In the following list you will find some of the most common rare diseases related to Autoimmunity and Corneal dystrophy that can help you solving undiagnosed cases.
Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3 Is also known as corneal dystrophy, fuchs endothelial, late-onset|fcd2 locus
Related symptoms:
Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (OMIM ).
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4 Is also known as corneal dystrophy, fuchs endothelial, late-onset
Related symptoms:
Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of FECD, see FECD1 (OMIM ).
Related symptoms:
Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.
LACRIMOAURICULODENTODIGITAL SYNDROME Is also known as ladd syndrome|levy-hollister syndrome|lacrimoauriculoradiodental syndrome|lard syndrome
Related symptoms:
SOURCES: OMIM ORPHANET MENDELIAN
More info about LACRIMOAURICULODENTODIGITAL SYNDROMEXeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993).For a general discussion of xeroderma pigmentosum, see XPA (OMIM ).
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC Is also known as xp, group c|xp3|xpcc|xeroderma pigmentosum iii
Related symptoms:
Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.
IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency
Related symptoms:
SOURCES: OMIM ORPHANET MENDELIAN
More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCYFuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.
FUCHS ENDOTHELIAL CORNEAL DYSTROPHY Is also known as fecd|late hereditary endothelial dystrophy|endoepithelial corneal dystrophy
Related symptoms:
Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).
Related symptoms:
Symptoms // Phenotype | % cases |
---|---|
Edema | Uncommon - Between 30% and 50% cases |
Cataract | Rare - less than 30% cases |
Systemic lupus erythematosus | Rare - less than 30% cases |
Arthralgia | Rare - less than 30% cases |
Xerostomia | Rare - less than 30% cases |
Patients with Autoimmunity and Corneal dystrophy. may also develop some of the following symptoms:
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Encephalocele, related diseases and genetic alterations