Congestive heart failure, and Cerebral cortical atrophy

Diseases related with Congestive heart failure and Cerebral cortical atrophy

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


Top matches:

Medium match INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome|msp1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with paget disease of bone|limb-girdle muscular dystrophy with paget disease of bone|ibmpfd|lower motor neuron degener

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Cataract
  • Skeletal muscle atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

Medium match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Medium match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Medium match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Medium match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Medium 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

Medium match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

Medium match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Top 5 symptoms//phenotypes associated to Congestive heart failure and Cerebral cortical atrophy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cataract

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Cardiomyopathy Low-set ears Growth delay Scoliosis Spasticity Muscle weakness Ataxia Gait disturbance Failure to thrive Microretrognathia Hearing impairment Arrhythmia Nystagmus Visual impairment Talipes equinovarus Pes planus Flexion contracture Cryptorchidism Ventriculomegaly Abnormal facial shape Pulmonary arterial hypertension Microcephaly Dementia Cognitive impairment Micrognathia Hydrocephalus Respiratory insufficiency Midface retrusion

Rare Symptoms - Less than 30% cases


Aciduria Intellectual disability, moderate Camptodactyly of finger Short philtrum Flat face Metatarsus adductus Neutropenia Microphthalmia Intention tremor Umbilical hernia Posteriorly rotated ears Encephalitis Ventricular septal defect Low posterior hairline Hypertrophic cardiomyopathy Inguinal hernia Acidosis Hypertension Esotropia Overlapping fingers Long face Smooth philtrum Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Hepatomegaly Peripheral neuropathy Wide nasal bridge Tremor Anteverted nares Cerebellar atrophy Long philtrum Encephalopathy Muscular hypotonia of the trunk Abnormality of the skeletal system High palate Optic atrophy Abnormality of skin pigmentation Slurred speech Thoracic scoliosis Congenital cataract Hip dislocation Feeding difficulties in infancy Intellectual disability, severe Strabismus Blue sclerae Depressed nasal bridge Bilateral talipes equinovarus Sacral dimple Postnatal microcephaly Abnormal toenail morphology Renal insufficiency Alopecia Hyperkeratosis Left ventricular hypertrophy Motor delay Ichthyosis Difficulty walking Respiratory distress Short metacarpal Depressivity Hyperactivity Reduced visual acuity Kyphoscoliosis Cleft palate Abnormal pyramidal sign Downslanted palpebral fissures Dilated cardiomyopathy Abnormality of the foot Lower limb muscle weakness Talipes Unsteady gait Pectus carinatum Joint laxity Brachycephaly Peripheral axonal neuropathy Gait ataxia Amyotrophic lateral sclerosis Babinski sign Hyperlordosis Limb muscle weakness Dilatation Urinary bladder sphincter dysfunction Elevated serum creatine phosphokinase Dystonia Respiratory failure Apathy Neuronal loss in central nervous system Hepatic steatosis Chorea Frontotemporal dementia Sensory axonal neuropathy Semantic dementia Aggressive behavior Cerebral atrophy Prominent antitragus Osteolysis Lumbar hyperlordosis Dysphagia Skeletal muscle atrophy Dysarthria Absent hand Supernumerary ribs Weight loss Asymmetric growth Thrombocytopenia Retinal hemorrhage Anemia Abnormal chorioretinal morphology Feeding difficulties Ridged fingernail Retinal vascular proliferation Broad nail 11 pairs of ribs Small face Macrotia Generalized osteoporosis Abnormal hand morphology High forehead Osteopathia striata Arthritis Metabolic acidosis Atherosclerosis Abnormality of retinal pigmentation Anorexia Recurrent urinary tract infections Broad-based gait Psychosis Pancytopenia Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Urinary incontinence