Cataract, and Hypertrophic cardiomyopathy

Diseases related with Cataract and Hypertrophic cardiomyopathy

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


Top matches:

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3 Is also known as naga deficiency type 3|schindler disease type 3

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B


Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

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Other less relevant matches:

Low 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

Low match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Is also known as vogt-spielmeyer disease|batten disease|spielmeyer-sjogren disease|jncl|neuronal ceroid lipofuscinosis, juvenile

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

Low match MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Low 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

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Low match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

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

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment Myalgia Micrognathia Congestive heart failure Delayed speech and language development Global developmental delay Optic atrophy Pneumonia Nystagmus Bundle branch block Scoliosis Ptosis Muscle weakness Microcephaly

Rare Symptoms - Less than 30% cases


Glaucoma Increased serum lactate Renal insufficiency Cryptorchidism Gliosis Dysarthria Retinal atrophy Cerebellar atrophy Elevated serum creatine phosphokinase Retinal degeneration Pigmentary retinopathy Mildly elevated creatine phosphokinase Dilated cardiomyopathy Ataxia Arrhythmia Vertigo Flexion contracture Peripheral neuropathy Right bundle branch block Bulbous nose Constipation Lactic acidosis Failure to thrive Congenital cataract Ophthalmoplegia Generalized muscle weakness External ophthalmoplegia Ragged-red muscle fibers Strabismus Acidosis Obesity Skeletal myopathy Respiratory distress Feeding difficulties Cognitive impairment Deeply set eye Hypokinesia Bulbar palsy Spinal rigidity Proximal muscle weakness Rimmed vacuoles Centrally nucleated skeletal muscle fibers Neck muscle weakness Heart block Progressive proximal muscle weakness Ventricular extrasystoles Restrictive cardiomyopathy Atrial flutter Facial palsy Myofibrillar myopathy Hyporeflexia of lower limbs Right ventricular cardiomyopathy Intestinal pseudo-obstruction Sick sinus syndrome Dyspnea Respiratory failure Third degree atrioventricular block Late-onset proximal muscle weakness Pica Difficulty climbing stairs Increased variability in muscle fiber diameter Limb muscle weakness Progressive muscle weakness Muscular dystrophy Lower limb muscle weakness Paresthesia Tachycardia Sudden cardiac death Chest pain Syncope Ventricular hypertrophy Myocardial infarction Atrial fibrillation Palpitations Muscle stiffness Tricuspid regurgitation Elbow flexion contracture Scapular winging Ventricular tachycardia Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Atrioventricular block Restrictive heart failure Distal muscle weakness Limb-girdle muscular dystrophy Akinesia Joint stiffness Wide mouth Wide nasal bridge Hypertelorism High forehead Narrow naris Abnormal facial shape Spasticity Myopia Frontal bossing Abnormality of the skeletal system Short nose Absent speech Delayed skeletal maturation Upslanted palpebral fissure Gait ataxia Mandibular prognathia Muscular hypotonia of the trunk Cavum septum pellucidum Pectus carinatum Delayed puberty Abnormality of the foot Peripheral axonal neuropathy Long face Distal amyotrophy Inability to walk Esotropia Aciduria Hip dysplasia Absence seizures Optic nerve hypoplasia Wide nasal base Entropion Low-set ears Retrognathia Motor delay Diarrhea Downslanted palpebral fissures Ventricular septal defect Talipes equinovarus Ventriculomegaly Hypoplasia of the corpus callosum Atrial septal defect Hernia Inguinal hernia Micropenis Macrotia Camptodactyly Disproportionate tall stature Protruding ear Blepharophimosis Polymicrogyria Triangular face Sepsis Focal-onset seizure Convex nasal ridge Sloping forehead Pointed chin Narrow palpebral fissure Cutis laxa Focal impaired awareness seizure Mask-like facies Dilatation Left bundle branch block Respiratory insufficiency Dystonia Abnormal vagina morphology Aplasia/Hypoplasia of the iris Streak ovary Displacement of the external urethral meatus Dysfunction of lateral corticospinal tracts Muscular hypotonia Gowers sign Dysphonia Tremor Blindness Behavioral abnormality Cerebral atrophy Gonadoblastoma Depressivity Encephalopathy Visual loss Exercise intolerance Rod-cone dystrophy Dementia Myoclonus Anxiety Mental deterioration Confusion Abnormal cerebellum morphology Peters anomaly Abnormality of the uterus Nevus Mitochondrial myopathy Midface retrusion Hypertonia Neuronal loss in central nervous system Left ventricular noncompaction Hyperalaninemia Short stature Anteverted nares Depressed nasal bridge Neoplasm Microphthalmia Hypospadias Corneal opacity Hemihypertrophy Leukemia Nephropathy Everted lower lip vermilion Microcornea Ambiguous genitalia Abnormality of the genital system Abnormality of the genitourinary system Nephroblastoma Aniridia Acute lymphoblastic leukemia Hearing abnormality Renal neoplasm Parkinsonism Memory impairment Gait disturbance Aplasia/Hypoplasia of the cerebellum Diabetes mellitus Proteinuria Abnormality of the kidney Retinopathy Malabsorption Unsteady gait Fatigue Bilateral sensorineural hearing impairment Type II diabetes mellitus Pancytopenia Constriction of peripheral visual field Hyperglycemia Hypertension Skeletal muscle atrophy Vestibular dysfunction Macular dystrophy Abnormal retinal morphology Progressive sensorineural hearing impairment Glomerulopathy Abnormality of lipid metabolism Facial asymmetry Abnormal chorioretinal morphology Pain Autism Hepatomegaly Dysphagia Sensorineural hearing impairment Progressive visual loss Vegetative state Generalized-onset seizure Psychosis Clumsiness Aspiration Macular degeneration Mutism Progressive encephalopathy Aspiration pneumonia Pendular nystagmus Undetectable electroretinogram Tapetoretinal degeneration Psychomotor deterioration Hearing impairment Oromandibular dystonia Vacuolated lymphocytes Autophagic vacuoles Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Concentric hypertrophic cardiomyopathy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Presenile cataracts Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Cerebral degeneration Increased extraneuronal autofluorescent lipopigment Progressive inability to walk Abnormality of mitochondrial metabolism



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Retinal degeneration, related diseases and genetic alterations Brachydactyly and Broad nasal tip, related diseases and genetic alterations Tremor and Intellectual disability, mild, related diseases and genetic alterations Obesity and Hydrocephalus, related diseases and genetic alterations Cardiomyopathy and Wide mouth, related diseases and genetic alterations

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