN [HSA:25914] [KO:K16484]
(MFRG) CTU2 [HSA:348180] [KO:K14169]
(MCIDDS) KCNA4 [HSA:3739] [KO:K04877]
(MIGSB) WDR4 [HSA:10785] [KO:K15443]
(MDBH) CARS1 [HSA:833] [KO:K01883]
H02134 Microphthalmia with limb anomalies
Anophthalmia-syndactyly syndrome
Waardenburg anophthalmia syndrome
Ophthalmoacromelic syndrome 		... of fibula, and bowed tibia. In addition, other organs may be affected (long-bone hypoplasia; renal, venous, and vertebral anomalies). It has been shown that mutations in SMOC1 gene cause this disorder. Congenital malformation SMOC1 [HSA:64093] [KO:K24354]
H02146 Glass syndrome
Chromosome 2q32-q33 deletion syndrome
SATB2-associated syndrome 		... development, craniofacial abnormalities including palatal and dental abnormalities, behavioral problems, and dysmorphic features. Alterations to the SATB2 gene can result from a variety of different mechanisms that ... Chromosomal abnormality SATB2 [HSA:23314] [KO:K23226]
H02150 Infantile or early childhood epileptic encephalopathy ... disorder characterized by early-onset epilepsy, severe developmental delay, refractory seizures, and dysmorphic features, and a de novo mutation in PPP3CA. PPP3CA encodes a subunit of calcineurin, a key regulator ... Nervous system disease (IECEE1) PPP3CA [HSA:5530] [KO:K04348]
(IECEE2) GABRB2 [HSA:2561] [KO:K05181]
(IECEE3) ATP6V1A [HSA:523] [KO:K02145]
H02154 Omodysplasia ... omodysplasia (OMOD1) is a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican 6 (GPC6). An autosomal ... Congenital malformation (OMOD1) GPC6 [HSA:10082] [KO:K08112]
(OMOD2) FZD2 [HSA:2535] [KO:K02235]
H02226 Cardiospondylocarpofacial syndrome
Forney syndrome 		Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis ... Congenital malformation MAP3K7 [HSA:6885] [KO:K04427]
H02233 Alazami syndrome Alazami syndrome is an autosomal recessive disease characterized by primordial dwarfism, distinct dysmorphic features, and severe intellectual disability. Mutations in LARP7, chaperone of 7SK ncRNA, cause ... Congenital malformation LARP7 [HSA:51574] [KO:K15191]
H02239 Ehlers-Danlos syndrome, spondylodysplastic type ... B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity. Congenital malformation (EDSSPD1) B4GALT7 [HSA:11285] [KO:K00733]
(EDSSPD2) B3GALT6 [HSA:126792] [KO:K00734]
(EDSSPD3) SLC39A13 [HSA:91252] [KO:K14719]
H02249 Primrose syndrome Primrose syndrome (PRIMS) is a rare genetic disorder, characterized by dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified ... Congenital malformation ZBTB20 [HSA:26137] [KO:K10501]
H02252 PEHO syndrome ... neurodegenerative disorder that presents in infancy with hypotonia, seizures, peripheral oedema, characteristic dysmorphic features, and poor visual response. It is characterized by extreme cerebellar atrophy due to ... Nervous system disease (PEHO) ZNHIT3 [HSA:9326] [KO:K23309]
H02255 FDLAB syndrome
Traboulsi syndrome 		Facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB) syndrome, also known as Traboulsi syndrome, is an autosomal recessive disorder. FDLAB syndrome ... Congenital malformation ASPH [HSA:444] [KO:K00476]
H02271 Cerebellofaciodental syndrome ... recessive disorder characterized by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. Biallelic missense alterations ... Congenital malformation BRF1 [HSA:2972] [KO:K15196]
H02273 Nonprogressive cerebellar ataxia with mental retardation ... with mental retardation (CANPMR) is an autosomal dominant disorder with variable combination of mild dysmorphism, intellectual disability, developmental delay, behavioral problems and cerebellar abnormalities ... Nervous system disease CAMTA1 [HSA:23261] [KO:K21596]
H02285 Methylmalonate semialdehyde dehydrogenase deficiency ... presentations vary from a mild or uneventful clinical course. Severe developmental delay may be present. Dysmorphic facial features and congenital brain dysgenesis with intracerebral calcifications have also ... Inherited metabolic disorder ALDH6A1 [HSA:4329] [KO:K00140]
