amyloidosis, hereditary systemic 1
MONDO:0971004Mondo
Findings
No curated finding names amyloidosis, hereditary systemic 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Progressive
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Amyloid depositionHPOHP:0011034
- 4 of 4 reported patients
- Increased CSF protein concentrationHPOHP:0002922
- 4 of 4 reported patients
- Abnormal pyramidal signHPOHP:0007256
- 2 of 4 reported patients
- AtaxiaHPOHP:0001251
- 2 of 4 reported patients
- ConfusionHPOHP:0001289
- 2 of 4 reported patients
- ConstipationHPOHP:0002019
- 2 of 4 reported patients
- Episodic vomitingHPOHP:0002572
- 2 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 2 of 4 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 4 reported patients
- AnxietyHPOHP:0000739
- 1 of 4 reported patients
- Auditory hallucinationHPOHP:0008765
- 1 of 4 reported patients
- DiplopiaHPOHP:0000651
- 1 of 4 reported patients
Show the remaining 12
- Facial ticsHPOHP:0011468
- 1 of 4 reported patients
- HallucinationsHPOHP:0000738
- 1 of 4 reported patients
- High myopiaHPOHP:0011003
- 1 of 4 reported patients
- Horizontal nystagmusHPOHP:0000666
- 1 of 4 reported patients
- Intention tremorHPOHP:0002080
- 1 of 4 reported patients
- Limb ataxiaHPOHP:0002070
- 1 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TTRHGNC:12405
- Definitive · G2P · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (2)