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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Agenesis of Corpus Callosum (D061085)
Parent Node: Congenital Abnormalities (D000013)
Parent Node: Eye Diseases, Hereditary (D015785)
Parent Node: Genetic Diseases, X-Linked (D040181)
..Starting node ..Aicardi Syndrome (D058540)
Child Nodes:
........X-linked infantile spasm syndrome (C538670)
Sister Nodes:
..Aarskog Syndrome (C535331) 1
..Abruzzo Erickson syndrome (C535559)
..Achromatopsia incomplete, X-linked (C538165)
..Adrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
..Agammaglobulinemia, X-linked, type 2 (C538057)
..Aicardi Syndrome (D058540) 1
..Aland Island Eye Disease (C562664)
..Alpha-Thalassemia Myelodysplasia Syndrome (C563023)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Alzheimer Disease 16 (C567463)
..Androgen-Insensitivity Syndrome (D013734) 2
..Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (C567533)
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Anemia, X-Linked, without Thrombocytopenia (C564429)
..Anencephaly and spina bifida X-linked (C536359)
..Aneurysm, Intracranial Berry, 5 (C563670)
..Angioma serpiginosum, X-linked (C536366)
..Arthrogryposis multiplex congenita, distal, X-linked (C535380)
..Arthrogryposis, X-Linked, Type V (C564574)
..Arts syndrome (C535388)
..Atypical Mycobacteriosis, Familial, X-Linked 1 (C567070)
..Atypical Mycobacteriosis, Familial, X-Linked 2 (C567068)
..Barth Syndrome (D056889) 2
..Bornholm Eye Disease (C564092)
..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..Branchial arch syndrome X-linked (C537102)
..Brunner Syndrome (C563156)
..Bruton type agammaglobulinemia (C537409)
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..Cantu syndrome (C535572)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardiomyopathy, Dilated, 3A (C564721)
..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
..Chondrodysplasia punctata 2, X-linked dominant (C538416)
..Chondrodysplasia punctata, brachytelephalangic (C535941)
..Choroideremia (D015794) 2
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Cleft Palate with Ankyloglossia (C564442)
..Cleft palate X-linked (C536426)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Congenital alopecia X-linked (C535981)
..Congenital Heart Defects, X-Linked (C567444)
..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..Congenital idiopathic intestinal pseudoobstruction (C535532)
..Corpus Callosum, Partial Agenesis of, X-Linked (C564115)
..Craniofacioskeletal Syndrome (C567471)
..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
..Deafness, X-Linked 1 (C564433)
..Deafness, X-Linked 3 (C564727)
..Deafness, X-Linked 4 (C564723)
..Deafness, X-Linked 5 (C564472)
..Dent Disease (D057973) 1
..Dent disease 1 (C538212)
..Dent Disease 2 (C564487)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dyserythropoietic Anemia with Thrombocytopenia (C564525)
..Dyskeratosis Congenita (D019871) 3
..Dystonia 3, Torsion, X-Linked (C564048)
..Ectodermal Dysplasia 1, Anhidrotic (D053358) 1
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..Ehlers-Danlos syndrome type 5 (C536197)
..Epidermodysplasia Verruciformis, X-Linked (C564430)
..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Episodic Muscle Weakness, X-Linked (C564565)
..Exudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
..Fabry Disease (D000795) 2
..Fetal akinesia syndrome, X-linked (C537921)
..Fg Syndrome 5 (C564480)
..Focal Dermal Hypoplasia (D005489) 1
..Glycogen Storage Disease Type IIb (D052120)
..Glycogen Storage Disease Type VIII (D006015)
..Glycogen Storage Disease, Type IXA2 (C567579)
..Glycogen Storage Disease, Type IXD (C564485)
..Granulomatous Disease, Chronic (D006105) 7
..Hemophilia B (D002836)
..Heterotaxy, visceral, X-linked (C538116)
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Heterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
..Hodgkin disease, X-linked pseudoautosomal (C538326)
..Hydrocephalus With Cerebellar Agenesis (C564407)
..Hydrocephalus, X-linked (C536078)
..Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
..Hyper-IgM Immunodeficiency Syndrome, Type 1 (D053307) 1
..Hyperekplexia and Epilepsy (C564474)
..Hypertrichosis congenital generalized X-linked (C538388)
..Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149)
..Hypogammaglobulinemia, X-Linked (C562478)
..Hypoparathyroidism, X-Linked (C562782)
..Hypospadias 1, X-Linked (C567482)
..Hypospadias 2, X-Linked (C567462)
..Ichthyosis, X-Linked (D016114) 2
..Ichthyosis, X-Linked, Complicated (C567443)
..Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (C580192)
..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (C562780)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Joubert Syndrome 10 (C567582)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Leigh Syndrome, X-Linked (C564114)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Liver Glycogenosis, X-Linked, Type II (C564421)
