Arthritis, and Progressive visual loss

Diseases related with Arthritis and Progressive visual loss

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


Top matches:

Medium match MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1


Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). Genetic Heterogeneity of Age-Related Macular DegenerationARMD2 (OMIM ) is associated with mutation in the ABCR gene (OMIM ) on chromosome 1p, and ARMD3 (OMIM ) is caused by mutation in the FBLN5 gene (OMIM ) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4 ) appears to be explained by a polymorphism in the CFH gene ({134370.0008}). ARMD5 (OMIM ) and ARMD6 (OMIM ) are associated with mutation in the ERCC6 (OMIM ) and RAX2 (OMIM ) genes, respectively. ARMD7 (OMIM ) and ARMD8 (OMIM ), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (OMIM ) and ARMS2 (OMIM ) genes, respectively. ARMD9 (OMIM ) is associated with single-nucleotide polymorphisms in the C3 gene (OMIM ). ARMD10 (OMIM ) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (OMIM ). ARMD11 (OMIM ) is association with variation in the CST3 gene (OMIM ); ARMD12 (OMIM ) with variation in the CX3CR1 gene (OMIM ); and ARMD13 (OMIM ) with variation in the CFI gene (OMIM ). ARMD14 (OMIM ) is associated with variation in or near the C2 (OMIM ) and CFB (OMIM ) genes on chromosome 6p21. ARMD15 (OMIM ) is associated with variation in the C9 gene (OMIM ). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (OMIM ).A haplotype carrying deletion of the complement factor H-related genes CFHR1 (OMIM ) and CFHR3 (OMIM ) is also associated with reduced risk of ARMD.Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.

MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 Is also known as maculopathy, age-related, 1

Related symptoms:

  • Cataract
  • Visual impairment
  • Hypertension
  • Blindness
  • Visual loss


SOURCES: MESH OMIM MENDELIAN

More info about MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

Medium match LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY


Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Medium match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

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Other less relevant matches:

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

Low match SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Low match STICKLER SYNDROME TYPE 1


Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Low match JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

Low match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low match GIANT CELL ARTERITIS


Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

Low match ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Top 5 symptoms//phenotypes associated to Arthritis and Progressive visual loss

Symptoms // Phenotype % cases
Visual loss Very Common - Between 80% and 100% cases
Visual impairment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Progressive visual loss. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Recurrent infections Growth delay Nystagmus Sensorineural hearing impairment Seizures Short stature Stroke Pneumonia Mitral valve prolapse Motor delay Neoplasm Micrognathia Dilatation Osteoarthritis Arthralgia Cataract Edema Global developmental delay

