Autoimmunity, and Astigmatism

Diseases related with Autoimmunity and Astigmatism

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


Top matches:

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 KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

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Other less relevant matches:

Low match COWDEN SYNDROME 5; CWS5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Low match COWDEN SYNDROME 6; CWS6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

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 DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93


Autosomal recessive deafness-93 is characterized by moderate to severe prelingual deafness and a distinctive U-shaped audiogram (Tabatabaiefar et al., 2011).

Related symptoms:

  • Hearing impairment
  • Myopia
  • Astigmatism
  • Severe hearing impairment


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93

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 COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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 Astigmatism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Hypothyroidism High palate Intellectual disability, mild Cataract Recurrent infections Immunodeficiency Micrognathia Short stature Short neck Narrow mouth Hydrocele testis Hashimoto thyroiditis Cognitive impairment Thyroiditis Abnormality of the kidney Generalized hypotonia Growth delay Global developmental delay Hypertelorism Gynecomastia Intention tremor Hypoplasia of the maxilla Cleft palate Pectus excavatum Anemia Atrial septal defect Arthritis Delayed speech and language development Strabismus Respiratory tract infection Hernia Breast carcinoma Muscular hypotonia Hydrocephalus Polymicrogyria Abnormal facial shape Decreased antibody level in blood Palmoplantar hyperkeratosis Varicocele Fibroadenoma of the breast Transitional cell carcinoma of the bladder Thyroid adenoma Motor delay Goiter Colonic diverticula Subcutaneous lipoma Angioid streaks of the fundus Ovarian cyst Hamartomatous polyposis Abnormality of the dentition Furrowed tongue Hyperthyroidism Skin tags Pain Meningioma Diarrhea Muscle weakness Progressive macrocephaly

