Salt and pepper developmental regression syndrome

Preferred Label : Salt and pepper developmental regression syndrome;

Symbol : SPDRS;

CISMeF acronym : SPDRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Salt and pepper mental retardation syndrome; Epilepsy syndrome, infantile-onset symptomatic; Gm3 synthase deficiency; Amish infantile epilepsy syndrome;

Description : Amish infantile epilepsy syndrome is an autosomal recessive neurologic disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sialyltransferase-9 gene (SIAT9, 604402.0001);

Prefixed ID : #609056;

Details

Origin ID

609056;

UMLS CUI

C1836824;

Automatic exact mappings (from CISMeF team)
- GM3 synthase deficiency [ORDO Disease]
- Ganglioside GM3 synthase deficiency (disorder) [SNOMED CT concept]
- Lactosylceramide alpha-2,3-sialyltransferase deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Amish infantile epilepsy syndrome [ORDO Disease]
- amish infantile epilepsy syndrome [MeSH concept]
- amish infantile epilepsy syndrome [MeSH Supplementary Concept]
DO Cross reference
- salt and pepper syndrome [DO Concept]
Genes related to phenotype
- St3 beta-galactoside alpha-2,3-sialyltransferase 5 [OMIM gene]
HPO term(s)
- Abnormality of skin pigmentation [HPO term]
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebral visual impairment [HPO term]
- Choreoathetosis [HPO term]
- Developmental regression [HPO term]
- Developmental stagnation at onset of seizures [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global brain atrophy [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypermelanotic macule [HPO term]
- Hyporeflexia of upper limbs [HPO term]
- Hypotonia [HPO term]
- Irritability [HPO term]
- Lower limb hyperreflexia [HPO term]
- Microcephaly [HPO term]
- Multifocal epileptiform discharges [HPO term]
- Myoclonus [HPO term]
- Non-purposeful arm movements, choreoathetoid-like [HPO term]
- Optic atrophy [HPO term]
- Status epilepticus [HPO term]
- Visual loss [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- GM3 synthase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amish infantile epilepsy syndrome [ORDO Disease]
- Ganglioside GM3 synthase deficiency (disorder) [SNOMED CT concept]
- amish infantile epilepsy syndrome [MeSH Supplementary Concept]
- amish infantile epilepsy syndrome [MeSH concept]

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