Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCysts (D003560)
Parent Node:
expandLeukoencephalopathies (D056784)
..Starting node
..expandLeukoencephalopathy, Cystic, Without Megalencephaly (C567845)

       Child Nodes:



 Sister Nodes: 
..expandAtaxia, Spastic, 3, Autosomal Recessive (C566956)
..expandBrain Small Vessel Disease with Hemorrhage (C564372)
..expandCerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (C563990)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandDementia, Vascular (D015140) Child3
..expandDemyelinating Autoimmune Diseases, CNS (D020278) Child15
..expandGliosis, Familial Progressive Subcortical (C565634)
..expandHereditary Central Nervous System Demyelinating Diseases (D020279) Child29
..expandHereditary Diffuse Leukoencephalopathy with Spheroids (C580150)
..expandLeukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..expandLEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..expandLeukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..expandLeukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..expandLeukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema (C563852)
..expandLeukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (C535888)
..expandLeukoencephalopathy, Cystic, Without Megalencephaly (C567845)
..expandLeukoencephalopathy, Progressive Multifocal (D007968)
..expandMuscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..expandPosterior Leukoencephalopathy Syndrome (D054038)
..expandRibose 5-Phosphate Isomerase Deficiency (C563212)
..expandTelencephalic leukoencephalopathy (C536954)
..expandVanishing White Matter Leukodystrophy with Ovarian Failure (C565836)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6393
Name:Leukoencephalopathy, Cystic, Without Megalencephaly
Definition:
Alternative IDs:OMIM:612951
ParentIDs:MESH:D003560|MESH:D056784
TreeNumbers:C04.182/C567845 |C10.228.140.695/C567845 |C23.300.306/C567845
Synonyms:
Slim Mappings:Cancer|Nervous system disease|Pathology (anatomical condition)
Reference: MedGen: C567845
MeSH: C567845
OMIM: 612951;

Genes: RNASET2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onsetHP:0040283
3 HP:0011400Abnormal CNS myelinationHP:0040283
4 HP:0001251AtaxiaHP:0040283
5 HP:0002305AthetosisHP:0040283
6 HP:0002514Cerebral calcificationHP:0040283
7 HP:0000750Delayed speech and language developmentHP:0040283
8 HP:0000295Doll-like faciesHP:0040283
9 HP:0001332DystoniaHP:0040283
10 HP:0007042Focal white matter lesions
11 HP:0002352LeukoencephalopathyHP:0040283
12 HP:0000252MicrocephalyHP:0040283
13 HP:0000639NystagmusHP:0040283
14 HP:0002465Poor speech
15 HP:0001250SeizureHP:0040283
16 HP:0000407Sensorineural hearing impairmentHP:0040283
17 HP:0011344Severe global developmental delayHP:0040283
18 HP:0003677Slowly progressive
19 HP:0001257SpasticityHP:0040283
20 HP:0002119VentriculomegalyHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_003730.4(RNASET2):c.550T>C (p.Cys184Arg)8635RNASET2Pathogenic121918137RCV000000440; NMedGen:C2751843,OMIM:612951,ORPHA:851366167344549167344549NM_003730.4:c.550T>CNP_003721.2:p.Cys184ArgNC_000006.11:g.167344549A>GOMIM Allelic Variant:612944.0001C2751843 612951 Leukoencephalopathy, cystic, without megalencephaly