Arthritis, and Macular degeneration

Diseases related with Arthritis and Macular degeneration

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


Top matches:

Low 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

Low match SNOWFLAKE VITREORETINAL DEGENERATION


Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.

SNOWFLAKE VITREORETINAL DEGENERATION Is also known as snowflake vitreoretinal degeneration

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Arthritis
  • Cleft lip


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SNOWFLAKE VITREORETINAL DEGENERATION

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

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Other less relevant matches:

Low match NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1


Nephronophthisis is an autosomal recessive cystic kidney disease characterized by onset of end-stage renal failure in the first 3 decades of life. The disorder is often associated with extrarenal manifestations, including liver fibrosis, retinal degeneration, and central nervous system abnormalities (summary by O'Toole et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

Low match MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2


MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 Is also known as maculopathy, age-related, 2|macular degeneration, senile

Related symptoms:

  • Macular degeneration


SOURCES: MESH OMIM MENDELIAN

More info about MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2

Low match MUCOLIPIDOSIS TYPE III ALPHA/BETA


Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

MUCOLIPIDOSIS TYPE III ALPHA/BETA Is also known as ml iii|mucolipidosis type 3 alpha/beta|pseudo-hurler polydystrophy|mucolipidosis iiia|ml iii alpha/beta|ml iiia|ml 3 alpha/beta|mucolipidosis iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III ALPHA/BETA

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Top 5 symptoms//phenotypes associated to Arthritis and Macular degeneration

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Retinal degeneration Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Myopia Pain Vitreoretinopathy Scoliosis Rheumatoid arthritis Retinal detachment Seizures Nyctalopia Respiratory tract infection Cleft palate Short stature Global developmental delay Hernia Sensorineural hearing impairment Juvenile rheumatoid arthritis Gout Apnea Autoimmunity Talipes equinovarus Short neck Hyperlordosis Glaucoma Skeletal dysplasia Respiratory distress Polydactyly Severe short stature Midface retrusion Malar flattening Kyphosis Congestive heart failure Hypertelorism Gait disturbance Hyperopic astigmatism Broad ribs Abnormality of the optic nerve Constrictive median neuropathy Carpal bone hypoplasia Mucopolysacchariduria Shallow acetabular fossae Retinal vascular tortuosity J-shaped sella turcica Vascular tortuosity Irregular carpal bones Muscular hypotonia Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Subperiosteal bone resorption Deficiency of N-acetylglucosamine-1-phosphotransferase Soft tissue swelling of interphalangeal joints Generalized hypotonia Growth delay Broad forehead Nystagmus Muscle weakness Pectus carinatum Flat face Hip dislocation Ovoid vertebral bodies Bowing of the legs Vestibular dysfunction Short thorax Restrictive ventilatory defect Progressive sensorineural hearing impairment Disproportionate short stature Hypoplasia of the odontoid process Barrel-shaped chest Myelopathy Back pain Limited elbow movement Flattened epiphysis Cervical myelopathy Limited hip movement Retinoschisis Delayed pubic bone ossification Sciatica Neonatal short-trunk short stature Limitation of knee mobility Spondyloepiphyseal dysplasia Genu varum Platyspondyly Limb undergrowth Narrow chest Genu valgum Micromelia Paresthesia Scleroderma Pulmonary hypoplasia Limitation of joint mobility Waddling gait High myopia Growth abnormality Lumbar hyperlordosis Osteoarthritis Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Rhizomelia Coxa vara Sleep apnea Dysostosis multiplex Nevus Visual field defect Abnormality of skin pigmentation Snowflake vitreoretinal degeneration Ataxia Anemia Fever Edema Depressivity Pallor Optic disc pallor Optically empty vitreous Retinal atrophy Anisocytosis Macular edema Poikilocytosis Retinal pigment epithelial atrophy Elliptocytosis Decreased mean corpuscular volume Epiretinal membrane Erosive vitreoretinopathy Tractional retinal detachment Ring scotoma Emphysema Blindness Visual loss Reduced visual acuity Scarring Stroke Hypopigmentation of the skin Progressive visual loss Abnormality of the cardiovascular system Drusen Pierre-Robin sequence Choroidal neovascularization Geographic atrophy Macular drusen Polypoidal choroidal vasculopathy Foveal hypopigmentation Macular hemorrhage Cleft lip Chorioretinal atrophy Decreased serum iron Photoreceptor layer loss on macular OCT Short long bone Visual impairment Coarse facial features Umbilical hernia Joint stiffness Craniosynostosis Retinopathy Corneal opacity Astigmatism Wide nose Hip dysplasia Osteopenia Specific learning disability Cardiomegaly Split hand Thickened skin Bone pain Short ribs Opacification of the corneal stroma Aortic regurgitation Arthralgia Mandibular prognathia Tremor Arachnoid cyst Cardiomyopathy Renal insufficiency Abnormality of the kidney Dilated cardiomyopathy Stage 5 chronic kidney disease Renal cyst Pancreatitis Nephronophthisis Tubular atrophy Osteoporosis Kinetic tremor Pancreatic cysts Chronic pancreatitis Renal corticomedullary cysts Tubular basement membrane disintegration Flexion contracture Abnormality of the skeletal system Prominent forehead Delayed calcaneal ossification



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