Cataract, and Mitral valve prolapse

Diseases related with Cataract and Mitral valve prolapse

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


Top matches:

Low match STICKLER SYNDROME TYPE 1


Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Low match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Low match WEILL-MARCHESANI SYNDROME 1; WMS1


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). Genetic Heterogeneity of Weill-Marchesani SyndromeA phenotypically similar, autosomal dominant form of WMS (WMS2 ) is caused by mutation in the FBN1 gene (OMIM ) on chromosome 15q21. Autosomal recessive WMS3 (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) on chromosome 14q24. Autosomal recessive WMS4 (OMIM ) is caused by mutation in the ADAMTS17 gene (OMIM ) on chromosome 15q24.

WEILL-MARCHESANI SYNDROME 1; WMS1 Is also known as weill-marchesani syndrome, autosomal recessive|mesodermal dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 1; WMS1

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Other less relevant matches:

Low match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Low match MASS SYNDROME


MASS SYNDROME Is also known as octd|overlap connective tissue disease|mass phenotype

Related symptoms:

  • Dilatation
  • Mitral valve prolapse
  • Ectopia lentis
  • Aortic aneurysm
  • Disproportionate tall stature


SOURCES: ORPHANET OMIM MENDELIAN

More info about MASS SYNDROME

Low match SPONDYLO-OCULAR SYNDROME


Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

Low match MYOTONIC DYSTROPHY 1; DM1


Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Low match AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968). Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA DeletionsSee also PEOB2 (OMIM ), caused by mutation in the RNASEH1 gene (OMIM ) on chromosome 2p25; PEOB3 (OMIM ), caused by mutation in the TK2 gene (OMIM ) on chromosome 16q21; PEOB4 (OMIM ), caused by mutation in the DGUOK gene (OMIM ) on chromosome 2p13; and PEOB5 (OMIM ), caused by mutation in the TOP3A gene (OMIM ) on chromosome 17p11.

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as arpeo|progressive external ophthalmoplegia, autosomal recessive 1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Low match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Low match PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME


Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Top 5 symptoms//phenotypes associated to Cataract and Mitral valve prolapse

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Myopia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilatation Short stature Ventricular septal defect Glaucoma Stroke Abnormal vitreous humor morphology Abnormal facial shape Hypogonadism Muscle weakness Visual loss Hydrocephalus Mitral regurgitation Ectopia lentis Cognitive impairment Retinal detachment Long philtrum