Hematuria Proteinuria Nephropathy Hemolytic anemia Joint hypermobility Retinal degeneration Paresthesia Confusion Malabsorption Lethargy Endocardial fibroelastosis Retinopathy Mental deterioration Deep palmar crease Hearing abnormality Deviation of finger Hyperhidrosis Shoulder dislocation Oral cleft Hypertropia Accessory carpal bones Corneal opacity Enlarged metaphyses Finger syndactyly Spatulate thumbs Attention deficit hyperactivity disorder Skin rash Erythema Olivopontocerebellar hypoplasia Delayed eruption of teeth Hypoplastic aortic arch Broad distal phalanges of all fingers Spotty hypopigmentation Long neck Metacarpophalangeal joint hyperextensibility Otosclerosis Narrow nose Epiphyseal stippling Long fingers Broad hallux Ectopic kidney Overlapping toe Retinal detachment Hypodontia Cerebral ischemia Supernumerary nipple Verrucae Hypoplastic fingernail Dystrophic toenail Abnormality of the abdominal wall Lumbar scoliosis Ectopia lentis Uveitis Irregular hyperpigmentation Abnormality of immune system physiology Knee dislocation Telangiectasia of the skin Hemiplegia/hemiparesis Abnormal blistering of the skin Keratitis Abnormality of dental morphology Eosinophilia Talipes equinovalgus Hypopigmented skin patches Spina bifida occulta Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Abnormality of the hair Skin ulcer Multiple joint dislocation Hemiplegia Methylmalonic aciduria Disproportionate tall stature Cardiac arrest Thick eyebrow Bilateral cryptorchidism Epiphyseal dysplasia Recurrent fractures Webbed neck Abnormality of the hand Abnormal dermatoglyphics Intellectual disability, progressive Microdontia Knee flexion contracture Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Clonus Spastic diplegia Short toe Short phalanx of finger Mitral valve prolapse Congenital diaphragmatic hernia Cardiomegaly Mitral regurgitation Hypotelorism Abnormal lung morphology Amblyopia Growth hormone deficiency Rhizomelia Lymphedema Arachnodactyly Genu valgum Elbow flexion contracture Osteoporosis Prominent nipples Slender ulna Hypertelorism Fever Frontal bossing Short neck Abnormality of the distal phalanx of finger Hernia Abnormal heart morphology Delayed skeletal maturation Prominent forehead Talipes valgus Glaucoma Prematurely aged appearance Narrow mouth Proptosis Furrowed tongue Osteopenia Misalignment of teeth Microtia Hypermetropia Abnormality of the antihelix Tracheomalacia Narrow chest Pulmonic stenosis Ulnar deviation of finger Meningitis Broad nasal tip Thromboembolism Delirium Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Upper limb undergrowth Urogenital fistula Abnormality of macular pigmentation Aortic root aneurysm Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Abnormally large globe Homocystinuria Broad fingertip Cor pulmonale Megaloblastic anemia Thyroglossal cyst Narrow nasal bridge Hypoplasia of the maxilla Polymicrogyria Microcornea Polyneuropathy Joint dislocation Self-injurious behavior Accelerated skeletal maturation Sandal gap Cutis laxa Bicuspid aortic valve Everted lower lip vermilion Hyperextensible skin Patent foramen ovale Short palm Radioulnar synostosis Epicanthus Spondyloepiphyseal dysplasia Severe global developmental delay Thoracic hypoplasia Congenital glaucoma Postnatal growth retardation Micropenis Restrictive ventilatory defect Hypogonadism Severe short stature Recurrent respiratory infections Hyporeflexia Pectus excavatum Malar flattening 2-3 toe syndactyly Sparse eyelashes Overfolded helix Wide mouth Moderate global developmental delay Abnormal aortic valve morphology Flat occiput Hyperammonemia Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Interphalangeal joint contracture of finger Oligohydramnios Increased serum lactate Premature birth Lactic acidosis Small for gestational age Abnormality of the kidney Hyperalaninemia Neonatal hypotonia Retrognathia Hypospadias Intrauterine growth retardation Weakness of muscles of respiration Abnormal motor neuron morphology Ubiquitin-positive cerebral inclusion bodies Temporal cortical atrophy Pelvic girdle amyotrophy Abnormality of long bone morphology Scapuloperoneal weakness Elevated alkaline phosphatase of bone origin Frontal cortical atrophy 