Autoimmunity, and Corneal dystrophy

Diseases related with Autoimmunity and Corneal dystrophy

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.


Top matches:

Low match CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3


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:

  • Visual impairment
  • Edema
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3

Low match CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4


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:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4

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Other less relevant matches:

Low match CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8


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:

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8

Low match LACRIMOAURICULODENTODIGITAL SYNDROME


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:

  • Irritability
  • Autoimmunity
  • Carious teeth
  • Epiphora
  • Keratoconjunctivitis sicca


SOURCES: OMIM ORPHANET MENDELIAN

More info about LACRIMOAURICULODENTODIGITAL SYNDROME

Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC


Xeroderma 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:

  • Neoplasm
  • Hyperactivity
  • Photophobia
  • Carcinoma
  • Abnormality of the nervous system


SOURCES: OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

Low match IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY


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:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

Low match FUCHS ENDOTHELIAL CORNEAL DYSTROPHY


Fuchs 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:

  • Cataract
  • Blindness
  • Abnormality of the eye
  • Opacification of the corneal stroma
  • Corneal dystrophy


SOURCES: ORPHANET MENDELIAN

More info about FUCHS ENDOTHELIAL CORNEAL DYSTROPHY

Low match YAO SYNDROME; YAOS


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:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

Top 5 symptoms//phenotypes associated to Autoimmunity and Corneal dystrophy

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
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Other less frequent symptoms

Patients with Autoimmunity and Corneal dystrophy. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Pain Keratoconjunctivitis sicca Fever Skin rash Reduced visual acuity Keratitis Facial erythema Macroscopic hematuria IgA deposition in the glomerulus Discoid lupus rash Membranoproliferative glomerulonephritis Hepatitis Microscopic hematuria Glomerulopathy Glomerulonephritis Meningitis Decreased serum complement factor I Hematuria Nephropathy Erythema Loss of eyelashes Diarrhea Blindness Inflammatory abnormality of the skin Oral ulcer Episodic abdominal pain Uveitis Episodic fever Pericarditis Elevated erythrocyte sedimentation rate Blurred vision Nephrolithiasis Ventricular hypertrophy Abnormality of the eye Asthma Chest pain Papule Camptodactyly Arthritis Myalgia Weight loss Abdominal pain Opacification of the corneal stroma Proteinuria Corneal opacity Pneumonia Lacrimal duct atresia Hyperactivity Neoplasm Lacrimal gland aplasia Lacrimal gland hypoplasia Absent lacrimal punctum Decreased lacrimation Dacryocystitis Alacrima Carcinoma Keratoconjunctivitis Chronic obstructive pulmonary disease Periodontitis Premature loss of teeth Epiphora Carious teeth Irritability Visual impairment Photophobia Abnormality of the nervous system Recurrent infections Freckling Immunodeficiency Renal insufficiency Defective DNA repair after ultraviolet radiation damage Cutaneous melanoma Squamous cell carcinoma of the skin Entropion Poikiloderma Basal cell carcinoma Hypopigmentation of the skin Squamous cell carcinoma Ectropion Dermal atrophy Melanoma Neoplasm of the skin Conjunctivitis Telangiectasia Cutaneous photosensitivity Pleuritis



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