Myopia, and Eosinophilia

Diseases related with Myopia and Eosinophilia

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

Top matches:

Medium match KERATOCONUS 1; KTCN1

Keratoconus, the most common corneal dystrophy, is a bilateral, noninflammatory progressive corneal ectasia. Clinically, the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. The disease usually arises in the teenage years, eventually stabilizing in the third and fourth decades. The incidence of keratoconus is 1 in 2,000 in the general population; it occurs with no ethnic or gender preponderance, and causes significant visual impairment in young adults. No specific treatment exists except to replace the corneal tissue by surgery (corneal transplantation) when visual acuity can no longer be corrected by contact lenses (summary by Dash et al., 2006).Ihalainen (1986) reviewed various conditions with which keratoconus is at times associated. Keratoconus is frequent in cases of amaurosis congenita of Leber (OMIM ). Genetic Heterogeneity of KeratoconusAlso see KTCN2 (OMIM ), mapped to 16q22.3-q23.1; KTCN3 (OMIM ), mapped to 3p14-q13; KTCN4 (OMIM ), mapped to 2p24; KTCN5 (OMIM ), mapped to 5q14.1-q21.3; KTCN6 (OMIM ), mapped to 9q34; KTCN7 (OMIM ), mapped to 13q32; KTCN8 (OMIM ), mapped to 14q24; and KTCN9 (OMIM ), caused by mutation in the TUBA3D gene (OMIM ) on 2q21.

Related symptoms:

  • Visual impairment
  • Myopia
  • Edema
  • Scarring
  • Astigmatism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about KERATOCONUS 1; KTCN1

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Other less relevant matches:

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

HERMANSKY-PUDLAK SYNDROME TYPE 8 Is also known as hps8

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Recurrent infections
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 8

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

Top 5 symptoms//phenotypes associated to Myopia and Eosinophilia

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hypermetropia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopia and Eosinophilia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Hypertelorism Generalized hypotonia Failure to thrive Nystagmus Thrombocytopenia Anemia Neutropenia Intellectual disability Visual impairment Abnormal facial shape Bruising susceptibility Congestive heart failure Feeding difficulties Epicanthus Edema Cataract Delayed skeletal maturation Microcephaly Postnatal growth retardation Astigmatism

