Search Result

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Entry	Name	Description	Category	Gene
H00181	3-Methylcrotonylglycinuria 3-Methylcrotonyl-CoA carboxylase deficiency	3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism with a variable phenotype.	Inherited metabolic disorder	(MCC1D) MCCC1 [HSA:56922] [KO:K01968] (MCC2D) MCCC2 [HSA:64087] [KO:K01969]
H00501	Fibrous dysplasia, polyostotic McCune-Albright syndrome Albright hereditary osteodystrophy	Polyostotic fibrous dysplasia is a condition of subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of ...	Congenital malformation	GNAS [HSA:2778] [KO:K04632]
H00757	Dyggve-Melchior-Clausen disease	... shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening, and distal deformities. A clinical entity similar to DMC but without mental retardation is called Smith McCort dysplasia. [DS:H02497]	Congenital malformation	DYM [HSA:54808] [KO:K23951]
H01555	Merkel cell carcinoma	Merkel cell carcinoma (MCC) is a cutaneous neuroendocrine malignancy that exhibits clinically aggressive features and is associated with a poor prognosis. Ultraviolet (UV) radiation may be a cause, and ...	Cancer	TP53 (mutation) [HSA:7157] [KO:K04451] Ha-RAS (mutation) [HSA:3265] [KO:K02833]
H01618	Pituitary gigantism	... occasionally occurs in patients with multiple endocrine neoplasia syndrome type 1 (MEN1), Carney complex, or McCune-Albright syndrome. The clinical manifestations may include increased growth velocity with tall ...	Endocrine and metabolic disease	GPR101 (duplication) [HSA:83550] [KO:K08423]
H01880	Autosomal recessive microcephaly and chorioretinopathy	Autosomal-recessive microcephaly and chorioretinopathy (MCCRP) is a rare developmental disorder characterized by primary microcephaly, delayed psychomotor development, growth retardation with dwarfism ...	Congenital malformation	(MCCRP1) TUBGCP6 [HSA:85378] [KO:K16573] (MCCRP2) PLK4 [HSA:10733] [KO:K08863] (MCCRP3) TUBGCP4 [HSA:27229] [KO:K16571]
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]
H02251	Cerebroretinal microangiopathy with calcifications and cysts Coats plus syndrome	Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is a rare and highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal ...	Nervous system disease	(CRMCC1) CTC1 [HSA:80169] [KO:K23311] (CRMCC2) STN1 [HSA:79991] [KO:K23312] (CRMCC3) POT1 [HSA:25913] [KO:K11109]
H02497	Smith-McCort dysplasia	Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epimetaphyseal dysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen disease [DS:H00757] but with normal intelligence ...	Congenital malformation	(SMC1) DYM [HSA:54808] [KO:K23951] (SMC2) RAB33B [HSA:83452] [KO:K07920]
H02519	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) is a neurodevelopmental disorder caused by mutations in MAST1, that encodes a microtubule associated protein	Congenital malformation	MAST1 [HSA:22983] [KO:K08789]

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