Arthritis, and Retinal degeneration

Diseases related with Arthritis and Retinal degeneration

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


Top matches:

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

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

Mendelian

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

Learn more

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 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

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

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 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

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

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Sensorineural hearing impairment Scoliosis Hernia Myopia Respiratory tract infection Generalized hypotonia Growth delay Nystagmus Muscular hypotonia Hypertension Visual impairment Hypertelorism Muscle weakness Mandibular prognathia Kyphosis Abnormality of the skeletal system Pain Malar flattening Short stature Genu valgum Macrotia Reduced visual acuity Retinopathy Retinal detachment Ataxia Nyctalopia Abnormality of skin pigmentation Rheumatoid arthritis Depressivity

Rare Symptoms - Less than 30% cases


Coarse facial features Respiratory distress Short neck Talipes equinovarus Gait disturbance Vitreoretinopathy Recurrent infections Neutropenia Aciduria Pigmentary retinopathy Umbilical hernia Pancytopenia Congestive heart failure Dysostosis multiplex Disproportionate tall stature Hip dysplasia Cleft palate Astigmatism Corneal opacity Psychosis Juvenile rheumatoid arthritis Neurological speech impairment High myopia Myelopathy Microcephaly Failure to thrive Abnormal facial shape Bowing of the legs Hydrocephalus Intellectual disability, severe Thrombocytopenia Gait ataxia Lumbar hyperlordosis Mental deterioration Anemia Feeding difficulties in infancy Paresthesia Kyphoscoliosis Hip dislocation Broad forehead Pectus carinatum Smooth philtrum Confusion Skeletal dysplasia Joint hypermobility Midface retrusion Osteopenia Abnormality of retinal pigmentation Tremor Motor delay Low anterior hairline Behavioral abnormality Otitis media Stroke Progressive visual loss Macular degeneration Gingival overgrowth Macular edema Gout Depressed nasal bridge Renal insufficiency Cardiomyopathy Prominent forehead Optic disc pallor Tall stature Visual loss Blindness Strabismus Optic atrophy Thick eyebrow Edema Highly arched eyebrow Macrocephaly Retinal thinning Type II diabetes mellitus Gliosis Progressive joint destruction Spinocerebellar tract disease in lower limbs Synovial hypertrophy Flattened moderately deformed vertebrae Cerebral dysmyelination Depressed nasal ridge Progressive cerebellar ataxia Micrognathia Long ear Delayed myelination Decreased antibody level in blood Peripheral demyelination Anxiety Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Neurodegeneration Generalized abnormality of skin Increased hepatic glycogen content Abnormality of the gingiva Dental malocclusion Abnormality of joint mobility Increased vertebral height Antineutrophil antibody positivity Spondylolysis Abnormality of dental structure Oligosacchariduria Synostosis of joints Open bite Hypertrichosis Thickened calvaria Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Widely spaced teeth Limb dystonia Bronchitis Increased intracranial pressure Hydrocele testis Abnormality of the sternum Prominent supraorbital ridges Chronic otitis media Heart murmur Ptosis Femoral bowing Neurodevelopmental delay Flat occiput Bowel incontinence Macroglossia Recurrent bacterial infections Progressive neurologic deterioration Abnormal echocardiogram Bowing of the long bones Abnormality of the cerebral white matter Amblyopia Hypermetropia Abnormality of the foot Dysmetria Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Synovitis Reduced ejection fraction Limb ataxia Abnormal cornea morphology Hallucinations Abnormality of the rib cage Spastic gait Craniofacial hyperostosis Narrow palate Spondylolisthesis Abnormality of the helix Cryptorchidism Delayed puberty High palate Narrow nasal bridge Facial hypotonia Vocal cord paralysis Microglossia Gingivitis Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Celiac disease Abnormality of the hip bone Deep venous thrombosis Truncal obesity Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Precocious puberty Short metatarsal Reduced number of teeth Misalignment of teeth Furrowed tongue Recurrent skin infections Cutis gyrata of scalp Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Chorioretinal dystrophy Bone spicule pigmentation of the retina Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Laryngomalacia Venous