Rare Symptoms - Less than 30% cases

Diarrhea Cognitive impairment Hypertrophic cardiomyopathy Dyspnea Osteopenia Esotropia Congenital cataract Pulmonary arterial hypertension Splenomegaly Menorrhagia Abdominal pain Short neck High myopia Reduced visual acuity Facial asymmetry Abnormal cardiac septum morphology Proptosis Constipation Downslanted palpebral fissures Abdominal distention Brachydactyly High palate Low-set ears Leukocytosis Increased bone mineral density Generalized myoclonic seizures Abnormal bleeding Headache Cryptorchidism Corneal dystrophy Thin upper lip vermilion Delayed speech and language development Long philtrum Hypsarrhythmia Motor delay Spasticity Muscular hypotonia Fatigue Recurrent infections Cardiomyopathy Delayed ability to walk Loose anagen hair Panuveitis Pectus excavatum of inferior sternum Neurofibrosarcoma Gonadal neoplasm Juvenile myelomonocytic leukemia Amegakaryocytic thrombocytopenia Reduced factor XII activity Superior pectus carinatum Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Reduced factor XIII activity Optic atrophy Nasogastric tube feeding Small hand Prominent glabella Achromatopsia Dyschromatopsia Cutis laxa Sandal gap Fine hair Narrow forehead Progressive visual loss Single transverse palmar crease Thick eyebrow Preductal coarctation of the aorta Thin vermilion border Long face Micromelia Keratoconus Brachycephaly Syndactyly Blindness Shield chest Postductal coarctation of the aorta Synovitis Malignant hyperthermia Restrictive cardiomyopathy Primary amenorrhea Bicuspid aortic valve Azoospermia Plagiocephaly Lymphedema Amblyopia Left ventricular hypertrophy Clumsiness Low posterior hairline Poor suck Ventricular hypertrophy Coarctation of aorta Amenorrhea Wide intermamillary distance Webbed neck Dental malocclusion Triangular face High, narrow palate Arnold-Chiari malformation Pterygium Atrial flutter Male infertility Nonimmune hydrops fetalis Drusen Hyposegmentation of neutrophil nuclei Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Cystic hygroma Elevated alkaline phosphatase Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Myelodysplasia Patent foramen ovale Failure to thrive in infancy Blue cone monochromacy Myopathy Nonprogressive visual loss Abnormality of the liver Delayed cranial suture closure High pitched voice Hypocalcemia Small nail Decreased testicular size Infertility Carious teeth Small for gestational age Prominent forehead Basal ganglia calcification Severe short stature Microphthalmia Macrocephaly Intrauterine growth retardation Flexion contracture Hyperechogenic pancreas Laryngeal cleft Subglottic stenosis High hypermetropia Proportionate short stature Prolonged prothrombin time Congenital hypoparathyroidism Abnormal circulating follicle-stimulating hormone level Transient hypophosphatemia Retinal calcification Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Thin long bone diaphyses Cortical thickening of long bone diaphyses Postnatal macrocephaly Thickened cortex of long bones Papilledema Hypocalcemic tetany Hypocalcemic seizures Persistence of primary teeth Bilateral microphthalmos Delayed closure of the anterior fontanelle Tetany Decreased skull ossification Hyperphosphatemia Hypoparathyroidism Normocytic anemia Prolonged partial thromboplastin time Pallor Generalized hypopigmentation Wide mouth Autistic behavior Autism Behavioral abnormality Wide nasal bridge Hyperreflexia Moderate hypermetropia Impaired platelet aggregation Ocular albinism Synophrys Hypoplasia of the fovea Colitis Pulmonary fibrosis Albinism Horizontal nystagmus Exotropia Optic disc pallor Hypopigmentation of the skin Pulmonic stenosis Generalized tonic-clonic seizures Downturned corners of mouth Mild global developmental delay Laryngomalacia Severe failure to thrive Exocrine pancreatic insufficiency Metaphyseal dysplasia Steatorrhea Neurodevelopmental delay Mild short stature Metaphyseal irregularity Metaphyseal widening Genu varum Epileptic encephalopathy Severe muscular hypotonia Rhizomelia Scarring Respiratory tract infection Enlarged cisterna magna Obsessive-compulsive behavior Cerebral visual impairment Broad-based gait Status epilepticus Allergy Irregular astigmatism Hypotrichosis Myoclonus Neurological speech impairment Corneal opacity Abnormality of the eye Proteinuria Arthritis EEG abnormality Hepatosplenomegaly Osteoporosis Dementia Abnormality of eye movement Recurrent respiratory infections Short palpebral fissure Arrhythmia Depressivity Kyphosis Narrow palpebral fissure Oligodontia Hepatomegaly Delayed puberty Lymphadenopathy Ataxia Cyanosis Anorexia Decreased body weight Osteoarthritis Progressive neurologic deterioration Epistaxis Pancytopenia Apraxia Abnormality of the cardiovascular system Syncope Abnormality of skin pigmentation Parkinsonism Hypodontia Asthma Prominent nose Ascites Hematuria Microdontia Cirrhosis Myopathic facies Scoliosis Bone pain Lactic acidosis Tachypnea Exercise intolerance Cardiac arrest Hemiparesis Muscle weakness Aciduria Increased serum lactate Generalized muscle weakness Stroke Easy fatigability Feeding difficulties in infancy Mental deterioration Hypertension Acidosis Respiratory insufficiency Glaucoma Cerebellar hypoplasia Respiratory distress Ragged-red muscle fibers Recurrent upper respiratory tract infections Thin eyebrow 3-Methylglutaconic aciduria Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Exercise-induced lactic acidemia Infantile axial hypotonia Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination Skeletal myopathy Abnormal electroretinogram Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Meningocele Mitochondrial myopathy Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Premature ovarian insufficiency Hepatic fibrosis Unsteady gait Leukemia Micrognathia Fever Immunodeficiency Depressed nasal bridge Hyperactivity Ptosis Narrow mouth Pain Sensorineural hearing impairment Neoplasm Abnormality of the dentition Horizontal supranuclear gaze palsy Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Ventricular septal defect Atrial septal defect Abnormal platelet function Posteriorly rotated ears Broad forehead Corneal scarring Sparse hair Low-set, posteriorly rotated ears Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Hypogonadism Rod-cone dystrophy Vomiting Abnormal heart morphology Patent ductus arteriosus Clinodactyly Pectus excavatum Hernia Abnormality of cardiovascular system morphology Dilatation Intellectual disability, mild Orthopnea Arthralgia of the hip Meningitis Clubbing Interstitial pulmonary abnormality Pericardial effusion Petechiae Abnormality of coagulation Increased antibody level in blood Osteomyelitis Anxiety Attention deficit hyperactivity disorder Abnormality of the thorax Exertional dyspnea Portal hypertension Cholelithiasis Increased susceptibility to fractures Reduced bone mineral density Leukopenia Oculomotor apraxia Osteolysis Spastic paraparesis Pathologic fracture Aseptic necrosis Flank pain Avascular necrosis of the capital femoral epiphysis Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Generalized osteosclerosis Abnormality of the spleen Abnormal myocardium morphology Protuberant abdomen Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Increased serum ferritin Bipolar affective disorder Hepatocellular carcinoma Gingival bleeding Abnormality of the medullary cavity of the long bones


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