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:
expandDeafness (D003638)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandMental Retardation, X-Linked (D038901)
Parent Node:
expandMicrocephaly (D008831)
Parent Node:
expandOphthalmoplegia (D009886)
..Starting node
..expandSchimke X-linked mental retardation syndrome (C536630)

       Child Nodes:



 Sister Nodes: 
..expandAdenine Nucleotide Translocator Deficiency (C566309)
..expandCANOMAD syndrome (C537980)
..expandExternal Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..expandFibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..expandHamano Tsukamoto syndrome (C535625)
..expandInclusion Body Myopathy 3, Autosomal Dominant (C565311)
..expandInclusion body myopathy, autosomal dominant (C538330)
..expandMinicore Myopathy with External Ophthalmoplegia (C564969)
..expandMotor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..expandOcular Myopathy with Curare Sensitivity (C564937)
..expandOculomelic amyoplasia (C537737)
..expandOculootoradial syndrome (C535544)
..expandOphthalmoplegia Totalis with Ptosis and Miosis (C564927)
..expandOphthalmoplegia, Chronic Progressive External (D017246) Child7
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandOphthalmoplegia, Familial Static (C563500)
..expandOphthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..expandOphthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..expandOphthalmoplegic Migraine (D060486)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926)
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)
..expandSupranuclear Palsy, Progressive (D013494) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandWieacker syndrome (C536703)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10017
Name:Schimke X-linked mental retardation syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D003638|MESH:D006130|MESH:D008831|MESH:D009886|MESH:D038901
TreeNumbers:C05.660.207.620/C536630 |C09.218.458.341.186/C536630 |C10.292.562.750/C536630 |C10.500.507.400.500/C536630 |C10.597.606.643.455/C536630 |C10.597.622.447/C536630 |C10.597.751.418.341.186/C536630 |C11.590.472/C536630 |C16.131.621.207.620/C536630 |C16.131.666.507.40
Synonyms:Childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness |Choreoathetosis with mental retardation X- linked |Choreoathetosis With Mental Retardation, X-Linked |Progressive basal ga
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C536630
MeSH: C536630
OMIM: 312840;

Genes:
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0001266Choreoathetosis
3 HP:0000544External ophthalmoplegia
4 HP:0001510Growth delay
5 HP:0000365Hearing impairment
6 HP:0001249Intellectual disability
7 HP:0005484Secondary microcephaly
8 HP:0001257Spasticity
Disease Causing ClinVar Variants