MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
Eye Diseases, Hereditary (D015785)
Parent Node:
Genetic Diseases, X-Linked (D040181)
..Starting node
Megalocornea (C562829)

       Child Nodes:

 Sister Nodes: 
..expandAarskog Syndrome (C535331) Child1
..expandAbruzzo Erickson syndrome (C535559)
..expandAchromatopsia incomplete, X-linked (C538165)
..expandAdrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
..expandAgammaglobulinemia, X-linked, type 2 (C538057)
..expandAicardi Syndrome (D058540) Child1
..expandAland Island Eye Disease (C562664)
..expandAlpha-Thalassemia Myelodysplasia Syndrome (C563023)
..expandAlport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..expandAlzheimer Disease 16 (C567463)
..expandAndrogen-Insensitivity Syndrome (D013734) Child2
..expandAnemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (C567533)
..expandAnemia, sideroblastic spinocerebellar ataxia (C536358)
..expandAnemia, X-Linked, without Thrombocytopenia (C564429)
..expandAnencephaly and spina bifida X-linked (C536359)
..expandAneurysm, Intracranial Berry, 5 (C563670)
..expandAngioma serpiginosum, X-linked (C536366)
..expandArthrogryposis multiplex congenita, distal, X-linked (C535380)
..expandArthrogryposis, X-Linked, Type V (C564574)
..expandArts syndrome (C535388)
..expandAtypical Mycobacteriosis, Familial, X-Linked 1 (C567070)
..expandAtypical Mycobacteriosis, Familial, X-Linked 2 (C567068)
..expandBarth Syndrome (D056889) Child2  LSDB  L: 00399;
..expandBornholm Eye Disease (C564092)
..expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And (C564519)
..expandBranchial arch syndrome X-linked (C537102)
..expandBrunner Syndrome (C563156)
..expandBruton type agammaglobulinemia (C537409)
..expandBulbo-Spinal Atrophy, X-Linked (D055534) Child1
..expandBullous Dystrophy, Hereditary Macular Type (C563065)
..expandCardiac valvular dysplasia, X-linked (C535576)
..expandCardiomyopathy, Dilated, 3A (C564721)
..expandCataract, congenital, with microcornea or slight microphthalmia (C535338)
..expandChondrodysplasia punctata, brachytelephalangic (C535941)
..expandChoroideremia (D015794) Child2
..expandChromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..expandChromosome Xq28 Duplication Syndrome (C567580)
..expandCleft Palate with Ankyloglossia (C564442)
..expandCleft palate X-linked (C536426)
..expandCone Dystrophy, X-Linked, 1 (C564439)
..expandCone dystrophy, x-linked, with tapetal-like sheen (C535975)
..expandCone-Rod Dystrophy, X-Linked, 2 (C564717)
..expandCone-Rod Dystrophy, X-Linked, 3 (C564507)
..expandCone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..expandCongenital alopecia X-linked (C535981)
..expandCongenital Heart Defects, X-Linked (C567444)
..expandCongenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..expandCongenital idiopathic intestinal pseudoobstruction (C535532)
..expandCorpus Callosum, Partial Agenesis of, X-Linked (C564115)
..expandCraniofacioskeletal Syndrome (C567471)
..expandDeafness, High-Frequency Sensorineural, X-Linked (C564432)
..expandDeafness, X-Linked 1 (C564433)
..expandDeafness, X-Linked 3 (C564727)
..expandDeafness, X-Linked 4 (C564723)
..expandDeafness, X-Linked 5 (C564472)
..expandDent Disease (D057973) Child1
..expandDent disease 1 (C538212)
..expandDent Disease 2 (C564487)
..expandDyserythropoietic Anemia with Thrombocytopenia (C564525)
..expandDyskeratosis Congenita (D019871) Child3
..expandDystonia 3, Torsion, X-Linked (C564048)
..expandEctodermal Dysplasia 1, Anhidrotic (D053358) Child1
..expandEctodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..expandEctodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..expandEhlers-Danlos syndrome type 5 (C536197)
..expandEpidermodysplasia Verruciformis, X-Linked (C564430)
..expandEpilepsy, Female-Restricted, with Mental Retardation (C564715)
..expandEpilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..expandEpisodic Muscle Weakness, X-Linked (C564565)
..expandExudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
..expandFabry Disease (D000795) Child2
..expandFetal akinesia syndrome, X-linked (C537921)
..expandFg Syndrome 5 (C564480)
..expandFocal Dermal Hypoplasia (D005489) Child1
..expandGlycogen Storage Disease Type IIb (D052120)
