Myopia, and Parkinsonism

Diseases related with Myopia and Parkinsonism

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


Top matches:

Medium match GAUCHER DISEASE TYPE 1


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

Medium match X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Medium match HYPEREKPLEXIA 2; HKPX2


Related symptoms:

  • Seizures
  • Spasticity
  • Motor delay
  • Hyperreflexia
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 2; HKPX2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match LOPES-MACIEL-RODAN SYNDROME; LOMARS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LOPES-MACIEL-RODAN SYNDROME; LOMARS

Low match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Low match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11


Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match MYOPIA 6; MYP6


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


SOURCES: MESH OMIM MENDELIAN

More info about MYOPIA 6; MYP6

Low match STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Myopia and Parkinsonism

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Tremor Gait disturbance Generalized hypotonia Cataract Delayed speech and language development Strabismus Motor delay Cognitive impairment Scoliosis Intellectual disability, severe Absent speech Hernia Corneal opacity Hypertonia Failure to thrive Hypoplasia of the corpus callosum Attention deficit hyperactivity disorder Feeding difficulties Muscular hypotonia Microcephaly Growth delay Intrauterine growth retardation Kyphosis Sensorineural hearing impairment Hypermetropia Midface retrusion

Rare Symptoms - Less than 30% cases


Neonatal hypotonia Muscular hypotonia of the trunk Intellectual disability, moderate Feeding difficulties in infancy Irritability Mandibular prognathia Hyperactivity Pes cavus Cryptorchidism Constipation Malar flattening Dystonia Behavioral abnormality Ptosis Hypogonadism Pectus excavatum Hearing impairment Abnormal facial shape Cleft palate Periorbital edema Autistic behavior Open mouth Broad forehead Flexion contracture Abnormal pyramidal sign Pulmonic stenosis Bradykinesia Dilated cardiomyopathy Rigidity Glaucoma Visual impairment Retinal detachment Cerebellar hypoplasia Macrocephaly Ventriculomegaly Elevated serum creatine phosphokinase Respiratory distress Atrial septal defect Developmental regression Cerebellar atrophy Unilateral renal agenesis Chronic constipation Joint hyperflexibility Long face Chorea Narrow face Dysarthria Mask-like facies Hemivertebrae Pain Urethral stenosis Abnormality of lipid metabolism Hyperreflexia Gastroesophageal reflux Esotropia Exaggerated startle response Redundant skin Myopathy Proteinuria Myoclonus Meningitis Apraxia Abnormality of the cardiovascular system Retinopathy Hypotelorism Diabetes mellitus Micropenis Inguinal hernia Osteoporosis Hypothyroidism High forehead Portal hypertension Abdominal pain Cholelithiasis Increased bone mineral density Small for gestational age Leukopenia Recurrent respiratory infections Anemia Dysmetria Abnormality of the dentition Broad nasal tip Long philtrum EEG abnormality Obesity Congestive heart failure Renal agenesis Renal hypoplasia Thrombocytopenia Depressivity Neurological speech impairment Delayed skeletal maturation Osteopenia Reduced bone mineral density Soft skin Nevus flammeus Sacral dimple Mitral valve prolapse Hypoplasia of penis Arnold-Chiari type I malformation Posterior embryotoxon Coarctation of aorta Megalocornea Insomnia Restlessness Cardiomegaly Hypsarrhythmia Facial cleft Abnormality of extrapyramidal motor function Multiple renal cysts Poor coordination Tubulointerstitial nephritis Enuresis Dental malocclusion Otitis media Abnormality of the cerebral vasculature Microdontia Abnormality of the neck Dehydration Large earlobe Right ventricular hypertrophy Pulmonary artery stenosis Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Down-sloping shoulders High hypermetropia Patellar dislocation Abnormality of the vasculature Tetralogy of Fallot Narrow forehead Prematurely aged appearance Polyuria Type II diabetes mellitus Polycystic ovaries Nephritis Hypogonadotrophic hypogonadism Nephrocalcinosis Abnormality of dental enamel Abnormality of the fingernails Abnormality of the voice Precocious puberty Radioulnar synostosis Failure to thrive in infancy Hypercalciuria Dysphonia Incoordination Increased body weight Abnormality of pelvic girdle bone morphology Adducted thumb Arnold-Chiari malformation Spina bifida occulta Schizophrenia Cutis laxa Abnormal dermatoglyphics Progressive hearing impairment Widely spaced teeth Infantile muscular hypotonia Ischemic stroke Pointed chin Chronic otitis media Celiac disease Abnormality of dental morphology Ventricular hypertrophy Vertebral segmentation defect Premature graying of hair Hallux valgus Open bite Loss of consciousness Bicuspid aortic valve Glucose intolerance Tracheoesophageal fistula Small nail Hypoplastic toenails Thick lower lip vermilion Hoarse voice Myocardial infarction Hemiparesis Recurrent otitis media Mitral regurgitation Abnormal form of the vertebral bodies Involuntary movements Recurrent urinary tract infections Nephrolithiasis Obsessive-compulsive behavior Amblyopia Gingival overgrowth Aortic valve stenosis Hypercalcemia Vascular tortuosity Villous atrophy Deeply set eye Limb undergrowth Decreased testicular size Convex nasal ridge Progressive cerebellar ataxia Triangular face Polyneuropathy Sensory neuropathy Falls Synophrys Prominent nasal bridge Short philtrum Sparse hair Postnatal growth retardation Severe short stature Sloping forehead Babinski sign Clinodactyly Recurrent infections Immunodeficiency Cardiomyopathy Peripheral