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Items: 7

1.

AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF

MedGen UID:
864773
Concept ID:
C4016336
Finding
2.

TRANSTHYRETIN POLYMORPHISM

MedGen UID:
864772
Concept ID:
C4016335
Finding
3.

Carpal tunnel syndrome, familial

MedGen UID:
854010
Concept ID:
C3468338
Disease or Syndrome
4.

Amyloid Cardiomyopathy, Transthyretin-related

MedGen UID:
462821
Concept ID:
C3151471
Disease or Syndrome
5.

AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED

MedGen UID:
462820
Concept ID:
C3151470
Disease or Syndrome
6.

Dystransthyretinemic euthyroidal hyperthyroxinemia

Dystransthyretinemic hyperthyroxinemia is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals (summary by Moses et al., 1990). [from OMIM]

MedGen UID:
442573
Concept ID:
C2750824
Disease or Syndrome
7.

Amyloidogenic transthyretin amyloidosis

Familial transthyretin (TTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor neuropathy and autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesias and hypesthesias of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include: orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage. [from GeneReviews]

MedGen UID:
414031
Concept ID:
C2751492
Disease or Syndrome
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