Details of Disease | DrugMAP

General Information of Disease (ID: DIS7LD74)

Disease Name	Allan-Herndon-Dudley syndrome
Synonyms	T3 resisitence; intellectual disability and muscular atrophy; T3 resistance; triiodothyronine resistence; monocarboxylate transporter-8 deficiency; intellectual disability, X-linked, with hypotonia; mental retardation and muscular atrophy; triiodothyronine resistance; ALLAN-Herndon-DUDLEY syndrome; Allan-Herndon syndrome; mental retardation, X-linked, with hypotonia; X-linked intellectual disability with hypotonia; AHDS; Allan-Herndon-Dudley syndrome; MCT8 deficiency; MCT8-specific thyroid hormone cell Membrane transporter deficiency; X-linked intellectual disability-hypotonia syndrome; MCT8-Specific Thyroid Hormone Cell Transporter Deficiency; monocarboxylate transporter 8 deficiency; ALLAN-Herndon syndrome
Definition	A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DIS7LD74: Allan-Herndon-Dudley syndrome
Disease Identifiers	MONDO ID MONDO_0010354 MESH ID C537047 UMLS CUI C0795889 OMIM ID 300523 MedGen ID 208645 Orphanet ID 59 SNOMED CT ID 702327009

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
SLCO1C1	TT340CE	Limited	Genetic Variation	[1]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC16A2	DTQ8MP1	Definitive	X-linked	[2]
SLC16A2	DTQ8MP1	Definitive	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC16A2	OTLRA7C0	Definitive	X-linked	[2]
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References

1	Neural Alterations and Hyperactivity of the Hypothalamic-Pituitary-Thyroid Axis in Oatp1c1 Deficiency.Thyroid. 2020 Jan;30(1):161-174. doi: 10.1089/thy.2019.0320.
2	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.