Rare Symptoms - Less than 30% cases


Amblyopia Broad thumb Exotropia Renal dysplasia Purpura Coarctation of aorta Hemolytic anemia Abnormality of the pinna Malar flattening Patent ductus arteriosus Hydronephrosis Umbilical hernia Posteriorly rotated ears Inguinal hernia Abnormal heart morphology Autoimmune thrombocytopenia Obesity Behavioral abnormality Pectus carinatum Nystagmus Ventricular septal defect Talipes equinovarus Low-set ears Sensorineural hearing impairment Ptosis Skeletal dysplasia Brachydactyly Vitiligo Otitis media Abnormality of the cardiovascular system Midface retrusion Broad forehead Genu valgum Retinal degeneration Bowing of the legs Patellar dislocation Scaphocephaly Severe hearing impairment Skeletal muscle atrophy Macrocephaly Frontal bossing Myopathy Cafe-au-lait spot Gait disturbance Abnormality of the middle ear Dental malocclusion Highly arched eyebrow Joint hypermobility Macroglossia Intellectual disability, moderate Anxiety Macrotia Severe short stature Depressivity Dilatation Abnormality of the skeletal system Epicanthus Failure to thrive Increased intracranial pressure Ataxia Autoimmune hemolytic anemia Neoplasm Waddling gait Platyspondyly Malabsorption Cellular immunodeficiency Bulbous nose Melanocytic nevus Abnormal cerebellum morphology Gliosis Spondyloepiphyseal dysplasia Multiple cafe-au-lait spots Corneal opacity Lymphopenia Abnormality of the vasculature Abnormality of epiphysis morphology Heterotopia Ovoid vertebral bodies Abnormal form of the vertebral bodies Abnormal lung morphology Microdontia Hip dislocation Lymphoma Lumbar hyperlordosis Headache Microcephaly Congestive heart failure Thrombocytopenia Pneumonia Renal insufficiency Osteopenia Fever Hypertension Depressed nasal bridge Hyperlordosis Cerebellar atrophy Intellectual disability, severe Dysplastic gangliocytoma of the cerebellum Ventriculomegaly Splenomegaly Optic atrophy Pseudopapilledema Hyperreflexia Progressive cerebellar ataxia Dysarthria Areflexia Hepatomegaly Spasticity Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Cerebral atrophy Dysmetria Delayed skeletal maturation Neurological speech impairment Confusion Thick eyebrow Abnormality of the foot Hypermetropia Mucosal telangiectasiae Abnormality of the cerebral white matter Neurodegeneration Neoplasm of the thyroid gland Cutis marmorata telangiectatica congenita Conjunctival hamartoma Babinski sign Enlarged cerebellum Mental deterioration Hepatosplenomegaly Coarse facial features Kyphoscoliosis Mandibular prognathia Trichilemmoma Gait ataxia Acrokeratosis Recurrent respiratory infections Prominent forehead Barrel-shaped chest Sciatica Epiphora Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Flat face Paresthesia Micromelia Narrow chest Lobular carcinoma in situ Irritability Carious teeth Keratoconjunctivitis sicca High myopia Premature loss of teeth Xerostomia Periodontitis Chronic obstructive pulmonary disease Keratoconjunctivitis Alacrima Lacrimal duct atresia Dacryocystitis Decreased lacrimation Absent lacrimal punctum Lacrimal gland hypoplasia Limb undergrowth Osteoarthritis Ductal carcinoma in situ Hypoplasia of the odontoid process Delayed pubic bone ossification Merkel cell skin cancer Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Hip dysplasia Vitreoretinopathy Disproportionate short stature Abnormality of the metaphysis Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Multiple trichilemmomata Back pain Genu varum Growth abnormality Sleep apnea Coxa vara Rhizomelia Delayed myelination Type II diabetes mellitus Colorectal polyposis Antineutrophil antibody positivity Carcinoma Prolactin excess Proximal muscle weakness Autism Tremor Downslanted palpebral fissures Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Megalencephaly Progressive joint destruction Abnormality of dental structure Arteriovenous malformation Leukemia Abnormality of the uterus Astrocytoma Intestinal polyposis Abnormality of joint mobility Abnormality of the ilium Bone cyst Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Papilledema Papule Cerebral dysmyelination Multiple lipomas Incoordination Melanoma Dysdiadochokinesis Intracranial hemorrhage Hand polydactyly Hypopigmented skin patches Cutis marmorata Macule Hemangioma Abnormality of the thyroid gland Drooling Cranial nerve paralysis Cystic hygroma Nausea and vomiting Cellulitis Acute myeloid leukemia Hamartoma Ovarian neoplasm Neoplasm of the skin Hodgkin lymphoma Renal cell carcinoma Lipoma Chronic diarrhea Telangiectasia Subcutaneous nodule Overgrowth Palmoplantar keratoderma Synostosis of joints Retinal thinning Peripheral demyelination Decreased proportion of CD4-positive T cells Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Spastic gait Papilloma Fibroma Hallucinations Limb ataxia Generalized hyperkeratosis Neoplasm of the central nervous system Gingival overgrowth Adenoma sebaceum Prominent supraorbital ridges Abnormality of the penis Tall stature Bowing of the long bones Progressive neurologic deterioration Ovarian carcinoma Hypertrichosis Intestinal polyp Depressed nasal ridge Psychosis Pancytopenia Follicular thyroid carcinoma Endometrial carcinoma Optic disc pallor Enlarged polycystic ovaries Chronic otitis media Long penis Reduced ejection fraction Long ear Abnormality of the gingiva Cavernous hemangioma Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Dysostosis multiplex Heart murmur Impaired smooth pursuit Delusions Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Flat occiput Apnea Anal stenosis Glaucoma Retrognathia Bifid uvula High, narrow palate Iris coloboma Generalized tonic-clonic seizures Microtia Short philtrum Attention deficit hyperactivity disorder Blepharophimosis Craniosynostosis Cleft lip Telecanthus Abnormality of cardiovascular system morphology Renal agenesis Microphthalmia Hypertonia Hypoplasia of the corpus callosum Flexion contracture Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Chorea Specific learning disability Shallow acetabular fossae Unilateral renal agenesis Juvenile rheumatoid arthritis Tetany Myelomeningocele Truncus arteriosus Sclerocornea Meningocele Hypoparathyroidism Bipolar affective disorder Posterior embryotoxon Inflammation of the large intestine Acne Psoriasiform dermatitis Amenorrhea Rheumatoid arthritis Cholelithiasis Nasal speech Arnold-Chiari malformation Schizophrenia Bicuspid aortic valve Hypocalcemia Spina bifida Primary amenorrhea Short palpebral fissure Low posterior hairline Tetralogy of Fallot Increased thyroid-stimulating hormone level Steroid-resistant nephrotic syndrome Anterior segment developmental abnormality Brain atrophy Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Fine hair Intellectual disability, profound Nephrotic syndrome Decreased testicular size Premature birth Migraine Neutropenia Coarse hair Nephropathy Abnormality of skin pigmentation Stage 5 chronic kidney disease Stroke Scarring Developmental regression Proteinuria Thin upper lip vermilion Dementia Vomiting Cardiomyopathy Intrauterine growth retardation Reduced bone mineral density Chronic kidney disease Multiple lentigines Thoracic kyphosis Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Transient ischemic attack Encephalitis Protuberant abdomen Glomerulopathy Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Seborrheic dermatitis Hypoplasia of the thymus Polydactyly Long palpebral fissure Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Short columella Overweight IgA deficiency Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Celiac disease Small face Right bundle branch block Bundle branch block Hydroureter Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Cholangitis Broad philtrum Horseshoe kidney Single ventricle Respiratory distress Congenital mitral stenosis Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Crossed fused renal ectopia Trichorrhexis nodosa Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Hyperbilirubinemia Congenital hip dislocation Aplasia of the uterus Aplasia of the thymus Feeding difficulties Cryptorchidism Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Arteria lusoria Conotruncal defect Hypospadias Vascular tortuosity Abnormality of the thymus Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Alcoholism Femoral hernia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Wide nasal bridge Clinodactyly Increased body weight Hirsutism Sparse and thin eyebrow Abnormal vertebral morphology Long eyelashes Recurrent otitis media Small nail Blue sclerae Congenital diaphragmatic hernia Growth hormone deficiency Prominent nose Intestinal malrotation Hypodontia Single transverse palmar crease Wide nose Visual loss Anal atresia Abnormal cardiac septum morphology Coloboma Paralysis Protruding ear Postnatal growth retardation Feeding difficulties in infancy Joint laxity Hypoglycemia Jaundice Pes planus Micropenis Lacrimal gland aplasia



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