| Disease Browser
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Parent Node:
 Agenesis of Corpus Callosum (D061085) | Parent Node:
Anus, Imperforate (D001006) | Parent Node:
Constipation (D003248) | Parent Node:
Mental Retardation, X-Linked (D038901) | Parent Node:
Muscle Hypotonia (D009123) | ..Starting node
.. Opitz-Kaveggia syndrome (C537923)
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Child Nodes:
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Sister Nodes: | ..Allan-Herndon-Dudley syndrome (C537047)
| ..Atonic-Astatic Syndrome of Foerster (C565926)
| ..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
| ..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
| ..Carnitine Acetyltransferase Deficiency (C563249)
| ..Cohen syndrome (C536438)
| ..Combined Oxidative Phosphorylation Deficiency 3 (C566467)
| ..Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
| ..Der Kaloustian Mcintosh Silver syndrome (C538217)
| ..Emanuel syndrome (C535733)
| ..Ethanolaminosis (C562651)
| ..Fumaric aciduria (C538191)
| ..German Syndrome (C562543)
| ..Grubben de Cock Borghgraef syndrome (C537621)
| ..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
| ..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
| ..Hypotonia, Seizures, And Precocious Puberty (C567566)
| ..Hypotonia-Cystinuria Syndrome (C564710)
| ..Joubert Syndrome 10 (C567582)
| ..Joubert syndrome 3 (C536295)
| ..Joubert syndrome 5 (C537688)
| ..Ketoadipicaciduria (C565453)
| ..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
| ..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
| ..Miller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
| ..Opitz-Kaveggia syndrome (C537923)
| ..Qazi Markouizos syndrome (C536259)
| ..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
| ..Scalp ear nipple syndrome (C536623)
| ..Three M Syndrome 2 (C567862)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 8265 |
| Name: | Opitz-Kaveggia syndrome |
| Definition: | |
| Alternative IDs: | OMIM:300321|OMIM:300406|OMIM:300422|OMIM:305450 |
| ParentIDs: | MESH:D001006|MESH:D003248|MESH:D009123|MESH:D038901|MESH:D061085 |
| TreeNumbers: | C06.198.050/C537923 |C10.500.034/C537923 |C10.597.606.643.455/C537923 |C10.597.613.575/C537923 |C16.131.314.094/C537923 |C16.131.666.034/C537923 |C16.320.322.500/C537923 |C16.320.400.525/C537923 |C23.300.008/C537923 |C23.888.592.608.575/C537923 |C23.888.821.150/C5 |
| Synonyms: | FGS |FGS1 |FGS2 |FGS3 |FGS4 |FG syndrome |FG SYNDROME 1 |FG syndrome 2 |FG syndrome 3 |FG syndrome 4 |Keller syndrome |MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM |Mental Retardation, Large Head, Im |
| Slim Mappings: | Congenital abnormality|Digestive system disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms |
| Reference: |
MedGen: C537923
MeSH: C537923
OMIM: 300321;
Genes: CASK; FGS3; FLNA; MED12; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_001110556.1(FLNA):c.3872C>T (p.Pro1291Leu) | 2316 | FLNA | Pathogenic | 137853319 | RCV000012541; | N | Gene:2270,MedGen:C1845902,OMIM:300321 | X | 153588207 | 153588207 | NM_001110556.1:c.3872C>T | NP_001104026.1:p.Pro1291Leu | NC_000023.10:g.153588207G>A | OMIM Allelic Variant:300017.0028 | C1845902 300321 FG syndrome 2 | | |
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