Autoimmunity, and Corneal opacity

Diseases related with Autoimmunity and Corneal opacity

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


Top matches:

Low match BLAU SYNDROME; BLAUS


Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

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Other less relevant matches:

Low match AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

Low match PSEUDOHYPOPARATHYROIDISM TYPE 1A


Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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 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

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

Symptoms // Phenotype % cases
Cataract Uncommon - Between 30% and 50% cases
Hypothyroidism Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arthritis Intellectual disability Cognitive impairment Anemia Abnormal facial shape Seizures Hearing impairment Immunodeficiency Hypocalcemia Hypertelorism Kyphosis Osteopenia Recurrent infections Bulbous nose Hypertension Flexion contracture Strabismus Depressed nasal bridge Fever

Rare Symptoms - Less than 30% cases


Astigmatism Nystagmus Sensorineural hearing impairment Thrombocytopenia Amblyopia Abnormality of the kidney Tetany Cerebellar atrophy Antinuclear antibody positivity Gliosis Abnormality of the thyroid gland Hypermelanotic macule Gingival overgrowth Obesity Hypertrichosis Delayed eruption of teeth Abnormality of the dentition Myopia Thickened calvaria Otitis media Hypoparathyroidism Vitiligo Cholelithiasis Opacification of the corneal stroma Reduced bone mineral density Hypergonadotropic hypogonadism Hypoplasia of dental enamel Cerebral calcification Decreased antibody level in blood Anxiety Keratoconjunctivitis Malabsorption Growth delay Confusion Motor delay Diarrhea Vomiting Decreased circulating parathyroid hormone level Irritability Muscle cramps Depressivity Brachydactyly Diabetes mellitus Inguinal hernia Micrognathia Gait disturbance Behavioral abnormality Hydrocephalus Band keratopathy Frontal bossing Subcutaneous nodule Abnormality of the ear Delayed speech and language development Global developmental delay Rheumatoid arthritis Visual impairment Juvenile rheumatoid arthritis Skin rash Umbilical hernia Coarse facial features Kyphoscoliosis Synovitis Neoplasm Alcoholism Lateral displacement of the femoral head Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Myelomeningocele Femoral hernia Microcephaly Seborrheic dermatitis Perimembranous ventricular septal defect Cleft palate Anterior segment developmental abnormality Retinal vascular tortuosity Graves disease Hypoplasia of the thymus Aplasia of the uterus Interrupted aortic arch Telecanthus Abnormality of the middle ear Parathyroid agenesis Mucopolysacchariduria Multiple lentigines Steroid-resistant nephrotic syndrome Shallow acetabular fossae Increased thyroid-stimulating hormone level Encephalomalacia Abnormal T cell morphology Abnormal immunoglobulin level Moyamoya phenomenon Ataxia Generalized hypotonia Type I truncus arteriosus Parathyroid hypoplasia Abnormality of the thymus Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Arteria lusoria Premature arteriosclerosis Anterior pituitary dysgenesis Aplasia of the thymus Conotruncal defect Vascular tortuosity Truncus arteriosus Nephrosclerosis Ptosis Posterior embryotoxon Sclerocornea Narrow mouth Short palpebral fissure Muscle weakness Coarctation of aorta Tetralogy of Fallot Amenorrhea Specific learning disability Posteriorly rotated ears Renal agenesis Chorea Bifid uvula High, narrow palate Retrognathia Renal dysplasia Hemolytic anemia Iris coloboma Polymicrogyria Generalized tonic-clonic seizures Microtia Short philtrum Attention deficit hyperactivity disorder Blepharophimosis Craniosynostosis Abnormality of the pinna Cleft lip Primary amenorrhea Broad thumb Low-set ears Ventricular septal defect Meningocele Bipolar affective disorder High palate Hydronephrosis Autoimmune thrombocytopenia Autoimmune hemolytic anemia Inflammation of the large intestine Acne Unilateral renal agenesis Psoriasiform dermatitis Nasal speech Hypoplasia of the corpus callosum Exotropia Atrial septal defect Hypertonia Microphthalmia Arnold-Chiari malformation Schizophrenia Abnormality of cardiovascular system morphology Bicuspid aortic valve Patent ductus arteriosus Purpura Abnormal heart morphology Spina bifida Low posterior hairline Hernia Muscular hypotonia Delusions Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Patellar dislocation Long ear Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Chronic otitis media Abnormality of the gingiva Retinal thinning Increased intracranial pressure Spinocerebellar tract disease in lower limbs Lacrimal gland hypoplasia Absent lacrimal punctum Decreased lacrimation Dacryocystitis Lacrimal duct atresia Alacrima Chronic obstructive pulmonary disease Periodontitis Xerostomia Premature loss of teeth Keratoconjunctivitis sicca Epiphora Carious teeth Flattened moderately deformed vertebrae Cerebral dysmyelination Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Prominent supraorbital ridges Widely spaced teeth Pain Malar flattening Hepatosplenomegaly Skeletal dysplasia Macrotia Mandibular prognathia Gait ataxia Prominent forehead Recurrent respiratory infections Babinski sign Delayed skeletal