H02292 Retinal dystrophy, juvenile cataracts, and short stature syndrome ... syndrome (RDJCSS) is an autosomal recessive retinitis pigmentosa with systemic features, including facial dysmorphologies, psychomotor developmental delays, learning disabilities and short stature. RDJCSS is caused ... Congenital malformation RDH11 [HSA:51109] [KO:K11152]
H02298 Macrocephaly, dysmorphic facies, and psychomotor retardation Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is a rare autosomal recessive overgrowth syndrome. HERC1 mutations in individuals with MDFPMR have been reported. HERC1 is believed ... Congenital malformation HERC1 [HSA:8925] [KO:K10594]
H02300 Steel syndrome Steel syndrome is an autosomal recessive disease characterized by short stature, dysmorphic features, hip dislocations, radial head dislocations, carpal coalition, cavus feet, and scoliosis. It has been ... Congenital malformation COL27A1 [HSA:85301] [KO:K19721]
H02306 Chondrodysplasia with joint dislocations, GPAPP type ... stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. It is caused by mutations in IMPAD1, the gene encoding Golgi-resident PAP phosphatase (gPAPP) ... Congenital malformation IMPAD1 [HSA:54928] [KO:K15759]
H02308 Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a genetically heterogeneous autosomal recessive disorder. It is characterized by recurrent and often fatal respiratory ... 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]
H02328 Sifrim-Hitz-Weiss syndrome ... characterized by developmental delay, intellectual disability, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculomegaly, and hypogonadism as well as additional findings ... Congenital malformation CHD4 [HSA:1108] [KO:K11643]
H02348 Dentin dysplasia Dentin dysplasia (DD/DTDP) is a rare hereditary disturbance of dentin formation. Dentin dysplasia is divided into two main classes based on the clinical and radiographic appearance, type I (DD1/DTDP1) ... Congenital malformation (DTDP1) SMOC2 [HSA:64094] [KO:K24354]
(DTDP2) DSPP [HSA:1834] [KO:K23573]
H02363 Ververi-Brady syndrome ... characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. It has been suggested that mutations in QRICH1 cause VERBRAS. Congenital malformation QRICH1 [HSA:54870] [KO:K24297]
H02364 Heart and brain malformation syndrome ... malformation syndrome (HBMS) is a multiple congenital anomaly syndrome, characterized by craniofacial dysmorphism, congenital heart disease, and brain malformation. Mutations in SMG9, encoding an essential ... Congenital malformation SMG9 [HSA:56006] [KO:K18735]
H02365 Helsmoortel-van der Aa syndrome
Mental retardation, autosomal dominant 28 		Helsmoortel-van der Aa syndrome (HVDAS) is an autism spectrum disorder (ASD), accompanied with intellectual disability and facial dysmorphisms. It has been reported that HVDAS is caused by mutations in ... Congenital malformation ADNP [HSA:23394] [KO:K22591]
H02368 Developmental delay with short stature, dysmorphic facial features, and sparse hair Developmental delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH) is an autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies ... Congenital malformation (DEDSSH1) DPH1 [HSA:1801] [KO:K07561]
(DEDSSH2) DPH2 [HSA:1802] [KO:K17866]
H02370 FILS syndrome FILS syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunodeficiency, livedo, and short stature. It has been reported that mutations in POLE cause FILS syndrome. POLE ... Congenital malformation POLE [HSA:5426] [KO:K02324]
H02376 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF) is a syndromic intellectual disability with corpus callosum anomalies and short stature as shared features ... Congenital malformation ZNF148 [HSA:7707] [KO:K24370]
H02378 Hypotonia, ataxia, and delayed development syndrome ... neurodevelopmental syndrome, characterized by intellectual disability, speech delay, ataxia, and facial dysmorphism. It has been reported that de novo mutations in EBF3 cause HADDS. EBF3 belongs to the early ... Congenital malformation EBF3 [HSA:253738] [KO:K09103]
H02415 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 		Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR) is an autosomal recessive disease caused by TMCO1 deficiency. The function of TMCO1 is unknown, however, a critical ... Congenital malformation (CFSMR1) TMCO1 [HSA:54499] [KO:K21891]
