Arthritis, and Photophobia

Diseases related with Arthritis and Photophobia

In the following list you will find some of the most common rare diseases related to Arthritis and Photophobia that can help you solving undiagnosed cases.


Top matches:

Medium match SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1


Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders comprising the prototype ankylosing spondylitis (AS), a subset of psoriatic arthritis (PsA), reactive arthritis (ReA), arthritis associated with inflammatory bowel disease, and undifferentiated spondyloarthropathy (Miceli-Richard et al., 2004). These phenotypes are difficult to differentiate because they may occur simultaneously or sequentially in the same patient. Studies have suggested that a predominant shared component, including HLA-B27, predisposes to all phenotypic subsets, and that these subsets should be considered as various phenotypic expressions of the same disease (Said-Nahal et al., 2000, Said-Nahal et al., 2001).Braun and Sieper (2007) provided a detailed review of ankylosing spondylitis, including clinical features, pathogenesis, and management. Genetic Heterogeneity of Susceptibility to SpondyloarthropathyAdditional susceptibility loci for spondyloarthropathy have been identified on chromosome 9q31-q34 (SPDA2 ) and chromosome 2q36 (SPDA3 ).

SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 Is also known as ankylosing spondylitis, susceptibility to|marie-strumpell spondylitis|bechterew syndrome

Related symptoms:

  • Pain
  • Kyphosis
  • Arrhythmia
  • Photophobia
  • Arthritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1

Medium match AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK


Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

Medium match KID SYNDROME


Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Medium match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Low match GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D


Related symptoms:

  • High palate
  • Glaucoma
  • Osteopenia
  • Photophobia
  • Corneal opacity


SOURCES: MESH OMIM MENDELIAN

More info about GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D

Low match ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11


Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11 Is also known as arih|ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis|ichthyosis with hypotrichosis, autosomal recessive|ifah

Related symptoms:

  • Flexion contracture
  • Abnormality of the dentition
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11

Low match ACHROMATOPSIA 4; ACHM4


Achromatopsia, also referred to as rod monochromacy, is an autosomal recessive ocular disorder characterized by total colorblindness, low visual acuity, photophobia, and nystagmus (Kohl et al., 2002).For a general description and a discussion of genetic heterogeneity of achromatopsia, see {216900}.

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Photophobia
  • Achromatopsia
  • Monochromacy


SOURCES: OMIM MESH MENDELIAN

More info about ACHROMATOPSIA 4; ACHM4

Low match PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME


PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

Low match CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME


ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Photophobia

Symptoms // Phenotype % cases
Erythema Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Scarring Uncommon - Between 30% and 50% cases
Keratoconjunctivitis sicca Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Arthritis and Photophobia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Uveitis Hyperkeratosis Fever Ichthyosis Epiphora Papule Visual impairment Splenomegaly Flexion contracture Hyperhidrosis Blindness Anterior uveitis Inflammation of the large intestine Glaucoma Cataract Seizures

