Details of Disease | DrugMAP

General Information of Disease (ID: DIS0DATV)

Disease Name	Amelocerebrohypohidrotic syndrome
Synonyms	epilepsy and Yellow teeth; KOHLSCHUTTER-Tonz syndrome; KTZS; Kohlschutter syndrome; Kohlschutter Tonz syndrome; epilepsy dementia amelogenesis imperfecta; epilepsy, dementia, and amelogenesis imperfecta; epilepsy-dementia-amelogenesis imperfecta syndrome; amelocerebrohypohidrotic syndrome; Kohlschutter-Tonz syndrome
Definition	Kohlschtter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.
Disease Hierarchy	DISLRS4M: Ectodermal dysplasia DIS0DATV: Amelocerebrohypohidrotic syndrome
Disease Identifiers	MONDO ID MONDO_0009185 MESH ID C537213 UMLS CUI C0406740 OMIM ID 226750 MedGen ID 98036 Orphanet ID 1946 SNOMED CT ID 109478007

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
SLC13A5	TTFIMH7	Strong	Biomarker	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC13A5	DTFPWJ9	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Limited	Genetic Variation	[2]
HSD17B10	DEGSPC9	Limited	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACADSB	OTDO6HBG	Limited	Biomarker	[2]
AUH	OT8VKBXX	Limited	Biomarker	[2]
FKBP14	OT55W5WC	Limited	Genetic Variation	[2]
SLC13A5	OTPH1TA7	Supportive	Autosomal recessive	[1]
ROGDI	OTZ7LSKJ	Definitive	Autosomal recessive	[3]
------------------------------------------------------------------------------------

References

1	SLC13A5 is the second gene associated with Kohlschtter-T?nz syndrome. J Med Genet. 2017 Jan;54(1):54-62. doi: 10.1136/jmedgenet-2016-103988. Epub 2016 Sep 6.
2	Genotype-based databases for variants causing rare diseases.Gene. 2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.