(CFSMR2) RAB5IF [HSA:55969] [KO:K26496]
H02420 Head and neck cancer ... soft palate. Although head and neck squamous cell carcinoma (HNSCC) is traditionally associated with smoking and alcohol drinking, a growing proportion of head and neck tumors, mainly of the oropharynx ... Cancer
H02435 Deafness-infertility syndrome ... (DIS) is an autosomal recessive contiguous gene deletion syndrome characterised by deafness and sperm dysmotility. This syndrome is caused by the deletion of contiguous genes at 15q15.3. The deleted region ... Congenital malformation CATSPER2 [HSA:117155] [KO:K16890]
STRC [HSA:161497] [KO:K24636]
H02454 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) is one of the syndromic congenital heart defects. It has been reported that heterozygous mutations ... Congenital malformation CDK13 [HSA:8621] [KO:K08819]
H02460 Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies Neurodevelopmental disorder (NED) with dysmorphic facies and skeletal anomalies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies and ... Congenital malformation (NEDDFSA) ZMIZ1 [HSA:57178] [KO:K22403]
(NEDCFSA) KDM6B [HSA:23135] [KO:K11448]
(NEDDFL) BPTF [HSA:2186] [KO:K11728]
(NEDMIDF) SPOP [HSA:8405] [KO:K10523]
(NEDJED) FBXW11 [HSA:23291] [KO:K03362]
(SHAPNS) ASXL2 [HSA:55252] [KO:K11471]
(OCNDS) CSNK2A1 [HSA:1457] [KO:K03097]
(BURHAS) SIAH1 [HSA:6477] [KO:K04506]
(DEGCAGS) ZNF699 [HSA:374879] [KO:K09228]
(NEDCDS) HNRNPH1 [HSA:3187] [KO:K12898]
(NEDFIH) NAE1 [HSA:8883] [KO:K04532]
(NEDDFSB) HNRNPR [HSA:10236] [KO:K13161]
(NEDFSS) TRPM3 [HSA:80036] [KO:K04978]
(NEDSFF) DPH5 [HSA:51611] [KO:K00586]
(MCAND) OTUD5 [HSA:55593] [KO:K12655]
H02463 Syndromic intellectual developmental disorder ... characterized by intellectual disability presented together with additional features such as facial dysmorphisms or congenital anomalies. Several underlying genetic causes of these disorders have been identified Mental and behavioural disorder (IDDRP) SCAPER [HSA:49855] [KO:K24869]
(IDDCA) GNB5 [HSA:10681] [KO:K04539]
(IDDCDF) TMEM94 [HSA:9772] [KO:K25291]
(IDDFP) BRPF1 [HSA:7862] [KO:K11348]
(IDDFSDA) OTUD6B [HSA:51633] [KO:K18342]
(IDDGIP) PPM1D [HSA:8493] [KO:K10147]
(DILOS) BCL11A [HSA:53335] [KO:K22045]
(IDDBCS) PHF21A [HSA:51317] [KO:K24651]
(IDDFBA) FBXO11 [HSA:80204] [KO:K10297]
(IDDEBF) ALG14 [HSA:199857] [KO:K07441]
(IDDHDF) CCNK [HSA:8812] [KO:K23326]
(IDDHBA) CDK8 [HSA:1024] [KO:K02208]
(IDDMSSD) PAK1 [HSA:5058] [KO:K04409]
(IDDNPF) SLC45A1 [HSA:50651] [KO:K15378]
(IDDECA) RORA [HSA:6095] [KO:K08532]
(IDDSELD) SETD1B [HSA:23067] [KO:K11422]
(IDDHISD) TNPO2 [HSA:30000] [KO:K18727]
(IDDSSAD) ACTL6B [HSA:51412] [KO:K11652]
(IDDFSTA) BCL11B [HSA:64919] [KO:K22046]
(FHEIG) KCNK4 [HSA:50801] [KO:K04915]
(HIDEA) P4HTM [HSA:54681] [KO:K06711]
(IDPOGSA) ABCA2 [HSA:20] [KO:K05642]
(IDDHISD) TNPO2 [HSA:30000] [KO:K18727]
(IDDPADS) PDE2A [HSA:5138] [KO:K18283]
(IDDSAPN) NEMF [HSA:9147] [KO:K24971]
(CAGS) ANKRD17 [HSA:26057] [KO:K16726]
(MRFACD) MED13L [HSA:23389] [KO:K15164]
(IDDMDS) LGI3 [HSA:203190] [KO:K19999]
(IDDOF) MTSS2 [HSA:92154] [KO:K20128]
(IDDPN) NUDT2 [HSA:318] [KO:K01518]
H02477 Cohen-Gibson syndrome ... (COGIS) is an overgrowth syndrome caused by mutations in EED. Patients are with overgrowth, facial dysmorphism and intellectual disability. EED is a member of the polycomb repressive complex 2 (PRC2) that ... Congenital malformation EED [HSA:8726] [KO:K11462]
H02478 CATIFA syndrome ... syndrome characterized by cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, and ADHD. It has been reported that mutations in RIC1 cause CATIFA syndrome. RIC1 is an essential ... Congenital malformation RIC1 [HSA:57589] [KO:K20476]
H02481 Syndromic disorder with short stature Short stature is one of the major 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 ... Congenital malformation (SSMDF) CRIPT [HSA:9419] [KO:K24826]
(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]
121 to 160 of 191 Prev 1 2 3 4 5 Next
[ KEGG | DISEASE | DRUG | MEDICUS ]