..expandGlycogen Storage Disease Type VIII (D006015)
..expandGlycogen Storage Disease, Type IXA2 (C567579)
..expandGlycogen Storage Disease, Type IXD (C564485)
..expandGranulomatous Disease, Chronic (D006105) Child7
..expandHemophilia B (D002836)
..expandHeterotaxy, visceral, X-linked (C538116)
..expandHeterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..expandHeterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
..expandHodgkin disease, X-linked pseudoautosomal (C538326)
..expandHydrocephalus With Cerebellar Agenesis (C564407)
..expandHydrocephalus, X-linked (C536078)
..expandHydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
..expandHyper-IgM Immunodeficiency Syndrome, Type 1 (D053307) Child1
..expandHyperekplexia and Epilepsy (C564474)
..expandHypertrichosis congenital generalized X-linked (C538388)
..expandHypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149)
..expandHypogammaglobulinemia, X-Linked (C562478)
..expandHypoparathyroidism, X-Linked (C562782)
..expandHypospadias 1, X-Linked (C567482)
..expandHypospadias 2, X-Linked (C567462)
..expandIchthyosis, X-Linked (D016114) Child2
..expandIchthyosis, X-Linked, Complicated (C567443)
..expandImmune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (C580192)
..expandImmunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..expandIsolated Noncompaction of the Ventricular Myocardium (D056830) Child5
..expandJoubert Syndrome 10 (C567582)
..expandKeratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..expandLeigh Syndrome, X-Linked (C564114)
..expandLeukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..expandLiver Glycogenosis, X-Linked, Type II (C564421)
..expandLymphoproliferative Syndrome, X-Linked, 2 (C564469)
..expandMacrothrombocytopenia, X-Linked (C564526)
..expandMacular Dystrophy, X-Linked (C564110)
..expandMajor Affective Disorder 2 (C564108)
..expandMartin-Probst Deafness-Mental Retardation Syndrome (C564495)
..expandMASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..expandMegalocornea (C562829)
..expandMembranoproliferative Glomerulonephritis, X-Linked (C564423)
..expandMental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..expandMental Retardation, X-Linked (D038901) Child134  LSDB C:4
..expandMental Retardation, X-Linked, Syndromic 12 (C564106)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..expandMental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
..expandMental Retardation, X-Linked, With Panhypopituitarism (C567485)
..expandMental Retardation, X-Linked, Znf711-Related (C567583)
..expandMicrophthalmia, Isolated, with Coloboma 1 (C564531)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandMidline Defects, X-Linked (C564054)
..expandModifier, X-Linked, for Neurofunctional Defects (C564098)
..expandMultiple Pterygium Syndrome, X-Linked (C564072)
..expandMuscular Dystrophy, Duchenne (D020388) Child1
..expandMuscular Dystrophy, Emery-Dreifuss (D020389) Child10
..expandMuscular Dystrophy, Progressive Pectorodorsal (C564095)
..expandMyopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..expandMyopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..expandMyopathy, X-Linked, with Excessive Autophagy (C564093)
..expandMyopia 1 (C564091)
..expandMyopia 13 (C564473)
..expandNance-Horan syndrome (C538336)
..expandNasodigitoacoustic syndrome (C538337)
..expandNEMO mutation with immunodeficiency (C538399)
..expandNephrogenic Syndrome of Inappropriate Antidiuresis (C564491)
..expandNephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..expandNeural tube defects X-linked (C536410)
..expandNeuropathy, Hereditary Sensory, X-Linked (C564090)
..expandNeutropenia, Severe Congenital, X-Linked (C564539)
..expandNight blindness, congenital stationary (C536122) Child4
..expandNorrie disease (C537849)
..expandNystagmus 5, Infantile Periodic Alternating (C564478)
..expandOculocerebrorenal Syndrome (D009800) Child1
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandOpitz GBBB Syndrome, X-Linked (C567932)
..expandOptic atrophy, X-linked (C537125)
..expandOrnithine Carbamoyltransferase Deficiency Disease (D020163) Child1
..expandOvarian Dysgenesis 2 (C564499)
..expandPanhypopituitarism X-linked (C538613)
..expandParathyroid Glands, Agenesis Of (C563238)
