Disorders: M

Disorders Alternate Names Genes Inheritance Pattern
Macrophthalmia wih Microcornea and Colobomas MACOM autosomal dominant
Macular Degeneration, Early-Onset EOMD FBN2 autosomal dominant
Macular Dystrophy with Central Cone Involvement CCMD MFSD8 autosomal recessive
Macular Dystrophy, Fenestrated Type ? autosomal dominant
Macular Dystrophy, North Carolina CAPED, central areolar pigment epithelial dystrophy, central foveal dystrophy, central pigment epithelial and choroidal degeneration, MCDR1, NCMD 6q14-q16.2 locus autosomal dominant
Macular Dystrophy, Occult central cone dystrophy, occult macular dystrophy, OCMD, OMD RP1L1 autosomal dominant
Macular Dystrophy, Patterned 1 butterfly-shaped macular dystrophy, choroidal neovascularization, macroreticular macular dystrophy, reticular macular dystrophy PRPH2 autosomal dominant
Macular Dystrophy, Patterned 2 butterfly-shaped pigmentary macular dystrophy 2, MDPT2 CTNNA1 autosomal dominant
Macular Dystrophy, Patterned 3 Martinique Crinkled Retinal Pigment Epitheliopathy, MDPT3 MAPKAPK3 autosomal dominant
Macular Dystrophy, Vitelliform 1 atypical vitelliform macular dystrophy, VMD1 ? autosomal dominant
Macular Dystrophy, Vitelliform 2 Best disease, Best vitelliform macular dystrophy, bestrophinopathy, early onset vitelliiform macular dystrophy, vitelliform dystrophy, VMD2 (formerly) BEST1, RDS autosomal dominant, autosomal recessive?
Macular Dystrophy, Vitelliform 3 adult-onset foveomacular dystrophy, adult-onset vitelliform macular dystrophy, AOFMD, AVMD, VMD3 PRPH2 autosomal dominant
Macular Dystrophy, Vitelliform 4 VMD4 IMPG1 autosomal dominant, autosomal recessive
Macular Dystrophy, Vitelliform 5 VMD5 IMPG2 autosomal dominant, autosomal recessive
Macular Edema, Autosomal Dominant Cystoid cystoid macular dystrophy, DCMD, dominant cystoid macular edema, MDDC 7p21-p15 locus autosomal dominant
Majewski Syndrome polydactyly with neonatal chondrodystrophy type II, short rib-polydactyly syndrome type II, SRPS type II DYNC2H1, NEK1 autosomal recessive
Mandibulofacial Dysostosis with Alopecia MFDA EDNRA autosomal dominant
Manitoba Oculotrichoanal Syndrome Marles syndrome, MOTA FREM1 autosomal recessive
Mannosidosis, Alpha B alpha-mannosidase B deficiency, alpha-mannosidosis MAN2B1 autosomal recessive
Marfan Lipodystrophy Syndrome marfanoid-progeroid-lipodystrophy syndrome, MFLS FBN1 autosomal dominant
Marfan Syndrome MFS1 FBN1 autosomal dominant
Marinesco-Sjogren Syndrome MSS SIL1 autosomal recessive
Maroteaux-Lamy Syndrome (MPS VI) ARSB deficiency, arylsulfatase B deficiency, MPS6, mucopolysaccharidosis type VI ARSB autosomal recessive
Marshall Syndrome MRSHS COL11A1 autosomal dominant, autosomal recessive?
McCune-Albright Syndrome PFD, POFD, polyostotic fibrous dysplasia GNAS ?
Meckel Syndrome Gruber syndrome, Meckel-Gruber syndrome, MKS multiple autosomal recessive
Meester-Loeys Syndrome MRLS BGN X-linked dominant
Megalocornea MGC1 CHRDL1 X-linked recessive
Megalocornea, Ectopia Lentis, and Spherophakia LTBP2 autosomal recessive
MELAS Syndrome mitochondrial myopathy with encephalopathy and lactic acidosis and stroke-like episodes multiple mitochondrial
Mental Retardation, AD 34 MRD34 COL4A3BP autosomal dominant
Mental Retardation, X-Linked 99, Syndromic, Female-Restricted MRXS99F USP9X X-linked dominant
Microcephaly, Congenital Cataracts, and Psoriasiform Dermatitis SC4MOL deficiency SC4MOL autosomal recessive
Microcoria, Congenital congenital miosis, MCOR 13q13-q32 locus autosomal dominant
Microcornea, Myopia, Telecanthus and Posteriorly-Rotated Ears MMCAT ADAMTS18 autosomal recessive?