Rare Symptoms - Less than 30% cases


Generalized hypotonia Aortic root aneurysm Spasticity Aortic aneurysm Cerebellar atrophy Hemianopia Posterior embryotoxon Dysphasia Hemiplegia Dysarthria Elevated serum creatine phosphokinase Stroke-like episode Unsteady gait Visual impairment Cerebral atrophy Retrognathia Failure to thrive Growth delay Dilated cardiomyopathy Cardiomyopathy Premature birth Tachycardia Respiratory failure Arrhythmia Myopathy Atrial septal defect Respiratory distress Dysphagia Peripheral neuropathy Ptosis Preauricular pit Amblyopia Abnormal cardiac septum morphology Pes planus Depressivity Microphthalmia Global developmental delay Intellectual disability, progressive Midface retrusion Osteoporosis Micrognathia Proptosis Hypoplasia of the maxilla Pectus excavatum High myopia Lumbar hyperlordosis Long fingers Osteoarthritis Platyspondyly Cleft palate Depressed nasal bridge Arthralgia Pectus carinatum Joint hyperflexibility Arachnodactyly Blindness Abnormal heart morphology Impaired distal vibration sensation Optic neuritis Microcephaly Homonymous hemianopia Stooped posture Sensory ataxic neuropathy Multiple mitochondrial DNA deletions Impaired distal proprioception Progressive ophthalmoplegia Short nose Subsarcolemmal accumulations of abnormally shaped mitochondria Spinal canal stenosis Feeding difficulties Hypertrophic cardiomyopathy Abnormality of skin pigmentation Anal atresia Nail dystrophy Corneal opacity Skin rash Coloboma Blepharophimosis Erythema Dyspnea Wide nasal bridge Micropenis Severe short stature Agenesis of corpus callosum Hypospadias Hernia Abnormality of metabolism/homeostasis Abnormality of cardiovascular system morphology Syndactyly Cytochrome C oxidase-negative muscle fibers Abnormal nerve conduction velocity Muscle fiber necrosis External ophthalmoplegia Mask-like facies Steppage gait Emotional lability Postural tremor Ophthalmoparesis Dysphonia EMG: myopathic abnormalities Ragged-red muscle fibers Respiratory insufficiency due to muscle weakness Increased variability in muscle fiber diameter Scapular winging Exercise intolerance Muscle stiffness Limb ataxia Bradykinesia Parkinsonism Generalized muscle weakness Distal sensory impairment Peripheral axonal neuropathy Sensory axonal neuropathy Mildly elevated creatine phosphokinase Abnormality of the cerebrospinal fluid Cogwheel rigidity Iris coloboma Neuritis Weak voice Increased muscle fatiguability Positive Romberg sign Muscle fiber atrophy Hand muscle weakness Parkinsonism with favorable response to dopaminergic medication Gastrointestinal dysmotility Generalized amyotrophy Shuffling gait Action tremor Dyschromatopsia Progressive proximal muscle weakness Increased CSF protein Progressive external ophthalmoplegia Mitochondrial myopathy Abnormality of the periventricular white matter Abnormal retinal morphology Wide nose Ambiguous genitalia Retinal dystrophy Vitritis Downslanted palpebral fissures Macrocephaly Intrauterine growth retardation Hypertension Anal fistula Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Histiocytoid cardiomyopathy Gastroesophageal reflux Orbital cyst Chorioretinal dysplasia Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Abnormality of the penis Mandibular aplasia Overriding aorta Prominent forehead Craniosynostosis Tricuspid valve prolapse Scaphocephaly Narrow palm Dural ectasia Pes valgus Hyperextensibility of the finger joints Entropion Progeroid facial appearance Narrow nose Severe intrauterine growth retardation Reduced subcutaneous adipose tissue Prominent nasal bridge Lipodystrophy Relative macrocephaly Cutis laxa Increased body weight Tall stature Oligohydramnios High, narrow palate Bruising susceptibility Arthrogryposis multiplex congenita Abnormality of the anus Abnormal nasolacrimal system morphology Hypopigmentation of the skin Sacral dimple Tricuspid regurgitation Ventricular fibrillation Anophthalmia Clitoral hypertrophy Patent foramen ovale Dermal atrophy Mutism Hypopigmented skin patches Abnormality of dental enamel Aphasia Abnormality of the nail Hyperpigmentation of the skin Cafe-au-lait spot Abnormality of retinal pigmentation Status epilepticus Congenital diaphragmatic hernia Confusion Pigmentary retinopathy Specific learning disability Albinism Hypoplasia of the uterus Epispadias Abnormal eyelid morphology Abnormality of earlobe Chordee Periventricular leukomalacia Colpocephaly Abnormality of the testis Supraventricular tachycardia Echolalia Retinal dysplasia Ocular albinism Congenital glaucoma Sclerocornea Male pseudohermaphroditism Abnormal eyelash morphology Anencephaly Aplasia cutis congenita Anteriorly placed anus Absent septum pellucidum Aplasia/Hypoplasia of the skin Abnormality of the ear Paresthesia Gait ataxia Limb muscle weakness Pontocerebellar atrophy Abnormality of the sternum Disproportionate tall stature Brachydactyly Antenatal intracerebral hemorrhage Spastic hemiparesis Perivascular spaces Schizencephaly Primitive reflex Scoliosis Porencephalic cyst Intellectual disability, mild Nuclear cataract Facial paralysis Transient ischemic attack Hypoplasia of the iris Patent ductus arteriosus Restlessness Striae distensae Abnormal metacarpal morphology Visual field defect Posteriorly rotated ears Low posterior hairline Webbed neck Thin vermilion border Congenital cataract Joint hypermobility Hyperlordosis Bifid uvula Osteopenia Spondyloepiphyseal dysplasia Hypertelorism Kyphosis Arthropathy Short neck Glossoptosis Low-set ears Exostoses Pierre-Robin sequence Nystagmus Limb dystonia Opisthotonus Accelerated skeletal maturation Broad phalanges of the hand Ventriculomegaly Thickened skin Anemia Aortic valve stenosis Narrow palate Strabismus Abnormality of dental morphology Broad palm Broad skull Dystonia Microspherophakia Broad metacarpals Broad metatarsal Shallow anterior chamber Thin bony cortex Broad ribs Misalignment of teeth Shallow orbits Hypertonia Pulmonic stenosis Cortical dysplasia Tetraparesis Cerebral hemorrhage Intracranial hemorrhage Ischemic stroke Drooling Cerebral palsy Leukoencephalopathy Exotropia Hemiparesis Muscle cramps Joint stiffness Renal cyst Hematuria Hemolytic anemia Polymicrogyria Brachycephaly Abnormal pyramidal sign Cerebellar hypoplasia Babinski sign Decreased body weight Hyperextensible skin Ophthalmoplegia Thin ribs Testicular atrophy Atrial flutter Nonimmune hydrops fetalis Facial diplegia Heart block Abnormal EKG Neurofibrillary tangles Centrally nucleated skeletal muscle fibers Alzheimer disease Frontal balding Myotonia Cholelithiasis Atrioventricular block Ventricular tachycardia Spontaneous abortion Cardiac arrest Insulin resistance Hydrops fetalis First degree atrioventricular block Excessive daytime sleepiness Atrial fibrillation Pes cavus Abnormality of the cerebral white matter Skeletal dysplasia Distal muscle weakness Facial palsy Anxiety Proximal muscle weakness Rigidity Proportionate short stature Hyporeflexia Narcolepsy Areflexia Fatigue Tremor Optic atrophy Ataxia Ring fibers Percussion myotonia Obsessive-compulsive trait Progressive muscle weakness Decreased fetal movement Increased susceptibility to fractures Disproportionate short-trunk short stature Left hemiplegia Dysplastic aortic valve Aplasia/Hypoplasia of the lens Abnormality of the intervertebral disk Long toe Unilateral cryptorchidism Shield chest Thickened helices Vertebral compression fractures Pain Facial hypotonia Abnormality of the antihelix Abnormal eyebrow morphology Posterior subcapsular cataract Thoracic kyphosis Iris hypopigmentation Subcapsular cataract Retinopathy Muscular hypotonia Delayed speech and language development Brain atrophy Polyhydramnios Sensory neuropathy Lower limb muscle weakness Talipes Muscular dystrophy Feeding difficulties in infancy Mental deterioration Myalgia Neonatal hypotonia Cerebral cortical atrophy Motor delay Abnormality of epiphysis morphology Dementia Abnormality of vertebral epiphysis morphology Intellectual disability, severe Edema Anteverted nares Malar flattening Skeletal muscle atrophy Prominent scalp veins



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