..Lymphoproliferative Syndrome, X-Linked, 2 (C564469)
..Macrothrombocytopenia, X-Linked (C564526)
..Macular Dystrophy, X-Linked (C564110)
..Major Affective Disorder 2 (C564108)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..Megalocornea (C562829)
..Membranoproliferative Glomerulonephritis, X-Linked (C564423)
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mental Retardation, X-Linked (D038901) 134
..Mental Retardation, X-Linked, Syndromic 12 (C564106)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
..Mental Retardation, X-Linked, With Panhypopituitarism (C567485)
..Mental Retardation, X-Linked, Znf711-Related (C567583)
..Microcephaly microcornea syndrome Seemanova type (C537539)
..Microphthalmia, Isolated, with Coloboma 1 (C564531)
..Microphthalmia, syndromic 7 (C537466)
..Midline Defects, X-Linked (C564054)
..Mitral valve prolapse, familial, X-linked (C537478)
..Modifier, X-Linked, for Neurofunctional Defects (C564098)
..Multiple Pterygium Syndrome, X-Linked (C564072)
..Muscular Dystrophy, Duchenne (D020388) 1
..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myopia 1 (C564091)
..Myopia 13 (C564473)
..Nance-Horan syndrome (C538336)
..Nasodigitoacoustic syndrome (C538337)
..NEMO mutation with immunodeficiency (C538399)
..Nephrogenic Syndrome of Inappropriate Antidiuresis (C564491)
..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..Neural tube defects X-linked (C536410)
..Neuropathy, Hereditary Sensory, X-Linked (C564090)
..Neutropenia, Severe Congenital, X-Linked (C564539)
..Night blindness, congenital stationary (C536122) 4
..Nystagmus 5, Infantile Periodic Alternating (C564478)
..Oculocerebrorenal Syndrome (D009800) 1
..Ophthalmoplegia, External, and Myopia (C564087)
..Opitz GBBB Syndrome, X-Linked (C567932)
..Optic atrophy, X-linked (C537125)
..Ornithine Carbamoyltransferase Deficiency Disease (D020163) 1
..Ovarian Dysgenesis 2 (C564499)
..Panhypopituitarism X-linked (C538613)
..Parathyroid Glands, Agenesis Of (C563238)
..Parkinson Disease 12 (C564486)
..Parkinsonism, early onset with mental retardation (C537179)
..Pelizaeus-Merzbacher Disease (D020371) 1
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Premature Ovarian Failure 2a (C564498)
..Progressive hearing loss stapes fixation (C536424)
..Properdin Deficiency, Type II (C564075)
..Properdin Deficiency, Type III (C564076)
..Properdin deficiency, X-linked (C537241)
..PROSTATE CANCER, HEREDITARY, X-LINKED 1 (OMIM:300147)
..Prostate Cancer, Hereditary, X-Linked 2 (C567477)
..Protoporphyria, Erythropoietic, X-Linked Dominant (C567464)
..Proud Syndrome (C563110)
..Ptosis, Hereditary Congenital 2 (C564553)
..Radial Ray Deficiency, X-Linked (C564523)
..Radiation Sensitivity of Natural Killer Activity (C564066)
..Radius absent anogenital anomalies (C535281)
..Reticuloendotheliosis, X-linked (C538362)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 6 (C564065)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Russell-Silver Syndrome, X-Linked (C562446)
..Short Stature, Idiopathic, X-Linked (C564479)
..Simpson-Golabi-Behmel syndrome (C537340)
..Simpson-Golabi-Behmel Syndrome, Type 2 (C564567)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Spastic paraplegia 16, X-linked (C536643)
..Spastic paraplegia 2, X-linked (C536857)
..Spastic Paraplegia 34, X-Linked (C567465)
..Spina Bifida, X-Linked (C564459)
..Spinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
..Spinocerebellar ataxia, X-linked, 3 (C537315)
..Split-Hand Foot Malformation 2 (C564056) 1
..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447)
..Spondylometaphyseal Dysplasia, X-Linked (C563124)
..Surfactant Metabolism Dysfunction, Pulmonary, 4 (C567461)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Testicular Germ Cell Tumor 1 (C564559)
..Thrombocytopenia 1 (C564052)
..Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..Thrombocytopenia, X-Linked, Intermittent (C564053)
..Thrombocytosis, Familial X-Linked (C564532)
..Thrombophilia, X-Linked, Due To Factor Ix Defect (C567581)
..Thyroxine-Binding Globulin Deficiency (C564049)
..Tooth Agenesis, Selective, X-Linked, 1 (C567060)
..Torticollis keloids cryptorchidism renal dysplasia (C536970)
..VACTERL Association With Hydrocephalus (C564751)
..VACTERL association with hydrocephaly, X-linked (C536520)
..Vasquez Hurst Sotos syndrome (C536533)
..Vesicoureteral Reflux, X-Linked (C564042)
..Von Willebrand Disease, X-Linked Form (C564041)
..Wells Jankovic syndrome (C536692)
..Wieacker syndrome (C536703)
..Wiskott-Aldrich Syndrome (D014923) 1
..X Inactivation, Familial Skewed, 1 (C564716)
..X Inactivation, Familial Skewed, 2 (C564572)
..X-linked adrenal hypoplasia congenita (C536757)
..X-Linked Chondrodysplasia Punctata 1 (C580533)
..X-Linked Combined Immunodeficiency Diseases (D053632) 1
..X-Linked Infantile Nystagmus (C580539)
..X-linked sideroblastic anemia (C536761)
..X-linked tetra-amelia (C536497)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

