Cataract, and Gastroesophageal reflux

Diseases related with Cataract and Gastroesophageal reflux

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


Top matches:

Medium match COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME


COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

Medium match SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A


Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

Mendelian

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

Learn more

Other less relevant matches:

Medium match 1Q21.1 MICRODUPLICATION SYNDROME


1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Medium match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Medium match SCHINDLER DISEASE, TYPE I


Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match ADNP SYNDROME


ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

ADNP SYNDROME Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder|hvdas|mental retardation, autosomal dominant 28|mrd28|helsmoortel-van der aa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADNP SYNDROME

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES


Mitochondrial DNA depletion syndrome-13 is an autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content (summary by Bonnen et al., 2013 and Gai et al., 2013).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES Is also known as mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES

Top 5 symptoms//phenotypes associated to Cataract and Gastroesophageal reflux

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cataract and Gastroesophageal reflux. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Abnormal facial shape Failure to thrive Intellectual disability Scoliosis Cryptorchidism Generalized hypotonia Cognitive impairment Autism Nystagmus Hyperactivity Severe global developmental delay Attention deficit hyperactivity disorder Short nose Recurrent infections Hyperreflexia Hypospadias Delayed speech and language development Strabismus Muscular hypotonia Downslanted palpebral fissures Anxiety Hearing impairment Frontal bossing Hypertelorism Macrocephaly Ataxia Hernia Thin upper lip vermilion Joint laxity Absent speech Congenital cataract Abnormality of the cerebral white matter

