Tangier disease

General Information (adopted from Orphanet):

Synonyms, Signs: ANALPHALIPOPROTEINEMIA
HDLDT1
HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPE
HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1
TGD
Defective adenosine triphosphate-binding cassette transporter A1
Number of Symptoms 41
OrphanetNr: 31150
OMIM Id: 205400
ICD-10: E78.6
UMLs: C0039292
MeSH: D013631
MedDRA: 10051875
Snomed: 15346004

Prevalence, inheritance and age of onset:

Prevalence: 100 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Hypoalphalipoproteinemia
 -Rare endocrine disease
 -Rare genetic disease
Metabolic disease with corneal opacity
 -Rare eye disease
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Rare hereditary metabolic disease with peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Rare hereditary systemic disease with peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000656) Ectropion 25 / 7739
2
 (HPO:0001349) Facial diplegia 16 / 7739
3
 (HPO:0000505) Visual impairment 297 / 7739
4
 (HPO:0007957) Corneal opacity 84 / 7739
5
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
6
 (HPO:0009830) Peripheral neuropathy 206 / 7739
7
 (HPO:0007178) Motor polyneuropathy 31 / 7739
8
 (HPO:0001284) Areflexia 198 / 7739
9
 (HPO:0003477) Peripheral axonal neuropathy 62 / 7739
10
 (HPO:0007021) Pain insensitivity 35 / 7739
11
 (HPO:0007328) Impaired pain sensation 10 / 7739
12
 (HPO:0001265) Hyporeflexia 208 / 7739
13
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
14
 (HPO:0011096) Peripheral demyelination 28 / 7739
15
 (HPO:0010829) Impaired temperature sensation 5 / 7739
16
 (HPO:0002240) Hepatomegaly 467 / 7739
17
 (HPO:0001744) Splenomegaly 337 / 7739
18
 (HPO:0008404) Nail dystrophy 89 / 7739
19
 (HPO:0000958) Dry skin 152 / 7739
20
 (HPO:0002164) Nail dysplasia 82 / 7739
21
 (HPO:0002621) Atherosclerosis 33 / 7739
22
 (HPO:0001712) Left ventricular hypertrophy 76 / 7739
23
 (HPO:0001658) Myocardial infarction 30 / 7739
24
 (HPO:0005181) Premature coronary artery disease 5 / 7739
25
 (HPO:0003233) Hypoalphalipoproteinemia 18 / 7739
26
 (HPO:0003693) Distal amyotrophy 118 / 7739
27
 (OMIM) Heart disease, premature 1 / 7739
28
 (OMIM) Incomplete eyelid closure 1 / 7739
29
 (OMIM) Facial diplegia due to peripheral neuropathy 1 / 7739
30
 (OMIM) Exposure keratopathy 1 / 7739
31
 (OMIM) Decreased or absent apolipoprotein A-I 1 / 7739
32
 (OMIM) Pain and temperature sensation loss 1 / 7739
33
 (OMIM) Distal loss of facial hair 1 / 7739
34
 (OMIM) Accumulation of cholesterol esters in various tissues 1 / 7739
35
 (OMIM) Syringomyelia-like syndrome 1 / 7739
36
 (OMIM) Enlarged, yellow-orange tonsils 1 / 7739
37
 (OMIM) Deficient efflux of intracellular cholesterol 1 / 7739
38
 (OMIM) Decreased corneal sensation due to peripheral neuropathy 1 / 7739
39
 (OMIM) Decreased serum HDL cholesterol 1 / 7739
40
 (OMIM) Nerve biopsy showed demyelination, remyelination, and deposition of fat droplets in axons 1 / 7739
41
 (OMIM) Distal muscle atrophy due to peripheral neuropathy 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density lipoproteins (HDL) resulting in tissue accumulation of cholesterol esters. Clinical features include very large, yellow-orange tonsils, enlarged liver, spleen and lymph nodes, ...
Clinical Description OMIM Tangier disease was originally described and named on the basis of a kindred living in Tangier Island in the Chesapeake Bay (Fredrickson et al., 1961), most of whom were descendants of first settlers of 1686. Other affected families ...
Molecular genetics OMIM - Exclusion of a Defect in the Apolipoprotein A-I Gene

HDL is the designation of lipoproteins derived from density properties revealed by ultracentrifugation; alphalipoprotein is the designation based on mobility in an electrophoretic system. The apoproteins ...
Population genetics OMIM Young and Fielding (1999) stated that the inhabitants of Tangier Island in the Chesapeake Bay 'still speak a unique Elizabethan dialect, and three-quarters of them bear one of four surnames from the original group of founders.'