Rare Symptoms - Less than 30% cases


Arrhythmia Furrowed tongue Carious teeth Muscle weakness Severe global developmental delay Hyperhidrosis Cerebellar hypoplasia Alopecia Abnormality of the dentition Truncal obesity Cryptorchidism Keratitis Reduced number of teeth Genu valgum Thrombocytopenia Hypohidrosis Mandibular prognathia Paralysis Growth hormone deficiency Delayed eruption of teeth Fever Abnormality of the skeletal system Abdominal pain Delayed skeletal maturation Joint hypermobility Epistaxis Aortic dissection Scoliosis Anemia Abnormality of epiphysis morphology Hypertelorism Strabismus Hypoplasia of the maxilla Retinal detachment Macrocephaly Joint hyperflexibility Proptosis Myopia Ptosis Pericarditis Elevated erythrocyte sedimentation rate Rheumatoid arthritis Myalgia Hepatosplenomegaly Delayed puberty Skin ulcer Obesity Generalized hypotonia Gout Peripheral neuropathy Cognitive impairment Scarring Failure to thrive Muscular hypotonia Ataxia Abnormal facial shape Reduced visual acuity Respiratory distress Neonatal hypotonia Immunodeficiency Intrauterine growth retardation Open mouth Osteomyelitis Progressive microcephaly Abnormality of retinal pigmentation Rhinitis Aseptic necrosis Long eyelashes Osteopetrosis Abnormal cranial nerve morphology Clumsiness Tall stature Gingival overgrowth Exotropia Preauricular skin tag Facial paralysis Leukopenia Low anterior hairline Radioulnar synostosis Hypocalcemia Constriction of peripheral visual field Joint dislocation Cranial nerve paralysis Abnormality of the metacarpal bones Cubitus valgus Failure to thrive in infancy Intracranial hemorrhage Precocious puberty Intellectual disability, progressive Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Hyperostosis Short metatarsal Laryngomalacia Recurrent skin infections Venous thrombosis High myopia Sandal gap Lumbar hyperlordosis Convex nasal ridge Decreased fetal movement Neurological speech impairment Abnormality of skin pigmentation Retinal degeneration Elevated serum acid phosphatase Arachnodactyly Astigmatism Smooth philtrum Tooth abscess Synophrys Finger syndactyly Thick eyebrow Small for gestational age Prominent nasal bridge Short philtrum Nyctalopia Retinopathy Wide mouth Mandibular osteomyelitis Protruding ear Respiratory tract infection Abnormal leukocyte morphology Lumbar scoliosis Narrow forehead Neutropenia Pigmentary retinopathy Cerebral hemorrhage Otitis media Aciduria Generalized osteosclerosis Prominent nose Extramedullary hematopoiesis Short metacarpal Microcornea Single transverse palmar crease Iris coloboma Tapered finger Highly arched eyebrow Small hand High, narrow palate Thick vermilion border Fractures of the long bones Hip osteoarthritis Cranial hyperostosis Retinal dystrophy Abnormality of dental morphology Narrow nasal bridge Disproportionate tall stature Joint stiffness Diplopia Anorexia Optic disc pallor Sudden cardiac death Hematuria Hepatic failure Vertigo Paresthesia Cough Neurodegeneration Vasculitis Recurrent fractures Ectodermal dysplasia Pancytopenia Conductive hearing impairment Abnormality of the metaphysis Weight loss Depressivity Headache Recurrent urinary tract infections Meningitis Short distal phalanx of finger Fatigue Mediastinal lymphadenopathy Retinal arteritis Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Arteritis Glossitis Gastrointestinal infarctions Frontal bossing Impaired mastication Abdominal aortic aneurysm Amaurosis fugax Abnormality of the pleura Ophthalmoparesis Recurrent pharyngitis Abnormal thrombocyte morphology Arterial thrombosis Cerebral ischemia Gangrene Visual field defect Diabetes insipidus Hydrocephalus Facial palsy Renal insufficiency Lymphedema Abnormality of the hip bone Vocal cord paralysis Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Deep venous thrombosis Misalignment of teeth Bone marrow hypocellularity Facial hypotonia Microglossia Thick hair Gingivitis Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Celiac disease Jaw claudication Tapetoretinal degeneration Iris atrophy Bone pain High-pitched cry Increased bone mineral density Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum Feeding difficulties in infancy Chorioretinal dysplasia Macrodontia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Postnatal growth retardation Arteriovenous malformation Intellectual