maturation Areflexia Arteriosclerosis Midface retrusion Cerebral atrophy Splenomegaly Respiratory tract infection Intellectual disability, mild Myopathy Intellectual disability, severe Ventriculomegaly Talipes equinovarus Abnormality of the skeletal system Optic atrophy Macrocephaly Skeletal muscle atrophy Dysarthria Hyperreflexia Hepatomegaly Epicanthus Spasticity Mental deterioration Pectus carinatum Recurrent bacterial infections Peripheral demyelination Narrow palate Low anterior hairline Spastic gait Hallucinations Limb ataxia Tall stature Bowing of the long bones Progressive neurologic deterioration Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Hip dysplasia Broad forehead Dental malocclusion Delayed myelination Progressive cerebellar ataxia Macroglossia Neurodegeneration Highly arched eyebrow Thick eyebrow Retinal degeneration Dysmetria Genu valgum Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Neurological speech impairment Hypoplasia of the capital femoral epiphysis Fine hair Right ventricular cardiomyopathy Peripheral opacification of the cornea Abnormality of the liver Pallor Rigidity Photophobia Reduced visual acuity Hypogonadism Rod-cone dystrophy Alopecia Constipation Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Ankylosis of feet small joints Hypotrichosis Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Retinopathy Nausea and vomiting Camptodactyly of toe Thyroiditis Central diabetes insipidus Alopecia universalis Decreased circulating aldosterone level Alopecia totalis Achalasia Abnormality of the cerebral vasculature Chronic mucocutaneous candidiasis Asplenia Adrenal hyperplasia Chronic sinusitis Increased circulating cortisol level Primary adrenal insufficiency Metaphyseal dysplasia Nausea Macular atrophy Adrenal insufficiency Diabetes insipidus Constriction of peripheral visual field Hypopigmented skin patches Abnormality of the fingernails Type I diabetes mellitus Sinusitis Chronic diarrhea Hepatitis Dehydration Pigmentary retinopathy Hypotension Broad metatarsal Generalized hypertrichosis Alopecia areata Abnormal joint morphology Iridocyclitis Posterior uveitis Anterior uveitis Granulomatosis Flexion contracture of toe Abducens palsy Cystoid macular edema Macular edema Abnormal cranial nerve morphology Joint swelling Uveitis Optic neuropathy Increased antibody level in blood Large vessel vasculitis Hypercalcemia Vasculitis Skin ulcer Inflammatory abnormality of the skin Eczema Papule Camptodactyly of finger Camptodactyly Glaucoma Blindness Edema Peripheral neuropathy Iritis Panuveitis Wrist flexion contracture Thickened skin Delayed closure of the anterior fontanelle Generalized osteoporosis Vertebral compression fractures Ankylosis Ankle contracture Hip contracture Arthropathy Narrow nasal bridge Abnormality of the thorax Metaphyseal widening Osteolysis Knee flexion contracture Decreased body weight Tendonitis Split hand Interphalangeal joint contracture of finger Hypoplasia of the maxilla Small hand Hirsutism Pes planus Arthralgia Proptosis Brachycephaly Osteoporosis Pes cavus Nongranulomatous uveitis Intermittent generalized erythematous papular rash Gastritis Chronic hepatitis Cellular immunodeficiency Decreased testicular size Atherosclerosis Bone marrow hypocellularity Lymphopenia Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Failure to thrive Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Microdontia Waddling gait Azoospermia Lymphoma Premature birth Migraine Brain atrophy Abnormal cerebellum morphology Neutropenia Nephropathy Abnormality of skin pigmentation Stage 5 chronic kidney disease Platyspondyly Hip dislocation Stroke Hyperlipidemia Coarse hair Hyperlordosis Protuberant abdomen Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Glomerulopathy Chronic kidney disease Multiple cafe-au-lait spots Steatorrhea Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Scarring Developmental regression Female hypogonadism Choreoathetosis Calcinosis Short 4th metacarpal Hyperphosphatemia Spinal cord compression Oligomenorrhea Basal ganglia calcification Polyphagia Prolonged QT interval Short metatarsal Conjunctivitis Increased bone mineral density Involuntary movements Growth hormone deficiency Autoimmune antibody positivity Short metacarpal Round face Full cheeks Chest pain Paresthesia Dyspnea Hyporeflexia Corneal dystrophy Patchy atrophy of the retinal pigment epithelium Salt craving Chronic active hepatitis Chronic atrophic gastritis Abnormality of calcium-phosphate metabolism Elevated circulating parathyroid hormone level Constrictive median neuropathy Proteinuria Broad distal phalanx of the thumb Thin upper lip vermilion Dementia Pneumonia Headache Renal insufficiency Congestive heart failure Cardiomyopathy Intrauterine growth retardation Broad 1st metacarpal Pituitary resistance to thyroid hormone Hyperostosis frontalis interna Osteoma cutis Choroid plexus calcification Short 5th metacarpal Low urinary cyclic AMP response to PTH administration Short 3rd metacarpal Short fifth metatarsal Abdominal symptom Ectopic ossification Elevated calcitonin Abnormal platelet function Hypocalcemic tetany Myoclonic spasms Prolactin deficiency Hypocalcemic seizures Pseudohypoparathyroidism Laryngeal dystonia Lacrimal gland aplasia



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