Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance

Preferred Label : Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance;

Symbol : SESAMES;

CISMeF acronym : SESAMES;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sesame syndrome; East syndrome; Epilepsy, ataxia, sensorineural deafness, and tubulopathy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the potassium channel, inwardly rectifying, subfamily J, member 10 gene (KCNJ10, 602208.0001);

Laboratory abnormalities : Hypokalemia; Hypomagnesemia; Hypocalciuria; Increased plasma renin; Increased plasma aldosterone;

Prefixed ID : #612780;

Détails

Origin ID

612780;

UMLS CUI

C2748572;

Automatic exact mappings (from CISMeF team)
- SeSAME syndrome [ICD-11 More detail]
- sesame [MeSH concept]
- sesamum [MeSH Descriptor]
Currated CISMeF NLP mapping
- EAST syndrome [DO Concept]
- EAST syndrome [ORDO Disease]
- SeSAME syndrome [MeSH concept]
- SeSAME syndrome [MeSH Supplementary Concept]
- Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- EAST syndrome [DO Concept]
Genes related to phenotype
- Potassium channel, inwardly rectifying, subfamily j, member 10 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Chronic axonal neuropathy [HPO term]
- Delayed speech and language development [HPO term]
- Dysdiadochokinesis [HPO term]
- Enuresis [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperaldosteronism [HPO term]
- Hypocalciuria [HPO term]
- Hypokalemia [HPO term]
- Hypokalemic metabolic alkalosis [HPO term]
- Hypomagnesemia [HPO term]
- Hypotonia [HPO term]
- Increased circulating renin level [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intention tremor [HPO term]
- Peripheral hypomyelination [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Renal potassium wasting [HPO term]
- Renal salt wasting [HPO term]
- Renal sodium wasting [HPO term]
- Salt craving [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
Not associated HPO term(s)
- Hypertension [HPO term]
ORDO concept(s)
- EAST syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- EAST syndrome [ORDO Disease]
- EAST syndrome [DO Concept]
- Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome (disorder) [SNOMED CT concept]
- SeSAME syndrome [MeSH Supplementary Concept]
- SeSAME syndrome [MeSH concept]
- Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) [SNOMED CT concept]

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