Autoimmunity, and Glaucoma

Diseases related with Autoimmunity and Glaucoma

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


Top matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

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 AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

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Other less relevant matches:

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 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

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match NANOPHTHALMIA


Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.

Related symptoms:

  • Strabismus
  • Microphthalmia
  • Glaucoma
  • Abnormality of retinal pigmentation
  • High hypermetropia


SOURCES: ORPHANET MENDELIAN

More info about NANOPHTHALMIA

Low match POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY


Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.

POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY Is also known as schlichting dystrophy|corneal endothelial dystrophy 1, autosomal dominant, formerly|ppcd|ched1, formerly|posterior polymorphous dystrophy|maumenee corneal dystrophy|posterior polymorphous corneal dystrophy|corneal dystrophy, hereditary polymorphous poster

Related symptoms:

  • Edema
  • Glaucoma
  • Photophobia
  • Corneal opacity
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY

Low match COATS DISEASE


Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.

COATS DISEASE Is also known as retinal telangiectasis|congenital retinal telangiectasia|leber miliary aneurysm

Related symptoms:

  • Strabismus
  • Cataract
  • Edema
  • Visual loss
  • Glaucoma


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COATS DISEASE

Low match AUTOSOMAL DOMINANT NEOVASCULAR INFLAMMATORY VITREORETINOPATHY


Autosomal dominant neovascular inflammatory vitreoretinopathy is a rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness.

AUTOSOMAL DOMINANT NEOVASCULAR INFLAMMATORY VITREORETINOPATHY Is also known as adniv|pvr|vitreoretinopathy, neovascular inflammatory, autosomal dominant|proliferative vitreoretinopathy

Related symptoms:

  • Cataract
  • Edema
  • Blindness
  • Visual loss
  • Rod-cone dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT NEOVASCULAR INFLAMMATORY VITREORETINOPATHY

Top 5 symptoms//phenotypes associated to Autoimmunity and Glaucoma

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
Uveitis Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
Arthritis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Edema Retinal detachment Splenomegaly Retinopathy Seizures Hearing impairment Visual loss Fever Macular edema