Rare Symptoms - Less than 30% cases


Pes cavus Weight loss Visual loss Aganglionic megacolon Sparse hair Headache Nail dystrophy Renal insufficiency Palmoplantar keratoderma Microcephaly Abnormality of the dentition Global developmental delay Chest pain Hypohidrosis Corneal opacity Hemoptysis Osteolysis Blurred vision Fatigue Cough Scaling skin Absent eyebrow Ataxia Pleural effusion Anorexia Lymphadenopathy Subcutaneous nodule Sparse and thin eyebrow Dyspnea Growth delay Sensorineural hearing impairment Iridocyclitis Keratitis Hemolytic anemia Anemia Chorioretinitis Dry skin Autoimmunity Erythema nodosum Diarrhea Corneal neovascularization Aortic regurgitation Arrhythmia Intellectual disability Edema Short stature Hearing impairment Neoplasm Palpitations Pneumothorax Cystoid macular edema Anterior synechiae of the anterior chamber Abnormality of the pleura Vitreous hemorrhage Night sweats Chylothorax Portal hypertension Abnormality of the lymph nodes Pancytopenia Facial palsy Vitreous floaters Abnormal conjunctiva morphology Abnormal salivary gland morphology Hypothyroidism Proximal muscle weakness Dacryocystitis Abnormality of the adrenal glands Abnormality of the cerebrospinal fluid Hepatic failure Hypopigmentation of the skin Sudden cardiac death Syncope Skin plaque Generalized lymphadenopathy Skin nodule Hypothermia Abnormal lung morphology Interstitial pulmonary abnormality Diabetes insipidus Emphysema Hypercalcemia Pulmonary fibrosis Hypercalciuria Eosinophilia Ventricular tachycardia Vitritis Chorioretinal atrophy Leukopenia Nephrocalcinosis Decreased liver function Elevated erythrocyte sedimentation rate Abnormality of the musculature Bone cyst Hyperpigmentation of the skin Hyperthyroidism Hyperuricemia Bronchiectasis Optic neuropathy Joint swelling Heart block Increased CSF protein Nephrolithiasis Tubulointerstitial nephritis Abnormality of the gastrointestinal tract Upper airway obstruction Macular edema Immune dysregulation Increased antibody level in blood Tall stature Abnormal reproductive system morphology Cerebellar atrophy Telangiectasia Cutaneous photosensitivity Neurodegeneration Unsteady gait Mental deterioration Immunodeficiency Dysphagia Progressive sensorineural hearing impairment Dysarthria Muscle weakness Monochromacy Achromatopsia Nystagmus Generalized hypotrichosis Progressive muscle weakness Conjunctival telangiectasia Eclabion Brain atrophy Abnormality of visual evoked potentials Aspiration Intellectual disability, profound High myopia Spastic tetraplegia Delayed myelination Asthma Generalized hypotonia Generalized myoclonic seizures Tetraplegia Pallor Inguinal hernia Hernia Hypertonia Myopia Orthokeratosis Subungual hyperkeratosis Abnormality of skin morphology Abnormality of the nasal mucosa High palate Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Maculopapular exanthema Increased T cell count Joint hypermobility Abnormal cardiac ventricular function Parotitis Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Abnormality of T cell physiology Enlargement of parotid gland Posterior vitreous detachment Osteopenia Congestive heart failure Congenital nonbullous ichthyosiform erythroderma Erythroderma Pili torti Blepharitis Curly hair Sparse body hair Congenital ichthyosiform erythroderma Anhidrosis Ectropion Ectopia lentis Brittle hair Hypotrichosis Primary congenital glaucoma Buphthalmos Increased intraocular pressure Congenital glaucoma Disproportionate tall stature Thrombocytopenia Pulmonary infiltrates Respiratory distress Alopecia of scalp Knee flexion contracture Conjunctivitis Sparse eyelashes Neoplasm of the skin Reduced tendon reflexes Urticaria Congenital sensorineural hearing impairment Hypoplastic toenails Hemiplegia/hemiparesis Squamous cell carcinoma Aplasia/Hypoplasia of the eyebrow Macule Cellulitis Severe hearing impairment Abnormal eyelash morphology Skin ulcer Squamous cell carcinoma of the skin Moderate hearing impairment Corneal ulceration Generalized hyperkeratosis Recurrent bacterial skin infections Corneal scarring Keratoconjunctivitis Abnormality of the tongue Corneal erosion Recurrent corneal erosions Dystrophic fingernails Oral leukoplakia Hypoplastic fingernail Furrowed tongue Dystrophic toenail Elbow flexion contracture Thickened skin Abnormality of corneal stroma Sacroiliac arthritis Atrophic scars Chronic diarrhea Epidermal acanthosis Hepatosplenomegaly Respiratory insufficiency Failure to thrive Enthesitis Thyroiditis Hip osteoarthritis Ocular pain Chronic pain Breathing dysregulation Psoriasiform dermatitis Back pain Autoimmune hemolytic anemia Antinuclear antibody positivity Fine hair Cerebellar hypoplasia Progressive visual loss Nail dysplasia Delayed eruption of teeth Carious teeth Severe global developmental delay Carcinoma Delayed skeletal maturation Follicular hyperkeratosis Cryptorchidism Punctate keratitis Comedo Polyarticular arthritis Increased IgA level Villous atrophy Trichiasis Hyperreflexia Skeletal muscle atrophy Pleuritis Aseptic necrosis Pustule Kyphosis Gangrene Raynaud phenomenon Myositis Cerebral ischemia Abnormal myocardium morphology Arterial thrombosis Recurrent aphthous stomatitis Stomatitis Alopecia areata Endocarditis Oral ulcer Thrombophlebitis Pericarditis Panuveitis Hepatomegaly Peripheral neuropathy Hypopyon Decreased level of D-mannose in urine Epididymitis Genital ulcers Superficial thrombophlebitis Immunologic hypersensitivity Orchitis Retrobulbar optic neuritis Iritis Increased inflammatory response Posterior uveitis Optic neuritis Pulmonary embolism Glomerulopathy Gait disturbance Irritability Malabsorption Nausea and vomiting Stroke Abnormal pyramidal sign Retinopathy Joint stiffness Developmental regression Confusion Myalgia Arthralgia Reduced visual acuity Abdominal pain Dilatation Behavioral abnormality Paresthesia Vertigo Acne Vasculitis Rheumatoid arthritis Encephalitis Increased intracranial pressure Venous thrombosis Cranial nerve paralysis Pancreatitis Meningitis Migraine Mitral regurgitation Hemiparesis Myocardial infarction Abnormal blistering of the skin Memory impairment Gastrointestinal hemorrhage Drusen



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Ascites, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more