Microphthalmia and Anophthalmia, ALDH1A3 Associated ALDH1A3 autosomal recessive
Microphthalmia with Coloboma, AD GDF3, isolated colobomatous microphthalmia, MCOPCB2, MCOPCB3, MCOPCB4, MCOPCB5, MCOPCB6, SHH GDF3, SHH autosomal dominant, autosomal recessive
Microphthalmia with Coloboma, X-Linked colobomatous microphthalmia, isolated microphthalmia with coloboma, MCOPCB1 ? X-linked recessive
Microphthalmia with Limb Anomalies anophthalmia-syndactyly, MLA, OAS, ophthalmoacromelic syndrome, Waardenburg anophthalmia syndrome SMOC1 autosomal recessive
Microphthalmia with Retinitis Pigmentosa MCOP5, microphthalmia 5 MFRP autosomal recessive
Microphthalmia, AR isolated clinical anophthalmia, isolated microphthalmia 2, MCOP2 VSX2 autosomal recessive
Microphthalmia, Isolated, with Cataract MCOPCT1, MCOPCT2, MCOPCT3 SIX6 autosomal dominant
Microphthalmia, Syndromic 1 Lenz dysplasia, Lenz microphthalmia syndrome, MCOPS1, syndromic 1 microphthalmia Xq27-Xq28 locus X-linked recessive
Microphthalmia, Syndromic 10 MCOPS10, microphthalmia and brain atrophy, MOBA ? autosomal recessive?
Microphthalmia, Syndromic 2 MCOPS2, oculofaciocardiodental syndrome, OFCD syndrome BCOR X-linked dominant
Microphthalmia, Syndromic 3 AEG syndrome, anophthalmia-esophageal-genital syndrome, MCOPS3, microphthalmia and esophageal atresia syndrome SOX2 autosomal dominant
Microphthalmia, Syndromic 4 MCOPS4, microphthalmia with ankyloblepharon and mental retardation ? X-linked recessive
Microphthalmia, Syndromic 5 MCOPS5 OTX2 autosomal dominant
Microphthalmia, Syndromic 6 MCOPS6, microphthalmia and pituitary anomalies, microphthalmia with brain and digit anomalies BMP4 autosomal dominant
Microphthalmia, Syndromic 7 MCOPS7, microphthalmia with dermal aplasia and sclerocornea, microphthalmia with linear skin defects, MIDAS syndrome, MLS, syndromic microphthalmia 7 COX7B, HCCS X-linked dominant
Microphthalmia, Syndromic 8 MCOPS8, microcephaly with microphthalmia and ectrodactyly of lower limbs and prognathism, MMEP SNX3 ?
Microphthalmia, Syndromic 9 anophthalmia/microphthalmia and pulmonary hypoplasia, Matthew-Wood syndrome, MCOPS9, microphthalmia and pulmonary agenesis, Spear syndrome, STRA6 STRA6 autosomal recessive
Mitochondrial DNA Depletion Syndrome 1 MNGIE, MTDPS1 TYMP autosomal recessive
Mitochondrial DNA Depletion Syndrome 3 hepatocerebral type DNA depletion syndrome, MTDPS3 DGUOK autosomal recessive
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency ECHS1D ECHS1 autosomal recessive
Möebius Syndrome MBS, Möebius sequence autosomal dominant?, autosomal recessive?
Morquio Syndrome (MPS IVA) Morquio A disease, MPS IVA, MPS4A, mucopolysaccharidosis type IVA GALNS autosomal recessive
Morquio Syndrome (MPS IVB) MPS IVB, MPS4B, mucopolysaccharidosis type IVB GLB1 autosomal recessive
Mowat-Wilson Syndrome Hirschsprung disease-mental retardation syndrome ZEB2 autosomal dominant
Multiple Endocrine Neoplasia, Type IIB MEN2B, mucosal neuroma syndrome, Wagenmann-Froboese syndrome RET autosomal dominant
Multiple Mitochondrial Dysfunctions Syndrome 4 MMDS4 ISCA2 autosomal recessive
Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability MDCCAID INPP5K autosomal recessive
Myasthenic Syndromes, Congenital, Including AChR Deficiency CMS1D, CMSId, congenital myasthenic syndrome associated with acetylcholine receptor deficiency, congenital myasthenic syndrome type Id CHRNB1, CHRNE, MUSK, RAPSN autosomal recessive
Myopia 1, X-linked, Nonsyndromal MYP1 MYP1 X-linked recessive
Myopia 2, Autosomal Dominant, Nonsyndromal extreme nearsightedness, MYP2 multiple susceptibility loci autosomal dominant
Myopia 25, Autosomal Dominant, Nonsyndromic MYP25 P4HA2 autosomal dominant
Myopia and Deafness DFNMYP SLITRK6 autosomal recessive
Myopia, AR, with Cataracts and Vitreoretinal Degeneration high myopia with cataract and vitreoretinal degeneration, MCVD LEPREL1 autosomal recessive
Myotonic Dystrophy 1 DM, DM1, dystrophia myotonica, Steinert disease DMPK autosomal dominant
Myotonic Dystrophy 2 DM2, PROMM, proximal myotonic dystrophy, Ricker syndrome CNDB autosomal dominant