Autoimmunity, and High myopia

Diseases related with Autoimmunity and High myopia

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


Top matches:

Medium 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 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

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Other less relevant 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 HYPERTRYPTOPHANEMIA


Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

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 CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME


ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Low match MYOPIA 21, AUTOSOMAL DOMINANT; MYP21


Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).For a discussion of genetic heterogeneity of susceptibility to myopia, see {160700}.

Related symptoms:

  • Myopia
  • High myopia


SOURCES: OMIM MENDELIAN

More info about MYOPIA 21, AUTOSOMAL DOMINANT; MYP21

Low match MYOPIA 24, AUTOSOMAL DOMINANT; MYP24


Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004).For a discussion of genetic heterogeneity of myopia, see {160700}.

Related symptoms:

  • Myopia
  • High myopia


SOURCES: OMIM MENDELIAN

More info about MYOPIA 24, AUTOSOMAL DOMINANT; MYP24

Top 5 symptoms//phenotypes associated to Autoimmunity and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Scoliosis 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 High myopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Seizures Global developmental delay Hydrocele testis Intellectual disability, mild Hypothyroidism Generalized hypotonia Growth delay Hypertelorism Hamartomatous polyposis Immunodeficiency Motor delay Cognitive impairment Fibroadenoma of the breast Transitional cell carcinoma of the bladder Progressive macrocephaly Varicocele Thyroid adenoma Angioid streaks of the fundus Colonic diverticula Subcutaneous lipoma Furrowed tongue Ovarian cyst Hypoplasia of the maxilla Meningioma Skin tags Hashimoto thyroiditis Recurrent infections Micrognathia Hyperthyroidism Goiter Palmoplantar hyperkeratosis Breast carcinoma Gynecomastia Pectus excavatum Intention tremor Narrow mouth Thyroiditis High palate Short stature Short neck Sensorineural hearing impairment Muscle weakness Hernia Pain