375

Name:

Aicardi Syndrome

Definition:

A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.

Alternative IDs:

OMIM:304050

ParentIDs:

MESH:D000013|MESH:D015785|MESH:D040181|MESH:D061085

TreeNumbers:

C10.500.034.687 |C11.270.019 |C16.131.162 |C16.131.666.034.687 |C16.320.290.019 |C16.320.322.030

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D058540
MeSH: D058540
OMIM: 304050;

Genes: AIC;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0000951	Abnormality of the skin
3	HP:0000463	Anteverted nares
4	HP:0002308	Arnold-Chiari malformation
5	HP:0000892	Bifid ribs
6	HP:0003305	Block vertebrae
7	HP:0003316	Butterfly vertebrae
8	HP:0000518	Cataract
9	HP:0002389	Cavum septum pellucidum
10	HP:0007858	Chorioretinal lacunae
11	HP:0002190	Choroid plexus cyst
12	HP:0000175	Cleft palate
13	HP:0000204	Cleft upper lip
14	HP:0001305	Dandy-Walker malformation
15	HP:0002188	Delayed CNS myelination
16	HP:0007082	Dilated third ventricle
17	HP:0006956	Dilation of lateral ventricles
18	HP:0011097	Epileptic spasm
19	HP:0000324	Facial asymmetry
20	HP:0001290	Generalized hypotonia
21	HP:0002282	Gray matter heterotopia
22	HP:0001028	Hemangioma
23	HP:0002937	Hemivertebrae
24	HP:0002884	Hepatoblastoma
25	HP:0002036	Hiatus hernia
26	HP:0001252	Hypotonia
27	HP:0012469	Infantile spasms
28	HP:0002187	Intellectual disability, profound
29	HP:0012032	Lipoma
30	HP:0200059	Metastatic angiosarcoma
31	HP:0000252	Microcephaly
32	HP:0000568	Microphthalmia
33	HP:0000921	Missing ribs
34	HP:0000639	Nystagmus
35	HP:0000648	Optic atrophy
36	HP:0000588	Optic disc coloboma
37	HP:0001302	Pachygyria
38	HP:0001338	Partial agenesis of the corpus callosum
39	HP:0002126	Polymicrogyria
40	HP:0008897	Postnatal growth retardation
41	HP:0000826	Precocious puberty
42	HP:0010759	Prominence of the premaxilla
43	HP:0009623	Proximal placement of thumb
44	HP:0006532	Recurrent pneumonia
45	HP:0000541	Retinal detachment
46	HP:0000902	Rib fusion
47	HP:0002650	Scoliosis
48	HP:0010609	Skin tags
49	HP:0005338	Sparse lateral eyebrow
50	HP:0002414	Spina bifida
51	HP:0005815	Supernumerary ribs
52	HP:0009792	Teratoma

Disease Causing ClinVar Variants