disability, moderate Prematurely aged appearance Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Delayed menarche Immune dysregulation Concave nasal ridge Abnormality of the elbow Underdeveloped supraorbital ridges Proportionate short stature External genital hypoplasia Pain High pitched voice Short long bone Hypercholesterolemia Increased body weight Lymphopenia Short toe Chronic diarrhea Abnormal lung morphology Depressed nasal ridge Lymphoid interstitial pneumonia Pes cavus Hypoplasia of penis Thickened skin Reduced tendon reflexes Neoplasm of the skin Osteolysis Sparse eyelashes Conjunctivitis Knee flexion contracture Elbow flexion contracture Sparse and thin eyebrow Aganglionic megacolon Hyperkeratosis Fine hair Nail dysplasia Palmoplantar keratoderma Ichthyosis Nail dystrophy Sparse hair Erythema Carcinoma Photophobia Blue sclerae Eczema Scaling skin Foveal hypopigmentation Hyporeflexia Areflexia Absent speech Intellectual disability, mild Respiratory insufficiency Dysphagia Hyperreflexia Macular hemorrhage Polypoidal choroidal vasculopathy Babinski sign Macular drusen Geographic atrophy Choroidal neovascularization Drusen Emphysema Macular degeneration Abnormality of the cardiovascular system Hypopigmentation of the skin Hypertension Elevated serum creatine phosphokinase Cerebral cortical atrophy Microdontia Increased urinary hypoxanthine Deeply set eye Hypoglycemia High forehead Prominent forehead Severe short stature Diarrhea Brachydactyly Spinal cord posterior columns myelin loss Parietal cortical atrophy Muscle mounding Aggressive behavior Pancreatic fibrosis Low frustration tolerance Arnold-Chiari type I malformation Decreased nerve conduction velocity Recurrent upper respiratory tract infections Drooling Sensorimotor neuropathy Progressive muscle weakness Tetraplegia Urticaria Congenital sensorineural hearing impairment Joint laxity Iron deficiency anemia Hepatic arteriovenous malformation Pulmonary arteriovenous malformation Gastrointestinal carcinoma Cerebral arteriovenous malformation Hamartomatous polyposis Cavernous hemangioma Hematochezia Subarachnoid hemorrhage Colon cancer Juvenile gastrointestinal polyposis Clubbing Aortic aneurysm Hemangioma Telangiectasia Mitral regurgitation Hemiparesis Abnormality of extrapyramidal motor function Gastrointestinal hemorrhage Ventriculomegaly Intrapulmonary shunt Microcephaly Abnormal vitreous humor morphology Clinodactyly of the 5th finger Thin upper lip vermilion Pes planus Retrognathia Kyphoscoliosis Macrotia Gastroesophageal reflux Hypothyroidism Diabetes mellitus Rod-cone dystrophy Pectus excavatum High palate Hernia Microphthalmia Malar flattening Kyphosis Behavioral abnormality Cardiomyopathy Ventricular septal defect Downslanted palpebral fissures Depressed nasal bridge Abnormality of vertebral epiphysis morphology Platyspondyly Absent eyebrow Corneal erosion Squamous cell carcinoma of the skin Abnormality of the tongue Recurrent corneal erosions Corneal neovascularization Dystrophic fingernails Oral leukoplakia Hypoplastic fingernail Dystrophic toenail Abnormal eyelash morphology Corneal scarring Alopecia of scalp Keratoconjunctivitis sicca Severe hearing impairment Cellulitis Macule Aplasia/Hypoplasia of the eyebrow Squamous cell carcinoma Hemiplegia/hemiparesis Hypoplastic toenails Keratoconjunctivitis Recurrent bacterial skin infections Skeletal dysplasia Pleural effusion Long philtrum Short nose Cleft palate Serositis Anterior uveitis Elevated C-reactive protein level Juvenile rheumatoid arthritis Joint swelling Uveitis Falls Generalized hyperkeratosis Lymphadenopathy Skin rash Autoimmunity Splenomegaly Hepatomegaly Abnormality of corneal stroma Trichiasis Moderate hearing impairment Corneal ulceration Abnormality of the vertebral endplates



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Attention deficit hyperactivity disorder, related diseases and genetic alterations Lymphoma and Nail dysplasia, related diseases and genetic alterations Anemia and Constipation, related diseases and genetic alterations Hydrocephalus and Hypopigmentation of the skin, related diseases and genetic alterations Hepatomegaly and Ulcerative colitis, related diseases and genetic alterations Muscular hypotonia and Genu valgum, related diseases and genetic alterations

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