Cataract, and Congestive heart failure

Diseases related with Cataract and Congestive heart failure

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


Top matches:

Low 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

Low match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

Low 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

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Other less relevant matches:

Low match OSTEOGENESIS IMPERFECTA TYPE 2


Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

Low match PEROXISOME BIOGENESIS DISORDER 9B; PBD9B


While most patients of PBD complementation group 11 manifest rhizomelic chondrodysplasia punctata (RCDP1 ), a few have been reported with unusually mild phenotypes with longer survival, less neurologic involvement, normal or near-normal growth, and absence of rhizomelia (Braverman et al., 2002). In some cases this phenotype was indistinguishable from that of classic Refsum disease (OMIM ) and patients carried this diagnosis.Individuals with PBDs of complementation group 11 (CG11, equivalent to CGR) have mutations in the PEX7 gene. For information on the history of PBD complementation groups, see {214100}.

PEROXISOME BIOGENESIS DISORDER 9B; PBD9B Is also known as refsum disease, adult, 2|peroxisome biogenesis disorder, pex7-related, atypical

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 9B; PBD9B

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 REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

Low match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

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 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

Top 5 symptoms//phenotypes associated to Cataract and Congestive heart failure

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Congestive heart failure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Tachycardia Dilated cardiomyopathy Peripheral neuropathy Global developmental delay Muscle weakness Myopathy Sensorineural hearing impairment Ataxia Myalgia Retinopathy Limb muscle weakness Intellectual disability Palpitations Sudden cardiac death Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases


Pes cavus Distal muscle weakness Muscular dystrophy Lower limb muscle weakness Progressive muscle weakness Cognitive impairment Flexion contracture Increased variability in muscle fiber diameter Blindness Proximal muscle weakness Pain Rod-cone dystrophy Proteinuria Chest pain Delayed speech and language development Bundle branch block Pigmentary retinopathy Vertigo Retinal degeneration Hypertrophic cardiomyopathy Diabetes mellitus Nyctalopia Constipation Elevated levels of phytanic acid Anosmia Sensorimotor neuropathy Respiratory insufficiency Polyneuropathy Ichthyosis Congenital cataract Pneumonia Tremor Hypertelorism Low-set ears Epiphyseal stippling Cerebral hemorrhage Hypogonadism Ventricular tachycardia Heart block Neck flexor weakness Pulsatile tinnitus Episodic paroxysmal anxiety Hypersomnia Arteriosclerosis Adrenal pheochromocytoma Hypertension associated with pheochromocytoma Hypertensive retinopathy Panic attack Male hypogonadism IgM deficiency Elevated circulating follicle stimulating hormone level Recurrent paroxysmal headache Oligospermia Episodic hyperhidrosis IgG deficiency Extraadrenal pheochromocytoma Elevated urinary epinephrine Elevated urinary dopamine Neurofibrillary tangles Epiphora Paraganglioma of head and neck Positive regitine blocking test Renal artery stenosis Sinus tachycardia Albuminuria Dysphonia Fatigue Hyperhidrosis Weight loss Conductive hearing impairment Carcinoma Pallor Nausea Hematuria Insulin insensitivity Diffuse leukoencephalopathy Cafe-au-lait spot Hemangioma Frontal balding Cranial nerve compression Hypercalcemia Glomerulosclerosis Aniridia Episodic abdominal pain Vocal cord paralysis Raynaud phenomenon Flushing Neoplasm of the endocrine system Pheochromocytoma Type 2 muscle fiber atrophy Paraganglioma Elevated urinary norepinephrine Paroxysmal vertigo Myotonia Episodic hypertension Atrioventricular block Generalized muscle weakness Syncope Ventricular hypertrophy Myocardial infarction Atrial fibrillation Atrial flutter Muscle stiffness Elbow flexion contracture Scapular winging Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Limb-girdle muscular dystrophy Restrictive cardiomyopathy Akinesia Tricuspid regurgitation Ventricular extrasystoles Right bundle branch block Mildly elevated creatine phosphokinase Progressive proximal muscle weakness Difficulty climbing stairs Hypokinesia Bulbar palsy Spinal rigidity Rimmed vacuoles Centrally nucleated skeletal muscle fibers Paresthesia Myofibrillar myopathy Neck muscle weakness Skeletal muscle atrophy Leukoencephalopathy Scoliosis Hypercholesterolemia Spontaneous abortion Decreased antibody level in blood Confusion Infertility Gait disturbance Respiratory distress Diarrhea Mental deterioration Dysphagia Dilatation Skeletal myopathy Restrictive heart failure Pica Late-onset proximal muscle weakness Third degree atrioventricular block Respiratory failure Sick sinus syndrome Intestinal pseudo-obstruction Right ventricular cardiomyopathy Dyspnea Hyporeflexia of lower limbs Facial palsy Neoplasm Joint stiffness Abnormal retinal morphology Hyperoxaluria Moyamoya phenomenon Growth hormone deficiency Decreased testicular size Short phalanx of finger Hypergonadotropic hypogonadism Azoospermia Premature graying of hair Stroke-like episode Abnormal left ventricle morphology Congenital ptosis Broad finger Abnormality of the nares Abnormal hand morphology Microcephaly Wide nose Abnormality of the dentition Small for gestational age Platyspondyly Recurrent fractures Premature birth Convex nasal ridge Coarctation of aorta Blue sclerae Thin skin Bowing of the long bones Large fontanelles Wormian bones Disproportionate short-limb short stature Small hand Stroke Increased susceptibility to fractures High forehead Mitral regurgitation Reduced ejection fraction Generalized hypotonia Micrognathia Muscular hypotonia High palate Feeding difficulties Epicanthus Hepatomegaly Downslanted palpebral fissures Ventricular septal defect Atrial septal defect Areflexia Broad forehead Deeply set eye Severe global developmental delay Pulmonic stenosis Round face Prominent nose Decreased fetal movement Secundum atrial septal defect Perimembranous ventricular septal defect Right aortic arch Generalized neonatal hypotonia Short stature Abnormal facial shape Long philtrum Retrognathia Abnormality of pelvic girdle bone morphology Metaphyseal widening Short fourth metatarsal Nystagmus External ophthalmoplegia Ragged-red muscle fibers Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Hyperglycemia Vestibular dysfunction Macular dystrophy Progressive sensorineural hearing impairment Glomerulopathy Retinal atrophy Abnormality of lipid metabolism Left bundle branch block Abnormal chorioretinal morphology Wide nasal bridge Type II diabetes mellitus Hyporeflexia Neonatal hypotonia Renal cyst Sensory impairment Cardiomegaly Leukodystrophy Progressive hearing impairment Bilateral ptosis Epiphyseal dysplasia Increased CSF protein Multiple epiphyseal dysplasia Miosis Abnormal renal physiology Pancytopenia Bilateral sensorineural hearing impairment Tibial bowing Autistic behavior Nonimmune hydrops fetalis Pulmonary insufficiency Lens luxation Multiple prenatal fractures Broad long bones Abnormality of calvarial morphology Beaded ribs Crumpled long bones Absent ossification of calvaria Growth delay Visual loss Autism Skeletal dysplasia Progressive visual loss Unsteady gait Rhizomelia Hammertoe Distal lower limb amyotrophy Short 5th metacarpal Calcific stippling Polyneuritis Visual impairment Dysarthria Optic atrophy Renal insufficiency Abnormality of the kidney Ophthalmoplegia Malabsorption Iridescent posterior subcapsular cataract



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