Rare Symptoms - Less than 30% cases


Anterior uveitis Posterior uveitis Generalized hypotonia Iridocyclitis Iritis Cystoid macular edema Panuveitis Behavioral abnormality Abnormal facial shape Global developmental delay Band keratopathy Growth delay Microcephaly Intellectual disability Talipes equinovarus Gait disturbance Pain Cleft palate Muscular hypotonia Malar flattening Hypertelorism Scoliosis Short stature Paresthesia Nystagmus Retinal degeneration Encephalitis Microphthalmia Irritability Feeding difficulties in infancy Vitreoretinopathy Thrombocytopenia Dilatation Rheumatoid arthritis Abnormality of retinal pigmentation Short neck Eczema Photophobia Gastrointestinal hemorrhage Abnormal lung morphology Inflammatory abnormality of the skin Vasculitis Failure to thrive Epiphora Hypertension Myalgia Hypothyroidism Respiratory tract infection Acne Papule Intrauterine growth retardation Diarrhea Subcutaneous nodule Lymphadenopathy Skin rash Recurrent infections Immunodeficiency Anxiety Keratoconjunctivitis sicca Glomerulopathy Conductive hearing impairment Umbilical hernia Gastroesophageal reflux Polyhydramnios Depressivity Narrow mouth Autism Upslanted palpebral fissure Patent ductus arteriosus Hypospadias Inguinal hernia Constipation Endocarditis Telecanthus Asthma Pleural effusion Renal hypoplasia Tetralogy of Fallot Inflammation of the large intestine Specific learning disability Intestinal malrotation Vesicoureteral reflux Bulbous nose Blurred vision Long face Arachnodactyly Obesity Joint hyperflexibility Carious teeth Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Anal atresia Hydrocephalus Abnormality of cardiovascular system morphology Recurrent aphthous stomatitis Myositis Cerebral ischemia Choanal atresia Superficial thrombophlebitis Orchitis Abnormal myocardium morphology Retrobulbar optic neuritis Arterial thrombosis Increased inflammatory response Gangrene Optic neuritis Chorioretinitis Immunologic hypersensitivity Stomatitis Erythema nodosum Alopecia areata Thrombophlebitis Pleuritis Oral ulcer Raynaud phenomenon Pulmonary infiltrates Long philtrum Low-set ears Intellectual disability, mild Abnormality of the dentition Atrial septal defect Ventricular septal defect Downslanted palpebral fissures Optic atrophy Wide nasal bridge Epicanthus Pericarditis Pustule Hemoptysis Ptosis Pulmonary embolism Cryptorchidism Micrognathia Hypopyon Decreased level of D-mannose in urine Aseptic necrosis Epididymitis Genital ulcers Foot polydactyly Aganglionic megacolon Keratoconus Polymorphous posterior corneal dystrophy Abnormal Descemet membrane morphology Uveal ectropion Thinning of Descemet membrane Corneal stromal edema Iris atrophy Anterior synechiae of the anterior chamber Ectopia pupillae Increased intraocular pressure Keratitis Telangiectasia Ectropion Corneal dystrophy Overgrowth Falls Corneal opacity Abnormal choroid morphology High hypermetropia Occipital myelomeningocele Abnormality of the tonsils Progressive visual loss Abnormality of the vasculature Multiple suture craniosynostosis Pigmentary retinopathy Large hyperpigmented retinal spots Peripheral retinal neovascularization Iris neovascularization Leakage of dye on fundus fluorescein angiography Tractional retinal detachment Epiretinal membrane Vitreous hemorrhage Inflammatory abnormality of the eye Abnormal electroretinogram Abnormality of the eye Abnormality of the retinal vasculature Rod-cone dystrophy Rubeosis iridis Exudative retinopathy Exudative retinal detachment Retinal telangiectasia Phthisis bulbi Leukocoria Abnormal macular morphology Aplasia/Hypoplasia of the iris Abnormal anterior chamber morphology Tricuspid atresia Abnormal aortic arch morphology Spina bifida Overfolded helix Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Venous thrombosis Hyperthyroidism Bowel incontinence Dysphasia Chronic otitis media Abnormality of the thorax Patellar dislocation Hand polydactyly Cholelithiasis Polycystic kidney dysplasia Nasal speech Laryngomalacia Schizophrenia Hypopigmented skin patches Purpura Abnormality of dental enamel Hypocalcemia Hypoparathyroidism Multiple renal cysts Hypertensive crisis Abnormal thrombocyte morphology Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Arrhinencephaly Platybasia Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Seborrheic dermatitis Abnormality of the skull Hypoplasia of the thymus Tetany Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormal eyelid morphology Truncus arteriosus Meningocele Increased intracranial pressure Headache Cranial nerve paralysis Abnormality of the cerebral white matter Intellectual disability, profound Spastic tetraplegia Abnormality of extrapyramidal motor function Hepatitis Cerebral calcification Peripheral demyelination Brain atrophy Tetraplegia Severe global developmental delay Progressive microcephaly Muscular hypotonia of the trunk Elevated hepatic transaminase Hepatosplenomegaly Cerebral cortical atrophy Agenesis of corpus callosum Pneumonia Encephalopathy Cerebral atrophy Dystonia Postnatal microcephaly Leukodystrophy Abnormality of the skeletal system Progressive encephalopathy CSF lymphocytic pleiocytosis Multiple gastric polyps Autoamputation CSF pleocytosis Lymphocytosis Vegetative state Morphological abnormality of the pyramidal tract Diffuse cerebral atrophy Acrocyanosis Episodic fever Leukoencephalopathy Atrophy/Degeneration affecting the brainstem Basal ganglia calcification Prolonged neonatal jaundice Congenital glaucoma Petechiae Spastic diplegia Systemic lupus erythematosus Poor head control Cerebral palsy Cerebellar atrophy Hepatomegaly Chronic CSF lymphocytosis Recurrent skin infections Folliculitis Protein-losing enteropathy Osteosarcoma Severe intrauterine growth retardation Atopic dermatitis Autoimmune hemolytic anemia Erythroderma Myelodysplasia Abnormal intestine morphology Flexion contracture Lymphopenia Bronchiectasis Neutropenia Hemolytic anemia Ichthyosis Dry skin Postnatal growth retardation Respiratory failure Anemia Erythroid dysplasia Visual impairment Feeding difficulties Juvenile rheumatoid arthritis Spasticity Nongranulomatous uveitis Intermittent generalized erythematous papular rash Tendonitis Large vessel vasculitis Granulomatosis Flexion contracture of toe Abducens palsy Synovitis Abnormal cranial nerve morphology Peripheral neuropathy Joint swelling Optic neuropathy Abnormal joint morphology Abnormality of the ear Increased antibody level in blood Hypercalcemia Skin ulcer Camptodactyly of finger Camptodactyly Chilblains Deep white matter hypodensities Aortic regurgitation Delayed calcaneal ossification Weight loss Abdominal pain Alopecia Renal insufficiency Fatigue Hyperreflexia Neoplasm Ataxia Limitation of knee mobility Dyspnea Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Reduced visual acuity Arthralgia Barrel-shaped chest Chest pain Pancreatitis Meningitis Anorexia Mitral regurgitation Hemiparesis Myocardial infarction Abnormal blistering of the skin Memory impairment Migraine Vertigo Developmental regression Confusion Malabsorption Nausea and vomiting Cough Stroke Abnormal pyramidal sign Scarring Joint stiffness Erythema Ovoid vertebral bodies Hypoplasia of the odontoid process Increased CSF interferon alpha Skeletal dysplasia Genu valgum Narrow chest Platyspondyly Hip dislocation Broad forehead Pectus carinatum Hyperlordosis Apnea Polydactyly Flat face Severe short stature Hernia Midface retrusion Kyphosis Congestive heart failure Respiratory distress Myopia Muscle weakness Sensorineural hearing impairment Micromelia Pulmonary hypoplasia Disproportionate short stature Sleep apnea Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Bowing of the legs Spondyloepiphyseal dysplasia Back pain Genu varum Growth abnormality Coxa vara Limitation of joint mobility Rhizomelia Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Osteoarthritis Lumbar hyperlordosis High myopia Limb undergrowth Waddling gait Posterior retinal neovascularization



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