Cataract, and Dilated cardiomyopathy

Diseases related with Cataract and Dilated cardiomyopathy

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


Top matches:

Medium match CARDIOMYOPATHY, DILATED, 1II; CMD1II


Related symptoms:

  • Cataract
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1II; CMD1II

Medium match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

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Other less relevant matches:

Medium match SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME


Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Medium match RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA


Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA Is also known as inverse recessive dystrophic epidermolysis bullosa|rdeb-i|dystrophic epidermolysis bullosa inversa|inverse rdeb

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA

Medium match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Medium match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Medium match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Medium match MYOTONIC DYSTROPHY 2; DM2


Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Medium match SPINOCEREBELLAR ATAXIA WITH EPILEPSY


Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

SPINOCEREBELLAR ATAXIA WITH EPILEPSY Is also known as mitochondrial spinocerebellar ataxia with epilepsy|mscae|sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive|scae

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH EPILEPSY

Top 5 symptoms//phenotypes associated to Cataract and Dilated cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Dilated cardiomyopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Increased variability in muscle fiber diameter Muscle weakness Myopathy Ptosis Proximal muscle weakness Constipation Flexion contracture Distal muscle weakness Tachycardia Sudden cardiac death Seizures

Rare Symptoms - Less than 30% cases


Myalgia Abnormality of the anus Milia Atrophic scars Muscular dystrophy Corneal erosion Ankyloglossia Squamous cell carcinoma of the skin Esophageal stricture Centrally nucleated skeletal muscle fibers Intestinal pseudo-obstruction Mental deterioration Abnormal blistering of the skin Pneumonia Ventricular tachycardia Arrhythmia Hypertension Hypogonadism Mildly elevated creatine phosphokinase Tremor Gait disturbance Peripheral neuropathy Cognitive impairment Lower limb muscle weakness Limb muscle weakness Paresthesia Neuronal loss in central nervous system Progressive muscle weakness Palpitations Acidosis Deeply set eye Hypertrophic cardiomyopathy Lactic acidosis Gliosis Nail dystrophy Increased serum lactate Pain Narrow mouth Growth delay Anemia Global developmental delay Hypercholesterolemia IgM deficiency Skeletal muscle atrophy Elevated circulating follicle stimulating hormone level Spontaneous abortion Diabetes mellitus Myotonia Decreased antibody level in blood Epiphora Oligospermia Leukoencephalopathy IgG deficiency Confusion Infertility Neurofibrillary tangles Male hypogonadism Rimmed vacuoles Intellectual disability Bulbar palsy Neck muscle weakness Heart block Progressive proximal muscle weakness Ventricular extrasystoles Atrial flutter Restrictive cardiomyopathy Myofibrillar myopathy Spinal rigidity Hypokinesia Restrictive heart failure Skeletal myopathy Arteriosclerosis Hyporeflexia of lower limbs Difficulty climbing stairs Right ventricular cardiomyopathy Sick sinus syndrome Third degree atrioventricular block Late-onset proximal muscle weakness Pica Neck flexor weakness Myoclonus Hypersomnia Axonal loss Cerebral visual impairment External ophthalmoplegia Progressive hearing impairment Ragged-red muscle fibers Bilateral ptosis Abnormality of mitochondrial metabolism Ophthalmoparesis Sensory axonal neuropathy Impotence Vestibular dysfunction Axonal degeneration Gaze-evoked nystagmus Decreased number of peripheral myelinated nerve fibers Hyperventilation Frequent falls Progressive external ophthalmoplegia Progressive gait ataxia Sensory ataxia Positive Romberg sign Acute encephalopathy Gastroparesis Muscle fiber necrosis Cytochrome C oxidase-negative muscle fibers Impaired distal vibration sensation Impaired distal proprioception Multiple mitochondrial DNA deletions Subsarcolemmal accumulations of abnormally shaped mitochondria Sensory ataxic neuropathy Limb ataxia Status epilepticus Type 2 muscle fiber atrophy Areflexia Frontal balding Diffuse leukoencephalopathy Insulin insensitivity Iridescent posterior subcapsular cataract Ataxia Nystagmus Sensorineural hearing impairment Visual impairment Dysarthria Blindness Headache Depressivity Encephalopathy Hyporeflexia Focal-onset seizure Pes cavus Weight loss Gait ataxia EEG abnormality Ophthalmoplegia Abnormality of eye movement Peripheral axonal neuropathy Falls Distal sensory impairment Polyneuropathy Progressive cerebellar ataxia Generalized myoclonic seizures Brain atrophy Migraine Right bundle branch block Facial palsy Bundle branch block Azoospermia Abnormal facial shape Low-set ears Long philtrum Retrognathia Stroke Wide nose Small hand Growth hormone deficiency Decreased testicular size Short phalanx of finger Hypergonadotropic hypogonadism Cerebral hemorrhage Short stature Premature graying of hair Stroke-like episode Abnormal left ventricle morphology Congenital ptosis Broad finger Abnormality of the nares Abnormal hand morphology Moyamoya phenomenon Neoplasm Syndactyly Visual loss Hypertelorism Oral mucosal blisters Osteoporosis Wide mouth Mitral regurgitation Reduced ejection fraction Generalized hypotonia Microcephaly Failure to thrive Micrognathia Feeding difficulties Depressed nasal bridge Anteverted nares Hypertonia Midface retrusion Facial asymmetry Tongue atrophy Bulbous nose Left ventricular noncompaction Hyperalaninemia Renal insufficiency Nephropathy Recurrent skin infections Keratitis Microglossia Stenosis of the external auditory canal Abnormal vagina morphology Skin erosion Alopecia Osteopenia Tricuspid regurgitation Chest pain Scoliosis Delayed speech and language development Respiratory insufficiency Respiratory distress Diarrhea Dilatation Respiratory failure Dyspnea Joint stiffness Vertigo Generalized muscle weakness Syncope Mitten deformity Ventricular hypertrophy Myocardial infarction Atrial fibrillation Muscle stiffness Elbow flexion contracture Scapular winging Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Atrioventricular block Limb-girdle muscular dystrophy Akinesia Spontaneous esophageal perforation Esophageal stenosis Carcinoma Dermal atrophy Scarring Pruritus Carious teeth Toe syndactyly Delayed puberty Nail dysplasia Progressive visual loss Hypoplasia of dental enamel Joint contracture of the hand Conjunctivitis Neoplasm of the skin Hypoalbuminemia Loss of eyelashes Ectropion Squamous cell carcinoma Malnutrition Skin vesicle Fragile skin Blepharitis Atypical scarring of skin Corneal scarring Scarring alopecia of scalp Absent toenail Absent fingernail Refractory anemia Atrophy/Degeneration involving the spinal cord



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