Huntington disease-like 1: genes and variants

Huntington disease-like 1 is linked to 1 analyzed protein (PRNP). 13 DNA variants are known to cause it; 36 more are uncertain, and 1 of those already look disease-causing on computable evidence.

Last updated 2026-09-30. Research information, not medical advice.

Genes linked to Huntington disease-like 1

PRNP: Major prion protein
Its normal cellular form is enriched in the nervous system, but misfolding into self-propagating conformations can template further protein conversion. This process causes prion diseases, while germline pathogenic variants underlie inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker disease, and fatal familial insomnia.
13 disease-causing and 36 uncertain variants in PRNP are linked to Huntington disease-like 1.

Known disease-causing variants in Huntington disease-like 1

Variant	Position	Protein part	Clinical label
PRNP G131V	131	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★★)
PRNP R148H	148	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★★)
PRNP P102L	102	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★★)
PRNP D178N	178	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★★)
PRNP T183A	183	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★★)
PRNP T188R	188	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★★)
PRNP F198S	198	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★★)
PRNP E200K	200	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★★)
PRNP Q217R	217	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★★)
PRNP R208H	208	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★★)
PRNP V210I	210	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★★)
PRNP V180I	180	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★)
PRNP A117V	117	Interaction with GRB2, ERI3 and SYN1	Disease-causing (★)

Uncertain variants in Huntington disease-like 1 that look disease-causing

Variant	Position	Protein part	Clinical label	Evidence
PRNP R208C	208	Interaction with GRB2, ERI3 and SYN1	Uncertain (★)	+7: 2 other pathogenic changes within 3 positions; R208H at the same position is pathogenic; seen in 6.6e-06 of gnomAD DNA copies; REVEL 0.839

Same protein, different disease

Gerstmann-Straussler-Scheinker syndrome is also caused by PRNP variants; they fall in the same places as the Huntington disease-like 1 variants (8 disease-causing).

Diseases related to Huntington disease-like 1

Gerstmann-Straussler-Scheinker syndrome, also linked to PRNP
Inherited Creutzfeldt-Jakob disease, also linked to PRNP
Spongiform encephalopathy with neuropsychiatric features, also linked to PRNP
Fatal familial insomnia, also linked to PRNP
Dementia, also linked to PRNP
Kuru, susceptibility to, also linked to PRNP

Frequently asked questions

Which genes are linked to Huntington disease-like 1?

In CATVariant, Huntington disease-like 1 is linked to 1 analyzed protein: PRNP (Major prion protein).

How many genetic variants are linked to Huntington disease-like 1?

56 variants: 13 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 36 are of uncertain significance or have conflicting reports.

Which uncertain variants in Huntington disease-like 1 look disease-causing?

1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example PRNP R208C. These are leads for expert review, not diagnoses.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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