Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Hearing Loss, Sensorineural (D006319)
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Intellectual Disability (D008607)
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Seizures (D012640)
..Starting node
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SeSAME syndrome (C557674)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDysmyelination With Jaundice (C565610)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandHyper-Beta-Alaninemia (C562684)
..expandHyperleucine-Isoleucinemia (C562674)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMuller Barth Menger syndrome (C537370)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSeSAME syndrome (C557674)
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWarman Mulliken Hayward syndrome (C536684)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10145
Name:SeSAME syndrome
Definition:
Alternative IDs:OMIM:612780
ParentIDs:MESH:D006319|MESH:D008607|MESH:D012640
TreeNumbers:C09.218.458.341.887/C557674 |C10.228.140.490.631/C557674 |C10.597.606.643/C557674 |C10.597.742/C557674 |C10.597.751.418.341.887/C557674 |C23.888.592.604.646/C557674 |C23.888.592.742/C557674 |C23.888.592.763.393.341.887/C557674 |F03.550.600/C557674
Synonyms:EAST syndrome |Epilepsy, ataxia, sensorineural deafness and tubulopathy |Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy |Seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance |Seizures, Sensorineural Deafness, Atax
Slim Mappings:Ear-nose-throat disease|Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: C557674
MeSH: C557674
OMIM: 612780;

Genes: KCNJ10;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001272Cerebellar atrophy
4 HP:0007267Chronic axonal neuropathyHP:0040283
5 HP:0000750Delayed speech and language development
6 HP:0002075Dysdiadochokinesis
7 HP:0000805Enuresis
8 HP:0001290Generalized hypotonia
9 HP:0001263Global developmental delay
10 HP:0000859Hyperaldosteronism
11 HP:0003127Hypocalciuria
12 HP:0002900Hypokalemia
13 HP:0001960Hypokalemic metabolic alkalosis
14 HP:0002917Hypomagnesemia
15 HP:0001252Hypotonia
16 HP:0000848Increased circulating renin level
17 HP:0001249Intellectual disability
18 HP:0002080Intention tremor
19 HP:0007182Peripheral hypomyelinationHP:0040283
20 HP:0001959Polydipsia
21 HP:0000103Polyuria
22 HP:0000128Renal potassium wasting
23 HP:0000127Renal salt wasting
24 HP:0012606Renal sodium wasting
25 HP:0030083Salt craving
26 HP:0001250Seizure
27 HP:0000407Sensorineural hearing impairment
28 HP:0004322Short statureHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_002241.4(KCNJ10):c.889C>T (p.Arg297Cys)3766KCNJ10Pathogenic137853071RCV000007893; NMedGen:C2748572,OMIM:612780,ORPHA:1993431160011434160011434NM_002241.4:c.889C>TNP_002232.2:p.Arg297CysNC_000001.10:g.160011434G>AOMIM Allelic Variant:602208.0006C2748572 612780 SeSAME syndrome
NM_002241.4(KCNJ10):c.595C>T (p.Arg199Ter)3766KCNJ10Pathogenic137853067RCV000007889; NMedGen:C2748572,OMIM:612780,ORPHA:1993431160011728160011728NM_002241.4:c.595C>TNP_002232.2:p.Arg199TerNC_000001.10:g.160011728G>AOMIM Allelic Variant:602208.0002C2748572 612780 SeSAME syndrome
NM_002241.4(KCNJ10):c.524G>A (p.Arg175Gln)3766KCNJ10Pathogenic397514673RCV000034356; NMedGen:C2748572,OMIM:612780,ORPHA:1993431160011799160011799NM_002241.4:c.524G>ANP_002232.2:p.Arg175GlnNC_000001.10:g.160011799C>TOMIM Allelic Variant:602208.0013C2748572 612780 SeSAME syndrome
NM_002241.4(KCNJ10):c.500C>T (p.Ala167Val)3766KCNJ10Pathogenic137853070RCV000007892; NMedGen:C2748572,OMIM:612780,ORPHA:1993431160011823160011823NM_002241.4:c.500C>TNP_002232.2:p.Ala167ValNC_000001.10:g.160011823G>AOMIM Allelic Variant:602208.0005C2748572 612780 SeSAME syndrome
NM_002241.4(KCNJ10):c.491C>T (p.Thr164Ile)3766KCNJ10Pathogenic137853069RCV000007891; NMedGen:C2748572,OMIM:612780,ORPHA:1993431160011832160011832NM_002241.4:c.491C>TNP_002232.2:p.Thr164IleNC_000001.10:g.160011832G>AOMIM Allelic Variant:602208.0004C2748572 612780 SeSAME syndrome
NM_002241.4(KCNJ10):c.418T>C (p.Cys140Arg)3766KCNJ10Pathogenic137853068RCV000007890; NMedGen:C2748572,OMIM:612780,ORPHA:1993431160011905160011905NM_002241.4:c.418T>CNP_002232.2:p.Cys140ArgNC_000001.10:g.160011905A>GOMIM Allelic Variant:602208.0003C2748572 612780 SeSAME syndrome
NM_002241.4(KCNJ10):c.229G>C (p.Gly77Arg)3766KCNJ10Pathogenic137853072RCV000007894; NMedGen:C2748572,OMIM:612780,ORPHA:1993431160012094160012094NM_002241.4:c.229G>CNP_002232.2:p.Gly77ArgNC_000001.10:g.160012094C>GOMIM Allelic Variant:602208.0007C2748572 612780 SeSAME syndrome
NM_002241.4(KCNJ10):c.194G>C (p.Arg65Pro)3766KCNJ10Pathogenic137853066RCV000007888; NMedGen:C2748572,OMIM:612780,ORPHA:1993431160012129160012129NM_002241.4:c.194G>CNP_002232.2:p.Arg65ProNC_000001.10:g.160012129C>GOMIM Allelic Variant:602208.0001C2748572 612780 SeSAME syndrome
NM_002241.4(KCNJ10):c.193C>T (p.Arg65Cys)3766KCNJ10Pathogenic387906834RCV000023175; NMedGen:C2748572,OMIM:612780,ORPHA:1993431160012130160012130NM_002241.4:c.193C>TNP_002232.2:p.Arg65CysNC_000001.10:g.160012130G>AOMIM Allelic Variant:602208.0010C2748572 612780 SeSAME syndrome
NM_002241.4(KCNJ10):c.76C>T (p.Arg26Ter)3766KCNJ10Likely pathogenic138943405RCV000193637; NMedGen:C2748572,OMIM:612780,ORPHA:1993431160012247160012247NM_002241.4:c.76C>TNP_002232.2:p.Arg26TerNC_000001.10:g.160012247G>A-C2748572 612780 SeSAME syndrome