Congestive heart failure, and Glaucoma

Diseases related with Congestive heart failure and Glaucoma

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


Top matches:

Medium match PARKES WEBER SYNDROME


Related symptoms:

  • Congestive heart failure
  • Headache
  • Glaucoma
  • Abnormal bleeding
  • Hemiparesis


SOURCES: ORPHANET MENDELIAN

More info about PARKES WEBER SYNDROME

Medium match HISTIOCYTOID CARDIOMYOPATHY


Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

Medium match MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

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Other less relevant matches:

Medium match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY 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 SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Low match FIBRODYSPLASIA OSSIFICANS PROGRESSIVA


Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Low match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

Low match DIAMOND-BLACKFAN ANEMIA 1; DBA1


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Low match FRANK-TER HAAR SYNDROME


Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Hypertension Global developmental delay Micrognathia Respiratory distress Scoliosis Hypertelorism Congenital glaucoma Osteopenia Pain Talipes equinovarus Cardiomegaly Generalized hypotonia Kyphosis Ventricular septal defect Genu valgum Arrhythmia Headache Broad forehead Failure to thrive Muscular hypotonia Muscle weakness Myopia Respiratory failure

Rare Symptoms - Less than 30% cases


Nystagmus Intellectual disability, mild Thrombocytopenia Strabismus Respiratory insufficiency Fatigue Cataract Motor delay Back pain Tachypnea Abnormality of the skeletal system Skeletal dysplasia Waddling gait Limitation of joint mobility Retinal detachment Abnormal heart morphology Downslanted palpebral fissures Narrow chest High palate Hip dislocation Respiratory tract infection Hernia Dyspnea Osteoporosis Short neck Cleft palate Sensorineural hearing impairment Hearing impairment Osteolysis Delayed cranial suture closure Generalized muscle weakness Stroke Neoplasm Smooth philtrum Low-set ears Wolff-Parkinson-White syndrome Cardiac arrest Cardiomyopathy Atrial septal defect Hamartoma Agenesis of corpus callosum Vomiting Corneal opacity Hydrocephalus Microcephaly Skeletal myopathy Hemiparesis Clinodactyly of the 5th finger Decreased body weight Ptosis Nausea Subcutaneous nodule Short thumb Autistic behavior Skin rash Projection of scalp hair onto lateral cheek Achromatic retinal patches Carcinoma Subungual fibromas Rhabdomyoma Intellectual disability, moderate Connective tissue nevi Irritability Abnormality of the kidney Pulmonary lymphangiomyomatosis Chordoma Cardiac rhabdomyoma Cortical tubers CNS hypomyelination Hypothyroidism Leukemia Aplasia/Hypoplasia of the phalanges of the hallux Pancytopenia Coarctation of aorta Webbed neck Premature birth Neutropenia Cleft upper lip Nausea and vomiting Lethargy Abnormal cardiac septum morphology Autism Pallor Cleft lip Behavioral abnormality Renal insufficiency Retrognathia Dilatation Edema Attention deficit hyperactivity disorder Intrauterine growth retardation Hyperactivity Dental enamel pits Cough Polycystic kidney dysplasia Renal cell carcinoma Infantile spasms Nephroblastoma Aortic aneurysm Hypopigmentation of the skin Precocious puberty Renal cyst Hydrops fetalis Chest pain Gliosis Skin tags Nevus Brain atrophy Focal-onset seizure Specific learning disability Cerebral calcification Generalized-onset seizure Heterotopia Hypoplasia of dental enamel Cafe-au-lait spot Hyperventilation Abnormality of the respiratory system Abnormality of the cerebral white matter Shagreen patch Ungual fibroma Hypomelanotic macule Subependymal nodules Optic nerve glioma Sleep disturbance Angiofibromas Renal angiomyolipoma Premature chromatid separation Ependymoma Flank pain Generalized hypopigmentation Adenoma sebaceum Fibroma Chylothorax Gingival fibromatosis Pneumothorax Astrocytoma Brain neoplasm White hair Renal neoplasm Depressed nasal ridge Congenital hypoplastic anemia Bone marrow hypocellularity Hip dysplasia Short chin Wormian bones Gynecomastia Wide anterior fontanel Gingival overgrowth Short phalanx of finger Thickened skin Bowing of the long bones Interphalangeal joint contracture of finger Mitral valve prolapse Dental malocclusion Short long bone Full cheeks Broad nasal tip Delayed eruption of teeth Single transverse palmar crease Thick vermilion border Hirsutism Short palm Thin vermilion border Short philtrum Camptodactyly of finger Abnormality of the metacarpal bones Cholelithiasis Joint stiffness Buphthalmos Cortical irregularity Serpentine fibula Prominent coccyx Broad clavicles Multiple skeletal anomalies Hyperplasia of the maxilla Broad alveolar ridges Thoracolumbar kyphosis Vacuolated lymphocytes Anterior segment developmental abnormality Concave nasal ridge Acne Beaking of vertebral bodies Abnormally large globe Genu recurvatum Double outlet right ventricle Premature loss of teeth Megalocornea Aseptic necrosis Flared metaphysis Metatarsus adductus Tricuspid regurgitation Flat occiput Wide mouth Protruding ear Abnormal dermatoglyphics Osteosarcoma Partial duplication