Rare Symptoms - Less than 30% cases


Dystonia Spastic paraparesis Cerebral atrophy Epicanthus Generalized amyotrophy Cardiomyopathy Low-set ears Growth delay Hepatomegaly Cleft palate Hypoplasia of the corpus callosum Osteopenia Smooth philtrum Joint hyperflexibility Pulmonic stenosis Everted lower lip vermilion Prominent nasal bridge Stereotypy Prominent nose Skeletal dysplasia Prominent forehead Atrial septal defect Narrow face Small for gestational age Wide nasal bridge High palate Inguinal hernia Autistic behavior Intellectual disability, moderate Behavioral abnormality Paraparesis Urinary incontinence Specific learning disability Obesity Neutropenia Tetraplegia Cerebral visual impairment Thick eyebrow Coarse facial features Patent ductus arteriosus Abnormality of the skeletal system Horseshoe kidney Choreoathetosis Hypertrophic cardiomyopathy Delayed myelination Cerebellar hypoplasia Dysphagia Hypertension Aspiration Abnormality of skin pigmentation Peripheral neuropathy Spastic paraplegia Gait ataxia Clinodactyly Plagiocephaly Acidosis Skeletal muscle atrophy Gait disturbance Paraplegia Dysarthria Encephalopathy Increased urinary O-linked sialopeptides Pectus carinatum Angiokeratoma corporis diffusum Facial asymmetry Long-tract signs Blindness Constipation Vertigo Developmental regression Apnea Oral cleft Generalized myoclonic seizures Oligosacchariduria Cerebral cortical atrophy Long face Myoclonus Thick vermilion border Cleft lip Short philtrum Clonus Vascular skin abnormality Diffuse white matter abnormalities Psychomotor deterioration Vegetative state Recurrent pneumonia Abnormality of the dentition Progressive psychomotor deterioration Microphthalmia Depressivity Pectus excavatum Respiratory tract infection Micrognathia Tapered finger Cardiomegaly Generalized-onset seizure Clinodactyly of the 5th finger Posteriorly rotated ears Macrotia Aggressive behavior Angiokeratoma Lymphedema Respiratory distress Single transverse palmar crease Elevated hepatic transaminase Widely spaced teeth Bilateral ptosis Language impairment Obsessive-compulsive behavior Narrow nasal bridge Long palpebral fissure Inverted nipples Eyelid coloboma Generalized neonatal hypotonia Juvenile cataract Microtia, first degree Ventriculomegaly Cerebellar atrophy Arrhythmia Abnormality of the pinna Amblyopia Protruding ear Lactic acidosis Short foot Brain atrophy Increased serum lactate Leukodystrophy Truncal ataxia Hyperammonemia Global brain atrophy Renal tubular acidosis Concave nasal ridge Gastrointestinal dysmotility Hyperalaninemia Mitochondrial respiratory chain defects Exotropia Broad thumb Psychosis Depressed nasal bridge Pulmonary arterial hypertension Dental crowding Anorexia Aortic valve stenosis Sandal gap Nasal speech Bipolar affective disorder Shallow orbits Broad face Subvalvular aortic stenosis Six lumbar vertebrae Ptosis Feeding difficulties Visual impairment Progressive forgetfulness Sparse scalp hair Astigmatism Thick lower lip vermilion Growth hormone deficiency Small hand Iris coloboma Hirsutism Joint hypermobility Hypermetropia Abnormality of cardiovascular system morphology Broad forehead Microtia Coloboma Muscular hypotonia of the trunk Neonatal hypotonia Abnormal heart morphology Intellectual disability, severe Punctate cataract Hyperchloremic acidosis Shallow acetabular fossae Lower limb muscle weakness Abnormal cerebellum morphology Lower limb spasticity Abnormality of pelvic girdle bone morphology Impaired vibratory sensation Urinary urgency Progressive spasticity Hiatus hernia Short 5th finger Motor polyneuropathy Carpal bone hypoplasia Abnormal upper motor neuron morphology Chorioretinal dystrophy Babinski sign Dysfunction of lateral corticospinal tracts Talipes equinovarus Hydrocephalus Hypertonia Intellectual disability, mild Glaucoma Hip dislocation Arthrogryposis multiplex congenita Hip dysplasia Tetralogy of Fallot Hallucinations Schizophrenia Relative macrocephaly Pes cavus Delayed skeletal maturation Anteverted nares Abnormal cardiac septum morphology Hyporeflexia Hydronephrosis Inability to walk Renal hypoplasia Nephrolithiasis Aminoaciduria Nephrocalcinosis Poor head control Calcinosis Brachydactyly Pneumonia Proptosis Downturned corners of mouth Vomiting Vesicoureteral reflux Round face Abnormal lung morphology Long eyelashes Abnormal vertebral morphology Laryngomalacia Aspiration pneumonia Tracheal stenosis Chronic lung disease Thick hair Recurrent aspiration pneumonia Muscle weakness Myopia Constrictive median neuropathy Long philtrum Testicular dysgenesis Progressive cerebellar ataxia Motor delay Myopathy Visual loss Dementia Hypoglycemia Dilated cardiomyopathy Abnormality of movement Unsteady gait Confusion Neurodegeneration Metabolic acidosis Coma Aciduria Posterior wedging of vertebral bodies Febrile seizures Memory impairment Progressive visual loss Spastic tetraplegia Limb ataxia Spastic tetraparesis Leukoencephalopathy Athetosis Short attention span Skeletal myopathy Abnormality of the basal ganglia 3-Methylglutaconic aciduria Nonprogressive cerebellar ataxia Forehead hyperpigmentation Posterior Y-sutural cataract Malar flattening Microdontia Midface retrusion Pes planus Wide mouth Sparse hair Narrow chest Carious teeth Thin vermilion border Wide nose Delayed eruption of teeth Hypoplasia of the maxilla Bifid uvula Esotropia Large fontanelles Sutural cataract Hyperpigmentation of the skin Wide anterior fontanel Hemangioma Coarse hair Prominent supraorbital ridges Brittle hair Premature loss of teeth Capillary hemangioma Decreased skull ossification Delayed closure of the anterior fontanelle Hypoplasia of teeth Narrow iliac wings High iliac wings Persistent lactic acidosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Dysphagia, related diseases and genetic alterations Rod-cone dystrophy and Insulin resistance, related diseases and genetic alterations Neuroblastoma and Situs inversus totalis, related diseases and genetic alterations Congestive heart failure and Tachycardia, related diseases and genetic alterations Cardiomyopathy and Ulcerative colitis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more