Congestive heart failure, and Retinal degeneration

Diseases related with Congestive heart failure and Retinal degeneration

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


Top matches:

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 ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

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

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Other less relevant matches:

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 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

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 GLYCOGEN STORAGE DISEASE II; GSD2


Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Low match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Top 5 symptoms//phenotypes associated to Congestive heart failure and Retinal degeneration

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Seizures Cataract Growth delay Global developmental delay Sensorineural hearing impairment Macular degeneration Retinopathy Arrhythmia Visual impairment Diabetes mellitus Atherosclerosis Paresthesia Blindness Scoliosis Short stature Muscular hypotonia Pain Intellectual disability Anemia Visual loss Difficulty walking Ptosis Type II diabetes mellitus Pigmentary retinopathy Dysarthria Stroke Pancytopenia Reduced visual acuity Feeding difficulties Renal insufficiency Failure to thrive Generalized hypotonia

Rare Symptoms - Less than 30% cases


Progressive sensorineural hearing impairment Skeletal muscle atrophy Peripheral neuropathy Rod-cone dystrophy Limb muscle weakness Polyneuropathy Abnormal retinal morphology Unsteady gait Vestibular dysfunction Hyperglycemia Bilateral sensorineural hearing impairment Telangiectasia of the skin Subcutaneous calcification Abnormality of the cerebral vasculature Peripheral arterial stenosis Malabsorption Lack of skin elasticity Cardiomegaly Lethargy Microcephaly Myopia Myocardial infarction Abnormality of the cardiovascular system Acidosis Abnormality of skin pigmentation Dilatation Urinary incontinence Myelopathy Nephropathy Hip dislocation Abnormality of retinal pigmentation Arthritis Gait disturbance Abnormality of the thorax Headache Megaloblastic anemia Secondary amenorrhea Myelodysplasia Proteinuria Hoarse voice Anorexia Abnormality of the skin Aciduria Neutropenia Respiratory insufficiency Hypoglycemia Gastroesophageal reflux Thrombocytopenia Hypertrophic cardiomyopathy Arteriosclerosis Myalgia Confusion Neonatal hypotonia Mental deterioration Ophthalmoplegia Sensory impairment Psychosis Type I diabetes mellitus Cone/cone-rod dystrophy Memory impairment Hypothyroidism Polyuria Gait ataxia Dementia Depressivity Behavioral abnormality Respiratory distress Fatigue Tremor Delayed speech and language development Cognitive impairment Slurred speech Abnormality of extrapyramidal motor function Optic atrophy Myopathy Dysphagia Dysphasia Retinal hemorrhage Wolff-Parkinson-White syndrome Intermittent claudication Progressive proximal muscle weakness Dilatation of the cerebral artery Difficulty running Exertional dyspnea Generalized arterial calcification Emphysema Stroke-like episode Nasal speech Angioid streaks of the fundus Metamorphopsia Atrioventricular block Delayed gross motor development Cystathioninemia Respiratory insufficiency due to muscle weakness Scapular winging Decreased methylcobalamin Pelvic girdle muscle weakness Abnormal endocardium morphology Osteoporosis Urogenital fistula Leukemia Joint stiffness Carcinoma Proptosis Micropenis Hyperkeratosis Hypogonadism Alopecia EMG abnormality Abnormality of the dentition Neoplasm Firm muscles Abnormal CNS myelination Shortened PR interval Abdominal wall muscle weakness Increased muscle fatiguability Diaphragmatic paralysis Choroidal neovascularization Renovascular hypertension Progressive muscle weakness Aspiration Medial calcification of small arteries Abnormality of metabolism/homeostasis Decreased methylmalonyl-CoA mutase activity Splenomegaly Arterial calcification Hyperkeratotic papule Vitamin B12 deficiency Fever Hepatomegaly Abnormal atrioventricular valve morphology Decreased methionine synthase activity Medial calcification of medium-sized arteries Hypomethioninemia Cystathioninuria Localized skin lesion Premature occlusive vascular stenosis Erythematous papule Subretinal fluid Peau d'orange Peripapillary chorioretinal atrophy Areflexia Elevated serum creatine phosphokinase Medial calcification of large arteries Hypopigmentation of the skin Diffuse hepatic steatosis Ventricular hypertrophy Peripheral demyelination Hyperhomocystinemia Macroglossia Generalized muscle weakness Decreased adenosylcobalamin Muscular dystrophy Abnormality of connective tissue Paralysis Recurrent respiratory infections Proximal muscle weakness Conductive hearing impairment EEG abnormality Osteopenia Civatte bodies Accelerated atherosclerosis Vascular calcification Dyspnea Respiratory failure Small hand Skin ulcer Coma Narrow nasal ridge Gastrointestinal carcinoma Neoplasm of the small intestine Poliosis Ectopia lentis Abnormal hair whorl Apathy Soft tissue sarcoma Chorioretinitis Cutaneous melanoma Enlarged joints Neoplasm of the oral cavity Thyroid carcinoma White forelock Slender build Abnormality of the testis Pili torti Chondrocalcinosis