neuropathy Neoplasm Nystagmus CNS hypomyelination Leukodystrophy Abnormality of the nervous system Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Pigmentary retinopathy Epidermal acanthosis Functional abnormality of male internal genitalia Ectopic kidney Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification High pitched voice Cutaneous photosensitivity Sensory axonal neuropathy Bilateral cryptorchidism Postural tremor Dysdiadochokinesis Slurred speech Goiter Acanthosis nigricans Short chin Bone marrow hypocellularity Hypergonadotropic hypogonadism Lymphopenia Insulin resistance Abnormal lung morphology Broad-based gait Descending aorta hypoplasia Stellate iris Dyslexia Dysgraphia Abnormality of the ankles Chest pain Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Arterial stenosis Overriding aorta Rectal prolapse Peptic ulcer Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Periorbital fullness Gait imbalance Abnormality of refraction Cerebral ischemia Tubulointerstitial abnormality Aortic arch aneurysm Dyssynergia Impaired visuospatial constructive cognition Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Supravalvular aortic stenosis Obsessive-compulsive trait Flat cornea Abnormal social behavior Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Synostosis of joints Nocturia Vesicoureteral reflux Depressed nasal bridge Sudden cardiac death Vascular calcification Joint hypermobility Ophthalmoplegia Aggressive behavior Abnormality of metabolism/homeostasis Vomiting Horizontal supranuclear gaze palsy Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Erlenmeyer flask deformity of the femurs Choreoathetosis Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Hypersplenism Esodeviation Generalized osteosclerosis Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Delayed myelination Clumsiness Multiple myeloma Abnormality of creatine metabolism Small hand Unsteady gait Poor speech Severe global developmental delay Cerebral atrophy Dysphagia Glabellar reflex Hiatus hernia Astigmatism Underfolded superior helices Poor hand-eye coordination Duodenal ulcer Aganglionic megacolon Impaired social interactions Ileus Speech apraxia Self-mutilation Myopathic facies Athetosis Language impairment Cachexia External ophthalmoplegia Exotropia Stereotypy Tall stature Abnormal myocardium morphology Supranuclear gaze palsy Focal-onset seizure Abnormality of skin pigmentation Pulmonary arterial hypertension Pancytopenia Cyanosis Syncope Generalized myoclonic seizures Abnormal bleeding Abdominal distention Ascites Hematuria Bruising susceptibility Cirrhosis Lymphadenopathy Progressive neurologic deterioration Abnormality of eye movement Delayed puberty Abnormality of the eye Arthritis Hepatosplenomegaly Dyspnea Dementia Arrhythmia Splenomegaly Diarrhea Fatigue Hepatomegaly Epistaxis Osteoarthritis Vertebral compression fractures Abnormality of coagulation Edema of the lower limbs Increased serum ferritin Bipolar affective disorder Hepatocellular carcinoma Gingival bleeding Protuberant abdomen Aseptic necrosis Exertional dyspnea Pathologic fracture Interstitial pulmonary abnormality Pericardial effusion Petechiae Increased antibody level in blood Decreased body weight Osteomyelitis Menorrhagia Leukocytosis Clubbing Abnormality of the thorax Increased susceptibility to fractures Oculomotor apraxia Osteolysis Spastic paraparesis Bone pain Hepatic fibrosis Anorexia Short foot High myopia Full cheeks Short nose Umbilical hernia Coarse facial features Arthralgia Kyphoscoliosis Macrotia Autism Cerebral cortical atrophy Clinodactyly of the 5th finger Abnormal heart morphology Patent ductus arteriosus Renal insufficiency Intellectual disability, mild Anxiety Ventricular septal defect Wide nasal bridge Epicanthus Hypertension Micrognathia Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Agyria Cerebellar cyst Type II lissencephaly Pes planus Joint laxity Buphthalmos Nausea and vomiting Macroglossia Hypodontia Postural instability Sleep disturbance Everted lower lip vermilion Thick vermilion border Oral cleft Smooth philtrum Genu valgum Malabsorption Carious teeth Stroke Hypertrophic cardiomyopathy Abnormal cardiac septum morphology Scarring Blepharophimosis Craniosynostosis Wide mouth Joint stiffness Paralysis Protruding ear Hyperlordosis Abnormality of the kidney Low-set, posteriorly rotated ears Cleft lip Cerebellar dysplasia Myocardial fibrosis Tetraparesis Areflexia Congenital cataract Arthrogryposis multiplex congenita Abnormality of the cerebral white matter Dolichocephaly Muscular dystrophy Hip dislocation Camptodactyly of finger Abnormality of the pinna Apnea Brachycephaly Agenesis of corpus callosum Dilatation Abnormal cerebellum morphology Microphthalmia Hydrocephalus Respiratory insufficiency Optic atrophy Skeletal muscle atrophy Muscle weakness Caudate atrophy Bruxism Central hypotonia Ankle clonus Focal impaired awareness seizure Spastic tetraparesis Polymicrogyria Generalized muscle weakness Retinal dysplasia Hypoplasia of the brainstem Ankle contracture Anencephaly Atrophy/Degeneration affecting the brainstem Weak cry Transposition of the great arteries Spinal rigidity Cortical dysplasia Generalized amyotrophy Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Congenital muscular dystrophy Brain atrophy Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Lissencephaly Holoprosencephaly Knee flexion contracture EMG abnormality Congenital hip dislocation Bradycardia Preauricular skin tag Pachygyria Encephalocele Cerebellar vermis hypoplasia Abnormal vitreous humor morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Delayed puberty, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more