Rare Symptoms - Less than 30% cases


Ataxia Delayed speech and language development Skeletal muscle atrophy Macrocephaly Frontal bossing Osteopenia Hydrocephalus Intellectual disability, moderate Inguinal hernia Abnormality of the cardiovascular system Increased intracranial pressure Macroglossia Delayed myelination Myopathy Depressivity Abnormality of the kidney Depressed nasal bridge Headache Abnormal cerebellum morphology Gliosis Abnormality of the dentition Diarrhea Cerebellar atrophy Fever Brain atrophy Lymphoma Behavioral abnormality Intellectual disability, profound Lymphopenia Melanocytic nevus Multiple cafe-au-lait spots Abnormality of the vasculature Cellular immunodeficiency Strabismus Flexion contracture Decreased antibody level in blood Corneal opacity Pectus carinatum Gait disturbance Hyperlordosis Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Hypertension Arthritis Abnormal lung morphology Skeletal dysplasia Lumbar hyperlordosis Spondyloepiphyseal dysplasia Talipes equinovarus Waddling gait Platyspondyly Congestive heart failure Malar flattening Midface retrusion Genu valgum Respiratory tract infection Retinal degeneration Bowing of the legs Muscular hypotonia Ovoid vertebral bodies Broad forehead Hip dislocation Nystagmus Flattened moderately deformed vertebrae Abnormal cornea morphology Synovitis Cranial hyperostosis Asthma Spastic tetraplegia Abnormality of the rib cage Thoracolumbar kyphosis Craniofacial hyperostosis Spondylolisthesis Vacuolated lymphocytes Synovial hypertrophy Abnormal echocardiogram Abnormality of the gingiva Progressive joint destruction Increased hepatic glycogen content Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Increased vertebral height Abnormality of the helix Abnormality of dental structure Generalized abnormality of skin Decreased pulmonary function Hypoplastic inferior ilia Long ear Abnormality of the ilium Abnormality of joint mobility Antineutrophil antibody positivity Generalized myoclonic seizures Aseptic necrosis Reduced ejection fraction Bowing of the long bones Narrow palate Low anterior hairline Spastic gait Hallucinations Limb ataxia Gingival overgrowth Amblyopia Tall stature Progressive neurologic deterioration Widely spaced teeth Hypertrichosis Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Hip dysplasia Recurrent bacterial infections Abnormality of visual evoked potentials Dysostosis multiplex Thickened calvaria Impaired smooth pursuit Delusions Patellar dislocation Aspiration Severe sensorineural hearing impairment Neoplasm Limb dystonia Bronchitis Abnormality of the sternum Prominent supraorbital ridges Scaling skin Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Flat occiput Heart murmur Chronic otitis media Spinocerebellar tract disease in lower limbs Enlarged polycystic ovaries Failure to thrive Hypertonia Multiple trichilemmomata Long penis Lobular carcinoma in situ Bone cyst Intestinal polyposis Astrocytoma Microcephaly Abnormality of the uterus Hyperkeratosis Merkel cell skin cancer Arteriovenous malformation Megalencephaly Prolactin excess Photophobia Papilledema Lipoma Pallor Scaphocephaly Renal cell carcinoma Cavernous hemangioma Ductal carcinoma in situ Erythema Follicular thyroid carcinoma Fibroma Generalized hyperkeratosis Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Adenoma sebaceum Abnormality of the penis Ovarian carcinoma Intestinal polyp Endometrial carcinoma Conjunctival hamartoma Colorectal polyposis Pseudopapilledema Mucosal telangiectasiae Acrokeratosis Neoplasm of the thyroid gland Cutis marmorata telangiectatica congenita Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Hodgkin lymphoma Ovarian neoplasm Low-set ears Papule Telangiectasia Subcutaneous nodule Broad thumb Overgrowth Palmoplantar keratoderma Polymicrogyria Joint hypermobility Nausea and vomiting Leukemia Exotropia Carcinoma Proximal muscle weakness Autism Papilloma Dilatation Atrial septal defect Tremor Downslanted palpebral fissures Brachydactyly Chronic diarrhea Cafe-au-lait spot Hamartoma Cutis marmorata Acute myeloid leukemia Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Dry skin Ichthyosis Macule Hand polydactyly Neoplasm of the skin Intracranial hemorrhage Dysdiadochokinesis Tetraplegia Incoordination Melanoma Hypopigmented skin patches Hemangioma Drooling Cranial nerve paralysis Otitis media Adducted thumb Dental malocclusion Developmental regression Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Astigmatism Malabsorption Stroke Scarring Proteinuria Neutropenia Thin upper lip vermilion Dementia Pneumonia Thrombocytopenia Renal insufficiency Vomiting Cardiomyopathy Intrauterine growth retardation Nephropathy Migraine Abnormal facial shape Azoospermia Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Chronic kidney disease Coarse hair Reduced bone mineral density Hyperlipidemia Premature birth Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Heterotopia Fine hair Nephrotic syndrome Microdontia Decreased testicular size Anemia Delayed calcaneal ossification Focal segmental glomerulosclerosis Flat face Rhizomelia Abnormality of the metaphysis Osteoarthritis Limb undergrowth Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Paresthesia Sleep apnea Micromelia Narrow chest Apnea Glaucoma Polydactyly Severe short stature Respiratory distress Cleft palate Coxa vara Growth abnormality Limitation of knee mobility Myelopathy Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Barrel-shaped chest Genu varum Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Back pain Nephritis Emphysema Progressive cerebellar ataxia Dysarthria Areflexia Cerebral atrophy Splenomegaly Intellectual disability, severe Ventriculomegaly Abnormality of the skeletal system Optic atrophy Hyperreflexia Babinski sign Hepatomegaly Epicanthus Spasticity Head-banging Tryptophanuria Hypersexuality Stuttering Mood swings Delayed skeletal maturation Recurrent respiratory infections Overweight Neurological speech impairment Neurodegeneration Highly arched eyebrow Thick eyebrow Confusion Dysmetria Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Mental deterioration Prominent forehead Anxiety Hepatosplenomegaly Umbilical hernia Coarse facial features Kyphoscoliosis Macrotia Mandibular prognathia Gait ataxia Generalized joint laxity Limited elbow extension High pitched voice Lymphoproliferative disorder Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy B-cell lymphoma Mucopolysacchariduria Disproportionate short-trunk short stature Thoracic kyphosis Transient ischemic attack Protuberant abdomen Glomerulopathy Steatorrhea Hypermelanotic macule Combined immunodeficiency Hypoplasia of the capital femoral epiphysis Multiple lentigines Emotional lability Lateral displacement of the femoral head Interphalangeal joint contracture of finger Skin rash Camptodactyly of finger Joint laxity Aggressive behavior Pes planus Arthralgia Visual impairment Nephrosclerosis Steroid-resistant nephrotic syndrome Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Drusen



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Muscular hypotonia of the trunk, related diseases and genetic alterations

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