Details of Disease | DrugMAP

General Information of Disease (ID: DISGBLN0)

Disease Name	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Synonyms	MRT48; intellectual disability, autosomal recessive 48; mental retardation, autosomal recessive 48; mental retardation, autosomal recessive type 48; intellectual disability, autosomal recessive type 48
Disease Hierarchy	DISD715V: Hereditary neurological disease DIS1BLHT: Inborn disorder of amino acid transport DISOJJ2D: Movement disorder DISGBLN0: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Disease Identifiers	MONDO ID MONDO_0014559 UMLS CUI C4225395 OMIM ID 616269 MedGen ID 895952 Orphanet ID 457212 SNOMED CT ID 1260130005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC6A17	TTIMLZ6	Limited	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC6A17	DT1VX0F	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC6A17	OTHJFW2G	Strong	Autosomal recessive	[1]
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References

1	Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. Am J Hum Genet. 2015 Mar 5;96(3):386-96. doi: 10.1016/j.ajhg.2015.01.010. Epub 2015 Feb 19.