3-Methylglutaconic aciduria Gastroparesis Cranial nerve compression Falls Palpitations Atrial fibrillation Ventricular hypertrophy Optic disc pallor Peripheral demyelination Sensory impairment Chest pain Progressive cerebellar ataxia Abnormal cerebellum morphology Neurodegeneration Sensory neuropathy Inability to walk Tachycardia Abnormal pulmonary valve morphology Vertigo Dysmetria Abnormality of movement Abnormality of eye movement Pallor Diabetes mellitus Pes cavus Areflexia Visual loss Kyphosis Fatigue Ptosis Pain Pelvic girdle muscle atrophy Calvarial hyperostosis Involuntary movements Perseveration Fasciculations Progressive muscle weakness Tetraparesis Waddling gait Brain atrophy Distal amyotrophy Muscular dystrophy Distal muscle weakness Facial palsy Proximal muscle weakness Myopathy Bulimia Primitive reflex EMG: myopathic abnormalities Disinhibition Pulmonary edema Supranuclear gaze palsy Abnormal lower motor neuron morphology Insomnia Global brain atrophy Agitation Emotional lability Personality changes Respiratory insufficiency due to muscle weakness Stereotypy Rigidity Edema Scapular winging Mutism Motor neuron atrophy Rimmed vacuoles Fatty replacement of skeletal muscle Dyscalculia Abnormality of calvarial morphology EMG: chronic denervation signs Shoulder girdle muscle atrophy Hip pain Pelvic girdle muscle weakness Upper motor neuron dysfunction Shoulder girdle muscle weakness Motor axonal neuropathy EMG: neuropathic changes Progressive proximal muscle weakness Abnormality of the vertebral column Abnormality of pelvic girdle bone morphology Pathologic fracture Difficulty climbing stairs Generalized amyotrophy Dysphasia Aphasia Alzheimer disease Increased variability in muscle fiber diameter Spinal muscular atrophy Language impairment Limb-girdle muscular dystrophy Back pain Increased susceptibility to fractures Elevated alkaline phosphatase Clumsiness Lower limb spasticity Narrow palpebral fissure Sparse and thin eyebrow Lipoatrophy Neurodevelopmental delay Abnormality of coagulation Hyperglycemia Ventricular fibrillation Erythroderma Ventricular tachycardia Leukopenia Severe muscular hypotonia Recurrent pneumonia Aspiration Bradycardia Thin skin Epileptic spasms Inflammatory abnormality of the skin Hypsarrhythmia Cyanosis Abnormal bleeding Tetraplegia Dry skin Apnea Myalgia Elevated hepatic transaminase Hypoglycemia Absent speech Splenomegaly Atrophic superior cerebellar peduncle Microcytic anemia Myocarditis Structural foot deformity Skeletal dysplasia Aortic valve stenosis Narrow forehead Dandy-Walker malformation Wide intermamillary distance Hypopigmentation of the skin Single transverse palmar crease Thick vermilion border Wide nose Bulbous nose Toe syndactyly Prominent nasal bridge Deeply set eye Polyhydramnios Hypoketotic hypoglycemia Polydactyly Agenesis of corpus callosum Syndactyly Hypertonia Hypoplasia of the corpus callosum Brachydactyly Aplasia of the fingers Adactyly Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Type I transferrin isoform profile Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Impaired visually enhanced vestibulo-ocular reflex Abolished vibration sense Limb ataxia Glucose intolerance Hyposmia Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Ketoacidosis Ketosis Heart block Abnormality of visual evoked potentials Abnormal EKG Optic neuropathy Hyperactive deep tendon reflexes Visual field defect Decreased motor nerve conduction velocity Gait imbalance Hammertoe Impaired vibratory sensation Dysdiadochokinesis Cachexia Incoordination Ventricular arrhythmia Reduced tendon reflexes Spastic paraparesis Paraparesis Muscle stiffness Truncal ataxia Insulin resistance Spastic gait Spinocerebellar tract degeneration Impaired proprioception Spinal cord posterior columns myelin loss Cerebellar cortical atrophy Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Concentric hypertrophic cardiomyopathy Asymmetric septal hypertrophy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Bilateral elbow dislocations



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Mental deterioration, related diseases and genetic alterations Neuroblastoma and Ichthyosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more