Familial amyloid polyneuropathy

General Information (adopted from Orphanet):

Synonyms, Signs: FAP AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, INCLUDED
HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED
AMYLOID POLYNEUROPATHY, FAMILIAL
AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED, INCLUDED
TRANSTHYRETIN AMYLOIDOSIS
Transthyretin amyloid polyneuropathy
TTR amyloid neuropathy
Transthyretin amyloid neuropathy
Number of Symptoms 40
OrphanetNr: 85447
OMIM Id: 105210
ICD-10: E85.1
UMLs:
MeSH:
MedDRA:
Snomed: 42295001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial transthyretin-related amyloidosis
 -Rare genetic disease
 -Rare systemic or rheumatologic disease
Rare hereditary systemic disease with peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000020) Urinary incontinence 75 / 7739
2
(HPO:0000802) Impotence 20 / 7739
3
(HPO:0007841) Amyloid deposition in the vitreous humor 2 / 7739
4
(HPO:0000639) Nystagmus 555 / 7739
5
(HPO:0000505) Visual impairment 297 / 7739
6
(HPO:0000365) Hearing impairment 539 / 7739
7
(HPO:0002459) Dysautonomia 34 / 7739
8
(HPO:0001269) Hemiparesis 51 / 7739
9
(HPO:0001337) Tremor 200 / 7739
10
(HPO:0010550) Paraplegia 10 / 7739
11
(HPO:0001257) Spasticity 251 / 7739
12
(HPO:0001265) Hyporeflexia 208 / 7739
13
(HPO:0002315) Headache 175 / 7739
14
(HPO:0002922) Increased CSF protein 27 / 7739
15
(HPO:0004926) Orthostatic hypotension due to autonomic dysfunction 2 / 7739
16
(HPO:0001260) Dysarthria 329 / 7739
17
(HPO:0001271) Polyneuropathy 56 / 7739
18
(HPO:0003477) Peripheral axonal neuropathy 62 / 7739
19
(HPO:0000726) Dementia 131 / 7739
20
(HPO:0001251) Ataxia 413 / 7739
21
(HPO:0001250) Seizures 1245 / 7739
22
(HPO:0002014) Diarrhea 225 / 7739
23
(HPO:0002019) Constipation 194 / 7739
24
(HPO:0001638) Cardiomyopathy 192 / 7739
25
(HPO:0002401) Stroke-like episodes 10 / 7739
26
(HPO:0001640) Cardiomegaly 81 / 7739
27
(HPO:0011034) Amyloidosis 12 / 7739
28
(HPO:0001324) Muscle weakness 859 / 7739
29
(OMIM) Gastrointestinal dysautonomia 2 / 7739
30
(HPO:0003676) Progressive disorder 148 / 7739
31
(HPO:0003581) Adult onset 117 / 7739
32
(OMIM) Ascending numbness and weakness 2 / 7739
33
(OMIM) Amyloid deposition in the leptomeningeal vessels, brainstem, spinal cord 2 / 7739
34
(OMIM) Diffuse leptomeningeal enhancement seen on MRI 2 / 7739
35
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
36
(OMIM) Axonal sensory polyneuropathy 4 / 7739
37
(MedDRA:10007697) Carpal tunnel syndrome 16 / 7739
38
(HPO:0003812) Phenotypic variability 129 / 7739
39
(OMIM) Conduction block 2 / 7739
40
(OMIM) Muscle weakness due to peripheral neuropathy 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary amyloidoses are a clinically and genetically heterogeneous group of autosomal dominantly inherited diseases characterized by the deposit of unsoluble protein fibrils in the extracellular matrix (summary by Hund et al., 2001). Patients with transthyretin amyloidosis typically present ...
Clinical Description OMIM - Familial Amyloid Polyneuropathy

Familial amyloid polyneuropathy (FAP) was described by Andrade (1952) in the northern area of Portugal (reviewed by Saraiva, 2001). Kindreds had an age of onset of clinical symptoms in the third or ...

Molecular genetics OMIM The genetic defect in the kindreds from northern Portugal described by Andrade (1952) was heterozygosity for a valine-to-methionine substitution at residue 30 of transthyretin (V30M; 176300.0001) (Saraiva et al., 1984). Saraiva (2001) reported that over 500 kindreds had ...