Congestive heart failure, and Blindness

Diseases related with Congestive heart failure and Blindness

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium 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

Medium 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

Medium 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

Medium match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Medium match KEARNS-SAYRE SYNDROME


Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

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

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Retinopathy Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arrhythmia Seizures Cognitive impairment Flexion contracture Generalized hypotonia Neonatal hypotonia Hearing impairment Myopathy Nyctalopia Vomiting Motor delay Ptosis Nystagmus Scoliosis Rod-cone dystrophy Hypogonadism Polyneuropathy Dilatation Peripheral neuropathy Hypertension Sensorineural hearing impairment Growth delay Visual impairment Hypothyroidism Pigmentary retinopathy Hyporeflexia Ventricular arrhythmia Dilated cardiomyopathy Dysphagia Muscular hypotonia Ophthalmoplegia Limb muscle weakness Visual loss Reduced visual acuity

Rare Symptoms - Less than 30% cases


Nephrocalcinosis Scarring Adrenocorticotropin deficient adrenal insufficiency Delayed speech and language development Edema Cardiomegaly Myopia Acne Leukodystrophy Bilateral ptosis Increased CSF protein Adrenal insufficiency Depressed nasal bridge Hyperactivity Ragged-red muscle fibers Tall stature Joint hyperflexibility Lactic acidosis Bruising susceptibility Dementia Proximal muscle weakness Hyperlordosis Elevated serum creatine phosphokinase Respiratory tract infection Diarrhea Respiratory insufficiency Skeletal muscle atrophy Pain Muscular dystrophy Exercise intolerance Short stature Microcephaly Optic atrophy Myoclonus Leukoencephalopathy Acidosis Hemiplegia/hemiparesis Intracranial hemorrhage Growth hormone excess Hyperextensible skin Generalized muscle weakness Mitral regurgitation Blue sclerae Mitral valve prolapse Cerebral calcification External ophthalmoplegia Gastrointestinal hemorrhage Sudden cardiac death Prolactin excess Respiratory failure Hyperthyroidism Intellectual disability Goiter Gynecomastia Fatigue Vertigo Infertility Ophthalmoparesis Cataract Hypokalemia Osteopenia Pes cavus Ichthyosis Progressive visual loss Sensorimotor neuropathy Anosmia Elevated levels of phytanic acid Easy fatigability Osteoporosis Macular degeneration Hyperreflexia Cerebral atrophy Babinski sign Sensory impairment Failure to thrive Paraganglioma Tetraplegia Bladder diverticulum Subcutaneous hemorrhage Distal muscle weakness Arterial rupture Developmental regression Hypertrophic cardiomyopathy Attention deficit hyperactivity disorder Generalized myoclonic seizures Lens luxation Thoracic kyphoscoliosis Absent speech Dystonia Hypertonia Keloids Spasticity Generalized joint laxity Increased serum lactate Ketonuria Aortic root aneurysm Preeclampsia Ketosis Rhabdomyolysis Oral-pharyngeal dysphagia Abnormality of the hip bone Slender finger Keratoconus Soft skin Aortic dissection Abnormality of the eye Spontaneous rupture of the globe Atypical scarring of skin Congenital hip dislocation Left ventricular noncompaction Molluscoid pseudotumors Atrophic scars Spastic tetraplegia Dural ectasia Absent muscle dystrophin expression Falls Congenital muscular dystrophy Exertional dyspnea Difficulty climbing stairs Cough Abnormality of color vision Premature rupture of membranes Calf muscle hypertrophy Toe walking Myotonia Gowers sign Hypoventilation Limb-girdle muscular dystrophy Palmoplantar cutis laxa Progressive muscle weakness Specific learning disability Waddling gait Chest pain Macroglossia Distal amyotrophy Difficulty running Abnormal EKG Red-green dyschromatopsia Wrist drop Nocturnal hypoventilation Hemiatrophy Proximal lower limb amyotrophy Calf muscle pseudohypertrophy Muscle fiber necrosis Gastroparesis Decreased pulmonary function Moderate myopia Arterial dissection Myoglobinuria Proximal muscle weakness in lower limbs Intestinal pseudo-obstruction Gastrointestinal dysmotility Breech presentation Congenital stationary night blindness Shoulder girdle muscle weakness Limb-girdle muscle weakness Chromosome breakage Male pseudohermaphroditism Shoulder girdle muscle atrophy Heart murmur Hemolytic-uremic syndrome Increased body weight Pectus excavatum Hernia Abnormality of metabolism/homeostasis Kyphosis Respiratory distress Talipes equinovarus Recurrent pneumonia Gait disturbance Epicanthus Hyperbilirubinemia Prominent forehead Low-set ears Joint dislocation Cryptorchidism Low CSF 5-methyltetrahydrofolate Spina bifida occulta Progressive intervertebral space narrowing Second degree atrioventricular block Third degree atrioventricular block Folate deficiency Renal Fanconi syndrome Inguinal hernia Glaucoma Sideroblastic anemia Abnormal bleeding Insulin resistance Spina bifida Dental crowding Thin skin High myopia Decreased fetal movement Oligohydramnios Overgrowth Esotropia Sepsis Microcornea Kyphoscoliosis Single transverse palmar crease Retinal detachment Joint hypermobility Unsteady gait Arachnodactyly Talipes Dolichocephaly Pectus carinatum Joint laxity Pes planus First degree atrioventricular block Torticollis Disproportionate tall stature Severe short stature Abnormality of retinal pigmentation Left ventricular hypertrophy