..expandParkinson Disease 12 (C564486)
..expandParkinsonism, early onset with mental retardation (C537179)
..expandPelizaeus-Merzbacher Disease (D020371) Child1
..expandPhosphoglycerate Kinase 1 Deficiency (C567067)
..expandPigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..expandPremature Ovarian Failure 2a (C564498)
..expandProgressive hearing loss stapes fixation (C536424)
..expandProperdin Deficiency, Type II (C564075)
..expandProperdin Deficiency, Type III (C564076)
..expandProperdin deficiency, X-linked (C537241)
..expandProstate Cancer, Hereditary, X-Linked 2 (C567477)
..expandProtoporphyria, Erythropoietic, X-Linked Dominant (C567464)
..expandProud Syndrome (C563110)
..expandPtosis, Hereditary Congenital 2 (C564553)
..expandRadial Ray Deficiency, X-Linked (C564523)
..expandRadiation Sensitivity of Natural Killer Activity (C564066)
..expandRadius absent anogenital anomalies (C535281)
..expandReticuloendotheliosis, X-linked (C538362)
..expandRetinitis Pigmentosa 3 (C564520)
..expandRetinitis Pigmentosa 34 (C564475)
..expandRetinitis Pigmentosa 6 (C564065)
..expandRetinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..expandRolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..expandRussell-Silver Syndrome, X-Linked (C562446)
..expandShort Stature, Idiopathic, X-Linked (C564479)
..expandSimpson-Golabi-Behmel syndrome (C537340)
..expandSimpson-Golabi-Behmel Syndrome, Type 2 (C564567)
..expandSketetal dysplasia coarse facies mental retardation (C536671)
..expandSpastic paraplegia 16, X-linked (C536643)
..expandSpastic paraplegia 2, X-linked (C536857)
..expandSpastic Paraplegia 34, X-Linked (C567465)
..expandSpina Bifida, X-Linked (C564459)
..expandSpinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
..expandSpinocerebellar Ataxia, X-Linked 1 (C563134)
..expandSpinocerebellar Ataxia, X-Linked 5 (C567478)
..expandSpinocerebellar ataxia, X-linked, 3 (C537315)
..expandSplit-Hand Foot Malformation 2 (C564056) Child1
..expandSpondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..expandSpondylometaphyseal Dysplasia, X-Linked (C563124)
..expandSurfactant Metabolism Dysfunction, Pulmonary, 4 (C567461)
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandTesticular Germ Cell Tumor 1 (C564559)
..expandThrombocytopenia 1 (C564052)
..expandThrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..expandThrombocytopenia, X-Linked, Intermittent (C564053)
..expandThrombocytosis, Familial X-Linked (C564532)
..expandThrombophilia, X-Linked, Due To Factor Ix Defect (C567581)
..expandThyroxine-Binding Globulin Deficiency (C564049)
..expandTooth Agenesis, Selective, X-Linked, 1 (C567060)
..expandTorticollis keloids cryptorchidism renal dysplasia (C536970)
..expandVACTERL Association With Hydrocephalus (C564751)
..expandVasquez Hurst Sotos syndrome (C536533)
..expandVesicoureteral Reflux, X-Linked (C564042)
..expandVon Willebrand Disease, X-Linked Form (C564041)
..expandWells Jankovic syndrome (C536692)
..expandWieacker syndrome (C536703)
..expandWiskott-Aldrich Syndrome (D014923) Child1
..expandX Inactivation, Familial Skewed, 1 (C564716)
..expandX Inactivation, Familial Skewed, 2 (C564572)
..expandX-Linked Chondrodysplasia Punctata 1 (C580533)
..expandX-Linked Combined Immunodeficiency Diseases (D053632) Child1
..expandX-Linked Infantile Nystagmus (C580539)
..expandX-linked sideroblastic anemia (C536761)
..expandX-linked tetra-amelia (C536497)

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7555
Alternative IDs:DO:DOID:0060305|OMIM:309300
TreeNumbers:C11.270/C562829 |C16.320.290/C562829 |C16.320.322/C562829
Synonyms:MGC1 |MGCN
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C562829
MeSH: C562829
OMIM: 309300;
Genes: ANO5; CHRDL1;
1 HP:0001419X-linked recessive inheritance
2 HP:0000483Astigmatism
3 HP:0000518Cataract
NAMDC:  Cataracts
4 HP:0001084Corneal arcus
5 HP:0011487Increased corneal thickness
6 HP:0100693Iridodonesis
7 HP:0001132Lens subluxation
8 HP:0000485Megalocornea
9 HP:0007836Mosaic corneal dystrophy
10 HP:0000541Retinal detachmentHP:0040283
Disease Causing ClinVar Variants
NM_001143981.2(CHRDL1):c.207+1G>A91851CHRDL1Pathogenic-1RCV001728087; NMONDO:MONDO:0010649,MedGen:C4518341,OMIM:309300, Orphanet:91489X110005922110005922CT110005922-
MSeqDR Portal