thrombosis Intrauterine growth retardation Pes planus Small for gestational age Prominent nasal bridge Short philtrum Wide mouth Paralysis Protruding ear Postnatal growth retardation Intellectual disability, moderate Joint laxity Neonatal hypotonia Thin upper lip vermilion Retrognathia Severe global developmental delay Gastroesophageal reflux Hypothyroidism Diabetes mellitus Rod-cone dystrophy Cerebellar hypoplasia Clinodactyly of the 5th finger Pectus excavatum Obesity Dilatation Microphthalmia Ventricular septal defect Downslanted palpebral fissures Finger syndactyly Synophrys Leukopenia Convex nasal ridge Sandal gap Intellectual disability, progressive Preauricular skin tag Progressive microcephaly Exotropia Long eyelashes Clumsiness Open mouth Decreased fetal movement Mitral valve prolapse Narrow forehead Growth hormone deficiency Joint hyperflexibility Prominent nose Short metacarpal Hypoplasia of the maxilla Microcornea Single transverse palmar crease Tapered finger Small hand High, narrow palate Thick vermilion border Retinal dystrophy Iris coloboma Arachnodactyly Hepatosplenomegaly Homocystinuria Recurrent respiratory infections Abnormality of the optic nerve Irregular carpal bones Hyperopic astigmatism Vascular tortuosity J-shaped sella turcica Retinal vascular tortuosity Shallow acetabular fossae Mucopolysacchariduria Carpal bone hypoplasia Constrictive median neuropathy Broad ribs Increased serum beta-hexosaminidase Scleroderma Visual field defect Short long bone Aortic regurgitation Opacification of the corneal stroma Short ribs Bone pain Thickened skin Split hand Cardiomegaly Increased serum iduronate sulfatase activity Subperiosteal bone resorption Nevus Pulmonary hypoplasia Rhizomelia Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormal lung morphology Osteoarthritis Limb undergrowth Waddling gait Limitation of joint mobility Flat face Deficiency of N-acetylglucosamine-1-phosphotransferase Micromelia Narrow chest Platyspondyly Autoimmunity Hyperlordosis Apnea Glaucoma Polydactyly Severe short stature Soft tissue swelling of interphalangeal joints Specific learning disability Wide nose Sleep apnea Poikilocytosis Hypopigmentation of the skin Scarring Photoreceptor layer loss on macular OCT Ring scotoma Decreased serum iron Epiretinal membrane Decreased mean corpuscular volume Elliptocytosis Retinal pigment epithelial atrophy Anisocytosis Emphysema Retinal atrophy Pallor Fever Snowflake vitreoretinal degeneration Erosive vitreoretinopathy Optically empty vitreous Tractional retinal detachment Pierre-Robin sequence Chorioretinal atrophy Cleft lip Abnormality of the cardiovascular system Drusen Craniosynostosis Arachnoid cyst Joint stiffness Arthralgia Osteoporosis Flexion contracture Tubular basement membrane disintegration Renal corticomedullary cysts Chronic pancreatitis Pancreatic cysts Kinetic tremor Tubular atrophy Nephronophthisis Choroidal neovascularization Pancreatitis Renal cyst Stage 5 chronic kidney disease Dilated cardiomyopathy Abnormality of the kidney Macular hemorrhage Foveal hypopigmentation Polypoidal choroidal vasculopathy Macular drusen Geographic atrophy Coxa vara Growth abnormality Babinski sign Chronic hemolytic anemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Methylmalonic acidemia Decreased methylmalonyl-CoA mutase activity Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Apathy Ectopia lentis Hypomethioninemia Diffuse hepatic steatosis Slurred speech Myopathy Delayed skeletal maturation Inguinal hernia Areflexia Cerebral atrophy Immunodeficiency Splenomegaly Intellectual disability, mild Abnormality of the dentition Cerebellar atrophy Ventriculomegaly Cystathioninemia Frontal bossing Skeletal muscle atrophy Dysarthria Hyperreflexia Hepatomegaly Epicanthus Delayed speech and language development Cognitive impairment Spasticity Thyroglossal cyst Hemiplegia Atherosclerosis Genu varum Flattened epiphysis Low-set ears Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Limited elbow movement Respiratory insufficiency Ovoid vertebral bodies Barrel-shaped chest Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Spondyloepiphyseal dysplasia Back pain Feeding difficulties Dementia Anorexia Hemolytic anemia Recurrent urinary tract infections Broad-based gait Pulmonary arterial hypertension Abnormality of extrapyramidal motor function Memory impairment Urinary incontinence Metabolic acidosis Hepatic steatosis Hematuria Nephropathy Long face Cerebral cortical atrophy Unsteady gait Lower limb muscle weakness Malabsorption Congenital cataract Lethargy Proteinuria Difficulty walking High forehead Acidosis Weight loss Slender toe



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more