of thumb phalanx Everted upper lip vermilion Progressive cervical vertebral spine fusion Parietal foramina Unilateral cleft lip Reticulocytopenia Anemia of inadequate production Increased mean corpuscular volume Aplastic anemia 11 pairs of ribs Hypoplastic ilia Branchial cyst Thrombocytosis Macrocytic anemia Acute myeloid leukemia Myeloid leukemia Absent thumb Vertebral fusion Colon cancer Triphalangeal thumb Myelodysplasia Abnormality of the hand Hypoplasia of the radius Erythroid hypoplasia Persistence of hemoglobin F Abnormality of the pinna Inguinal hernia Camptodactyly Deeply set eye Umbilical hernia Coarse facial features Kyphoscoliosis High forehead Mandibular prognathia Proptosis Brachycephaly Prominent forehead Pectus excavatum Hypoplastic anemia Abnormality of cardiovascular system morphology Intellectual disability, severe Anteverted nares Wide nasal bridge Brachydactyly Depressed nasal bridge Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Abnormality of the first metatarsal bone Alopecia Ectopic ossification in tendon tissue Meningocele Infantile axial hypotonia Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination 3-Methylglutaconic aciduria Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Mitochondrial myopathy Abnormal muscle fiber protein expression Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Premature ovarian insufficiency Abnormal electroretinogram Recurrent upper respiratory tract infections Easy fatigability Eosinophilia Ragged-red muscle fibers Corneal dystrophy Exercise intolerance Exercise-induced lactic acidemia Depletion of mitochondrial DNA in muscle tissue Esotropia Paresthesia Abnormality of the metaphysis Abnormal lung morphology Osteoarthritis Lumbar hyperlordosis High myopia Limb undergrowth Pulmonary hypoplasia Flat face Retinal degeneration Micromelia Gait disturbance Platyspondyly Pectus carinatum Autoimmunity Hyperlordosis Apnea Arthritis Polydactyly Severe short stature Midface retrusion Malar flattening Pulmonary arterial hypertension Aciduria Abnormality of epiphysis morphology Sudden cardiac death Abnormal atrioventricular conduction Endocardial fibroelastosis Peters anomaly Abnormal myocardium morphology Left ventricular noncompaction Supraventricular tachycardia Hypoplastic left heart Ventricular fibrillation Ventricular tachycardia Hepatic steatosis Histiocytoid cardiomyopathy Dilated cardiomyopathy Microphthalmia Hypertrophy of the upper limb Hypertrophy of the lower limb Peripheral arteriovenous fistula Vascular skin abnormality Varicose veins Nevus flammeus Telangiectasia of the skin Abnormal bleeding Decreased activity of mitochondrial complex I Increased mitochondrial number Increased serum lactate Adducted thumb Lactic acidosis Congenital cataract Feeding difficulties in infancy Mental deterioration Hypertrophic cardiomyopathy Acidosis Cerebellar hypoplasia Myopathy Muscle fibrillation Cortical gyral simplification Drooling Hypoplasia of the retina Knee flexion contracture Open mouth Spastic tetraplegia Sloping forehead Tetraplegia Abnormality of skin pigmentation Telecanthus Spasticity Cryptorchidism Acute tubular necrosis Abnormal form of the vertebral bodies Rhizomelia Ectopic ossification in ligament tissue Expanded phalanges with widened medullary cavities Aspiration Abnormal vertebral morphology Myocardial infarction Hypotrichosis Conductive hearing impairment Difficulty walking Pneumonia Clinodactyly Fever Expanded metacarpals with widened medullary cavities Widely spaced teeth Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Aortic arch calcification Hypoplasia of the tooth germ Tendon rupture Dentinogenesis imperfecta limited to primary teeth Unerupted tooth Premature loss of permanent teeth Mitral valve calcification Hip subluxation Finger clinodactyly Sarcoma Shallow acetabular fossae Stiff neck Ectopic ossification in muscle tissue Small cervical vertebral bodies Ectopic ossification Fibrosarcoma Osteochondroma Synostosis of joints Soft tissue sarcoma Low-grade fever Overbite Broad femoral neck Metaphyseal widening Short 1st metacarpal Short hallux Myositis Broad neck Exostoses Ankylosis Alopecia of scalp Basal ganglia calcification Spinal rigidity Hallux valgus Aortic valve calcification Muscle fiber atrophy Coxa vara Vitreoretinopathy Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Ovoid vertebral bodies Barrel-shaped chest Hypoplasia of the odontoid process Neonatal short-trunk short stature Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Bowing of the legs Spondyloepiphyseal dysplasia Genu varum Growth abnormality Sleep apnea Sciatica Limitation of knee mobility Subvalvular aortic stenosis Cutaneous photosensitivity Onycholysis Osteolytic defects of the phalanges of the hand High anterior hairline Periodontitis Heart block Epiphora Psoriasiform dermatitis Scaling skin Coxa valga Aortic valve stenosis Hypoplasia of the maxilla Delayed calcaneal ossification Carious teeth Joint laxity Thin upper lip vermilion Pes cavus Recurrent respiratory infections Visual loss Recurrent infections Abnormality of the dentition Skeletal muscle atrophy Abnormal facial shape Anterior concavity of thoracic vertebrae



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