Osteosarcoma Renal neoplasm Meningioma Disproportionate tall stature Premature arteriosclerosis Hemiplegia Posterior subcapsular cataract High forehead Lower limb muscle weakness Long face Congenital cataract Joint hypermobility Hemolytic anemia Hematuria Hepatic steatosis Feeding difficulties in infancy Macrotia Weight loss Aplasia/Hypoplasia of the testes Metabolic acidosis Cerebral cortical atrophy Pulmonary arterial hypertension Intellectual disability, severe Broad-based gait Recurrent urinary tract infections Hydrocephalus Low-set ears Abnormal facial shape Acral lentiginous melanoma Progeroid facial appearance Pulmonary artery stenosis Chest pain Increased bone mineral density Abnormality of the voice Lipodystrophy Dermal atrophy Sarcoma Laryngomalacia Breast carcinoma Melanoma Spontaneous abortion Hypergonadotropic hypogonadism Narrow face Polydipsia Abnormality of the hair Chronic hemolytic anemia Smooth philtrum Insulin resistance Abnormality of macular pigmentation Decreased body weight Sparse scalp hair Decreased testicular size Delirium Convex nasal ridge Methylmalonic acidemia Rocker bottom foot Neoplasm of the lung Right ventricular failure Thromboembolism Alopecia of scalp Cor pulmonale Premature loss of teeth Ectopic calcification Methylmalonic aciduria Homocystinuria Gastritis Prematurely aged appearance Hemolytic-uremic syndrome Squamous cell carcinoma Ovarian neoplasm Myeloid leukemia Scleroderma Aplasia/Hypoplasia of the skin Lipoatrophy Decreased fertility Atrophy of the spinal cord Polyphagia Premature graying of hair High pitched voice Subcapsular cataract Scarring Pulmonary insufficiency Epiphyseal dysplasia Cryptorchidism Elevated levels of phytanic acid Hyperoxaluria Short fourth metatarsal Abnormal renal physiology Miosis Multiple epiphyseal dysplasia Increased CSF protein Epiphyseal stippling Bilateral ptosis Atrial septal defect Anosmia Progressive hearing impairment Sensorimotor neuropathy Leukodystrophy Renal cyst Ichthyosis Nyctalopia Pes cavus Hyporeflexia Wide nasal bridge Ventricular septal defect Diarrhea Left bundle branch block Sideroblastic anemia Malar flattening Kyphosis Short neck Talipes equinovarus Cleft palate Hypertelorism Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Abnormality of the basal ganglia Abnormal heart morphology Abdominal situs inversus Macrocytic anemia Polycystic ovaries Aminoaciduria Cardiac arrest Situs inversus totalis Amenorrhea Retinal dystrophy Abnormal cardiac septum morphology Pallor Abnormal chorioretinal morphology Abnormality of lipid metabolism Hernia Hemeralopia Parkinsonism Neurodegeneration Cirrhosis Poor speech Rigidity Dystonia Hypertonia Spasticity Abnormal fundus morphology Restless legs Involuntary movements Orofacial dyskinesia Ophthalmoparesis Dysdiadochokinesis Dysmetria Photophobia Babinski sign Cerebral atrophy Cerebellar atrophy Hyperreflexia Motor delay Chorea Torticollis Retinal atrophy Constipation Glomerulopathy Macular dystrophy Bundle branch block Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Ragged-red muscle fibers External ophthalmoplegia Vertigo Abnormality of the kidney Aceruloplasminemia Cerebral palsy Decreased serum iron Elevated hepatic iron concentration Decreased serum ceruloplasmin Refractory anemia Scanning speech Cogwheel rigidity Blepharospasm Increased serum ferritin Muscle fibrillation Hyperkinesis Midface retrusion Severe short stature Excessive wrinkled skin Sudden cardiac death Ischemic stroke Cutis laxa Nephrocalcinosis Subcutaneous nodule Mitral regurgitation Blue sclerae Mitral valve prolapse Cerebral calcification Gastrointestinal hemorrhage Postural instability Redundant skin Bruising susceptibility Joint hyperflexibility Pruritus Papule Small for gestational age Skin rash Abnormality of cardiovascular system morphology Edema Intrauterine growth retardation High palate Hyperextensible skin Intracranial hemorrhage Limitation of knee mobility Thickened nuchal skin fold Arterial stenosis Pulmonary edema Abnormal mitral valve morphology Abnormal thrombocyte morphology Redundant neck skin Restrictive cardiomyopathy Angina pectoris Mitral stenosis Drusen Abnormality of the mouth Acne Severe intrauterine growth retardation Severe vision loss Striae distensae Multiple lipomas Chorioretinal atrophy Hypermelanotic macule Coronary artery atherosclerosis Cutis marmorata Hemiplegia/hemiparesis Tricuspid regurgitation Delayed calcaneal ossification Neonatal short-trunk short stature Polydactyly Micromelia Osteoarthritis Lumbar hyperlordosis High myopia Limb undergrowth Waddling gait Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Flat face Genu valgum Abnormality of the metaphysis Narrow chest Platyspondyly Broad forehead Pectus carinatum Autoimmunity Respiratory tract infection Hyperlordosis Apnea Skeletal dysplasia Glaucoma Abnormal lung morphology Abnormal form of the vertebral bodies Sciatica Hypoplasia of the odontoid process Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Disproportionate short stature Abnormality of epiphysis morphology Restrictive ventilatory defect Short thorax Bowing of the legs Spondyloepiphyseal dysplasia Back pain Genu varum Growth abnormality Sleep apnea Coxa vara Rhizomelia Thyroglossal cyst



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