Ventricular hypertrophy Memory impairment Growth hormone deficiency Syncope Muscle cramps Sensory neuropathy Paralysis Diabetes mellitus Cerebellar hypoplasia Reduced tendon reflexes Delayed skeletal maturation Encephalopathy Depressivity Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Decreased activity of mitochondrial complex II Progressive leukoencephalopathy Joint contracture of the hand Increased intramyocellular lipid droplets EMG abnormality Atrioventricular block Muscle fiber atrophy Mitochondrial myopathy Titubation EEG abnormality Anterior hypopituitarism Stroke-like episode Gait imbalance Severe lactic acidosis Hypomagnesemia Hyperaldosteronism Aortic regurgitation Heart block Hypoparathyroidism Incoordination Corneal dystrophy Progressive external ophthalmoplegia Exocrine pancreatic insufficiency Primary adrenal insufficiency Renal tubular acidosis Basal ganglia calcification Bundle branch block Abnormality of mitochondrial metabolism Aortic aneurysm Nasal speech Abnormality of the mitochondrion Redundant neck skin Dyspnea Abnormal visual field test Epiphyseal stippling Epiphyseal dysplasia Progressive hearing impairment Renal cyst Retinal degeneration Wide nasal bridge Thyroid crisis Heteronymous hemianopia Abnormality of hair density Internal ophthalmoplegia Miosis Fourth cranial nerve palsy Enlarged pituitary gland Cranial nerve VI palsy Euthyroid hyperthyroxinemia Abnormality of the pituitary gland Periodic hypokalemic paresis Erectile abnormalities Bitemporal hemianopia Decreased fertility in males Female hypogonadism Multiple epiphyseal dysplasia Abnormal renal physiology Increased thyroid-stimulating hormone level Nephrolithiasis Hyperostosis Rickets Hypercalcemia Precocious puberty Elevated alkaline phosphatase Hypercalciuria Neoplasm of the skin Aspiration Decreased liver function Cafe-au-lait spot Primary amenorrhea Short fourth metatarsal Amenorrhea Nevus Abdominal distention Hirsutism Facial asymmetry Synophrys Autoimmunity Abnormal facial shape Neoplasm Hyperoxaluria Central adrenal insufficiency Decreased circulating ACTH level Neurofibromas Hemeralopia Calcific stippling Short 5th metacarpal Distal lower limb amyotrophy Hammertoe Rhizomelia Congenital cataract Autistic behavior Skeletal dysplasia Autism Abnormal fundus morphology Restless legs Tremor Orofacial dyskinesia Dysdiadochokinesis Cone/cone-rod dystrophy Psychosis Dysmetria Mental deterioration Photophobia Cerebellar atrophy Dysarthria Feeding difficulties Polyneuritis Headache Sudden loss of visual acuity Increased circulating gonadotropin level Decreased female libido Decreased fertility in females Secondary growth hormone deficiency Oculomotor nerve palsy Abnormality of the menstrual cycle Supraventricular arrhythmia Hemianopia Menstrual irregularities Adrenocorticotropic hormone deficiency Male hypogonadism Pericardial effusion Hyperhidrosis Impotence Cranial nerve paralysis Hypogonadotrophic hypogonadism Diplopia Palpitations Hypotension Delayed puberty Nausea and vomiting Pallor Weight loss Hypophosphatemia Pathologic fracture Recurrent respiratory infections Pulmonary edema Intermittent claudication Retinal hemorrhage Abnormal endocardium morphology Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Excessive wrinkled skin Arteriosclerosis Arterial stenosis Abnormal mitral valve morphology Metamorphopsia Abnormal thrombocyte morphology Restrictive cardiomyopathy Lack of skin elasticity Angina pectoris Peripheral arterial stenosis Abnormality of the cerebral vasculature Mitral stenosis Drusen Thickened nuchal skin fold Abnormality of the mouth Angioid streaks of the fundus Renovascular hypertension Severe vision loss Subretinal fluid Pneumonia Constipation Intellectual disability, mild Behavioral abnormality Intellectual disability, severe Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Erythematous papule Peau d'orange Abnormality of connective tissue Peripapillary chorioretinal atrophy Medial calcification of large arteries Generalized arterial calcification Localized skin lesion Hyperkeratotic papule Arterial calcification Subcutaneous calcification Vascular calcification Accelerated atherosclerosis Civatte bodies Severe intrauterine growth retardation Striae distensae Abnormality of the thyroid gland Pseudohypoparathyroidism High palate Monostotic fibrous dysplasia Large cafe-au-lait macules with irregular margins Precocious puberty in females Polyostotic fibrous dysplasia Thyroid nodule Axillary freckling Myelofibrosis Multinodular goiter Hamartomatous polyposis Ovarian cyst Renal insufficiency Craniofacial hyperostosis Intestinal polyposis Pituitary hypothyroidism Osteosarcoma Pituitary adenoma Increased circulating cortisol level Syringomyelia Osteomalacia Hyperparathyroidism Freckling Intrauterine growth retardation Abnormality of cardiovascular system morphology Telangiectasia of the skin Cutis laxa Multiple lipomas Chorioretinal atrophy Abnormal retinal morphology Hypermelanotic macule Coronary artery atherosclerosis Cutis marmorata Tricuspid regurgitation Abnormality of the thorax Redundant skin Ischemic stroke Atherosclerosis Skin rash Subcutaneous nodule Myocardial infarction Abnormality of the cardiovascular system Abnormality of the skin Postural instability Abnormality of skin pigmentation Pruritus Papule Small for gestational age Stroke Progressive congenital scoliosis



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