Congestive heart failure, and Reduced visual acuity

Diseases related with Congestive heart failure and Reduced visual acuity

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


Top matches:

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23


Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Low match SPINOCEREBELLAR ATAXIA TYPE 7


Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Low match HEREDITARY HEMORRHAGIC TELANGIECTASIA


Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

HEREDITARY HEMORRHAGIC TELANGIECTASIA Is also known as hht|rendu-osler disease|rendu-osler-weber disease

Related symptoms:

  • Seizures
  • Congestive heart failure
  • Cirrhosis
  • Hepatic failure
  • Hematuria


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HEMORRHAGIC TELANGIECTASIA

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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 GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Low match TSH-SECRETING PITUITARY ADENOMA


A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.

TSH-SECRETING PITUITARY ADENOMA Is also known as thyrotroph adenoma|pituitary thyrotrophic adenoma|thyroid stimulating hormone-secreting pituitary adenoma|tsh-oma

Related symptoms:

  • Seizures
  • Ptosis
  • Hypertension
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about TSH-SECRETING PITUITARY ADENOMA

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 MCCUNE-ALBRIGHT SYNDROME; MAS


Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

Low match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Low match DUCHENNE MUSCULAR DYSTROPHY


Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Reduced visual acuity

Symptoms // Phenotype % cases
Blindness Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Visual loss Hypertension Intellectual disability Cognitive impairment Muscle weakness Ventricular arrhythmia Hearing impairment Hyperactivity Vomiting Limb muscle weakness Scarring Progressive visual loss Nyctalopia Ataxia Retinopathy Pes cavus Visual impairment

Rare Symptoms - Less than 30% cases


Ichthyosis Skeletal muscle atrophy Sensorineural hearing impairment Cataract Elevated serum creatine phosphokinase Myopathy Respiratory insufficiency Fatigue Peripheral neuropathy Flexion contracture Myopia Polyneuropathy Rod-cone dystrophy Pain Elevated levels of phytanic acid Anosmia Sensorimotor neuropathy Proximal muscle weakness Decreased liver function Abnormality of the eye Hypokalemia Acne Hypothyroidism Hyporeflexia Delayed speech and language development Scoliosis Dilatation Sudden cardiac death Prolactin excess Growth hormone excess Hyperthyroidism Goiter Dilated cardiomyopathy Gynecomastia Infertility Hypogonadism Ptosis Abnormal retinal morphology Exercise intolerance Palpitations Nephrocalcinosis Pigmentary retinopathy Chest pain Distal amyotrophy Growth delay Cardiomegaly Cone/cone-rod dystrophy Telangiectasia of the skin Macular degeneration Psychosis Sensory impairment Hypertrophic cardiomyopathy Gastrointestinal hemorrhage Mental deterioration Nephrolithiasis Intrauterine growth retardation Nystagmus Neonatal hypotonia Motor delay Feeding difficulties Abnormality of the cerebral vasculature Intestinal polyposis Generalized hypotonia Cerebral atrophy Joint hyperflexibility Abnormality of skin pigmentation Chorioretinal atrophy Bruising susceptibility Postural instability Proximal lower limb amyotrophy Cutis marmorata Abnormality of the skin Cerebral calcification Coronary artery atherosclerosis Abnormality of the cardiovascular system Mitral valve prolapse Blue sclerae Multiple lipomas Hypermelanotic macule Mitral regurgitation Myocardial infarction Proximal muscle weakness in lower limbs Abnormality of the thorax Intracranial hemorrhage Shoulder girdle muscle atrophy Redundant skin Hyperextensible skin Gastroparesis Ischemic stroke Tricuspid regurgitation Muscle fiber necrosis Cutis laxa Atherosclerosis Pruritus Calf muscle pseudohypertrophy Subcutaneous nodule Hemiplegia/hemiparesis Respiratory tract infection Abnormality of cardiovascular system morphology Papule Pathologic fracture Osteosarcoma Pituitary adenoma Increased circulating cortisol level Syringomyelia Osteomalacia Hyperparathyroidism Freckling Abnormality of the thyroid gland Neurofibromas Craniofacial hyperostosis Hypophosphatemia Adrenal insufficiency Hyperostosis Rickets Hypercalcemia Precocious puberty Elevated alkaline phosphatase Hypercalciuria Pituitary hypothyroidism Ovarian cyst Small for gestational age Monostotic fibrous dysplasia Stroke Skin rash Severe vision loss Hemiatrophy Nocturnal hypoventilation Renal insufficiency Edema High palate Large cafe-au-lait macules with irregular margins Pseudohypoparathyroidism Precocious puberty in females Polyostotic fibrous dysplasia Thyroid nodule Axillary freckling Red-green dyschromatopsia Myelofibrosis Multinodular goiter Hamartomatous polyposis Striae distensae Drusen Intestinal pseudo-obstruction Erythematous papule Muscular hypotonia Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Myotonia Toe walking Calf muscle hypertrophy Gowers sign Abnormality of color vision Subretinal fluid Difficulty climbing stairs Peau d'orange Exertional dyspnea Peripapillary chorioretinal atrophy Difficulty running Hypoventilation Congenital muscular dystrophy Intellectual disability, severe Myoglobinuria Muscular dystrophy EEG abnormality Dyspnea Respiratory failure Recurrent respiratory infections Pneumonia Distal muscle weakness Attention deficit hyperactivity disorder Cough Falls Limb-girdle muscular dystrophy Macroglossia Constipation Intellectual disability, mild Behavioral abnormality Waddling gait Specific learning disability Diarrhea Progressive muscle weakness Abnormal EKG Medial calcification of large arteries Severe intrauterine growth retardation Redundant neck skin Pulmonary insufficiency Excessive wrinkled skin Arteriosclerosis Arterial stenosis Pulmonary edema Abnormal mitral valve morphology Abnormal thrombocyte morphology Restrictive cardiomyopathy Choroidal neovascularization Lack of skin elasticity Angina pectoris Peripheral arterial stenosis Mitral stenosis Hyperlordosis Thickened nuchal skin fold Abnormality of the mouth Gastrointestinal dysmotility Ectopic calcification Abnormal endocardium morphology Male pseudohermaphroditism Subcutaneous calcification Chromosome breakage Limb-girdle muscle weakness Shoulder girdle muscle weakness Generalized arterial calcification Localized skin lesion Hyperkeratotic papule Arterial calcification Congenital stationary night blindness Breech presentation Retinal hemorrhage Vascular calcification Accelerated atherosclerosis Civatte bodies Abnormality of connective tissue Renovascular hypertension Metamorphopsia Angioid streaks of the fundus Intermittent claudication Neoplasm of the skin Periodic hypokalemic paresis Aspiration Distal lower limb amyotrophy Depressivity Respiratory distress Gait disturbance Hepatomegaly Polyneuritis Calcific stippling Short 5th metacarpal Hammertoe Distal sensory impairment Rhizomelia Congenital cataract Autistic behavior Skeletal dysplasia Autism Retinal telangiectasia Mucosal telangiectasiae Peripheral arteriovenous fistula Abnormality of the liver Ventricular hypertrophy Spontaneous hematomas Generalized amyotrophy Myofibrillar myopathy Myocardial fibrosis Wolff-Parkinson-White syndrome Reduced ejection fraction Abnormality of the gastrointestinal tract Cardiorespiratory arrest Hypokinesia Neurodevelopmental delay Atrial fibrillation Back pain Abnormal electroretinogram EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Ventricular tachycardia Hyperlipidemia Cardiac arrest Left ventricular hypertrophy Abnormality of cardiovascular system physiology Cholecystitis Autophagic vacuoles Babinski sign Restless legs Orofacial dyskinesia Ophthalmoparesis Dysdiadochokinesis Dysmetria Ophthalmoplegia Photophobia Cerebellar atrophy Abnormal fundus morphology Dysphagia Dysarthria Hyperreflexia Failure to thrive Increased serum lactate Lactic acidosis Feeding difficulties in infancy Acidosis Hemeralopia Cirrhosis Conjunctival telangiectasia Microcytic anemia Cavernous hemangioma Visceral angiomatosis Esophageal varix Arteriovenous malformation Transient ischemic attack Subarachnoid hemorrhage Pulmonary embolism Hemoptysis Cerebral hemorrhage Hepatic failure Portal hypertension Cholelithiasis Venous thrombosis Amblyopia Pulmonary arterial hypertension Epistaxis Migraine Hematuria Skeletal myopathy Muscle flaccidity Cafe-au-lait spot Abnormal visual field test Leukodystrophy Renal cyst Retinal degeneration Wide nasal bridge Thyroid crisis Heteronymous hemianopia Abnormality of hair density Internal ophthalmoplegia Bilateral ptosis Fourth cranial nerve palsy Enlarged pituitary gland Cranial nerve VI palsy Euthyroid hyperthyroxinemia Abnormality of the pituitary gland Erectile abnormalities Bitemporal hemianopia Decreased fertility in males Progressive hearing impairment Epiphyseal dysplasia Female hypogonadism Autoimmunity Tall stature Primary amenorrhea Amenorrhea Nevus Abdominal distention Hirsutism Facial asymmetry Synophrys Depressed nasal bridge Epiphyseal stippling Abnormal facial shape Neoplasm Hyperoxaluria Short fourth metatarsal Abnormal renal physiology Miosis Multiple epiphyseal dysplasia Increased CSF protein Adrenocorticotropin deficient adrenal insufficiency Central adrenal insufficiency Retinal pigment epithelial mottling Tremor Nausea and vomiting Pallor Osteopenia Weight loss Hyperhidrosis Osteoporosis Headache Glycogen accumulation in muscle fiber lysosomes Vertigo Increased cerebral lipofuscin Suicidal ideation Macular hypopigmentation Left ventricular systolic dysfunction Myocardial necrosis Ventricular preexcitation Impaired myocardial contractility Exercise-induced muscle cramps Delayed puberty Hypotension Increased thyroid-stimulating hormone level Hemianopia Decreased circulating ACTH level Sudden loss of visual acuity Decreased female libido Decreased fertility in females Secondary growth hormone deficiency Oculomotor nerve palsy Abnormality of the menstrual cycle Supraventricular arrhythmia Menstrual irregularities Diplopia Adrenocorticotropic hormone deficiency Male hypogonadism Increased circulating gonadotropin level Pericardial effusion Impotence Easy fatigability Cranial nerve paralysis Hypogonadotrophic hypogonadism Absent muscle dystrophin expression



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