Congestive heart failure, and Hydronephrosis

Diseases related with Congestive heart failure and Hydronephrosis

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


Top matches:

High match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

High match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

High match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

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Other less relevant matches:

High match HENNEKAM SYNDROME


Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low match CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1


Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of renal and urinary tract malformations. CAKUT structural anomalies range from complete renal agenesis (the most severe), to renal hypodysplasia, multicystic kidney dysplasia, duplex renal collecting system, ureteropelvic junction obstruction (UPJO), megaureter, posterior urethral valves (PUV), and vesicoureteral reflux (VUR). Renal abnormalities are observed in close relatives of up to 10% of CAKUT patients, although these are frequently asymptomatic. The phenotype often does not follow classic mendelian inheritance: family members with the same genetic defect may have variable phenotypes, ranging from severe renal insufficiency to asymptomatic anomalies. CAKUT occurs in about 1 in 500 live births, but are severe enough to cause neonatal death in about 1 in 2,000 births. In addition, CAKUT can occur in syndromic disorders in association with other congenital anomalies, such as papillorenal syndrome (OMIM ) (summary by Renkema et al., 2011). Genetic Heterogeneity of Congenital Anomalies of Kidney and Urinary TractAlso see CAKUT2 (OMIM ), caused by mutation in the TBX18 gene (OMIM ) on chromosome 6q14.

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1 Is also known as renal hypodysplasia, nonsyndromic, 1|rhdns1

Related symptoms:

  • Hearing impairment
  • Hypertension
  • Renal insufficiency
  • Hydronephrosis
  • Stage 5 chronic kidney disease


SOURCES: OMIM MESH MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1

Low match OCHOA SYNDROME


Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.

OCHOA SYNDROME Is also known as partial facial palsy with urinary abnormalities|inverted smile-neurogenic bladder syndrome|urofacial syndrome|hydronephrosis-inverted smile syndrome

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Renal insufficiency
  • Constipation
  • Hydronephrosis


SOURCES: ORPHANET MENDELIAN

More info about OCHOA SYNDROME

Low match CONGENITAL HYDRONEPHROSIS


Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.

CONGENITAL HYDRONEPHROSIS Is also known as pujo|upjo|pelviureteric junction obstruction|multicystic renal dysplasia, bilateral|hydronephrosis due to pujo|mcrd|ureteropelvic junction obstruction

Related symptoms:

  • Pain
  • Renal insufficiency
  • Polyhydramnios
  • Hydronephrosis
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL HYDRONEPHROSIS

Low match NEPHROGENIC DIABETES INSIPIDUS


Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

NEPHROGENIC DIABETES INSIPIDUS Is also known as ndi|diabetes insipidus, nephrogenic, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROGENIC DIABETES INSIPIDUS

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Vesicoureteral reflux Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Renal insufficiency Hearing impairment Ventricular septal defect Polyhydramnios Cryptorchidism Global developmental delay Multicystic kidney dysplasia Growth delay Feeding difficulties in infancy Short stature Hydroureter Renal agenesis Failure to thrive Scoliosis Renal dysplasia Constipation Hypertelorism Generalized hypotonia Abnormal heart morphology Abnormality of the kidney Depressed nasal bridge Cataract Feeding difficulties Talipes equinovarus Ventriculomegaly Ureteropelvic junction obstruction Intellectual disability, mild Intellectual disability, severe Patent ductus arteriosus Unilateral renal agenesis Abnormal palate morphology Facial asymmetry Frontal bossing Micrognathia Dolichocephaly Intellectual disability, moderate Telecanthus Downslanted palpebral fissures Optic atrophy Macrocephaly Clinodactyly of the 5th finger Ptosis Abnormal facial shape Sensorineural hearing impairment Long philtrum Narrow palate Respiratory tract infection Abnormality of the dentition Low-set, posteriorly rotated ears High forehead Epicanthus Prominent forehead Agenesis of corpus callosum Abnormal cardiac septum morphology Syndactyly Finger syndactyly Recurrent urinary tract infections Hepatomegaly Intestinal malrotation Premature birth Muscular hypotonia Abnormality of cardiovascular system morphology Hydrocephalus Pectus excavatum Oligohydramnios

Rare Symptoms - Less than 30% cases


Tachypnea Relative macrocephaly Autism Postnatal growth retardation Abnormality of the sternum Chorioretinal coloboma Ectropion Anal atresia Aplasia/Hypoplasia of the corpus callosum Tachycardia Heart murmur Spina bifida Pleural effusion Transposition of the great arteries Pachygyria Horseshoe kidney Coarse facial features Narrow chest Pyloric stenosis Hip dislocation Ectopic kidney Microcornea Iris coloboma Long face Hypoplastic left heart Intrauterine growth retardation Dysphagia Coloboma Abnormal eyelash morphology Short thumb Progressive visual loss Smooth philtrum Short toe Hypospadias Aplasia/Hypoplasia of the eyebrow Lymphedema Pes planus Decreased antibody level in blood Myopia Dilatation Bulbous nose Microphthalmia Inguinal hernia Cerebral hemorrhage Recurrent respiratory infections Delayed skeletal maturation Coarctation of aorta Abnormality of the cardiovascular system Growth hormone deficiency Cardiomegaly Webbed neck Osteopenia Cavernous hemangioma Malar flattening Hepatic steatosis Irritability Cystic renal dysplasia Bruising susceptibility Microcephaly Flexion contracture High palate Respiratory insufficiency Respiratory distress Cardiomyopathy Posteriorly rotated ears Splenomegaly Wide nasal bridge Hypoglycemia Neurological speech impairment Leukemia Edema Abnormality of the foot Hernia Enlarged kidney Polydipsia Hypertension Craniosynostosis Wheezing Brachydactyly Camptodactyly Spasticity Nystagmus Umbilical hernia Strabismus Retrognathia Missing ribs Anteverted nares Short neck Vomiting Behavioral abnormality Hypothyroidism Duodenal atresia Renal hypoplasia Thrombocytopenia Cerebral atrophy Short nose Dehydration Abnormality of the ulna Abnormal myocardium morphology Abnormal hair pattern Curly hair Generalized hyperpigmentation Poor appetite Biparietal narrowing Deep palmar crease Abnormality of refraction Alopecia of scalp Dystrophic fingernails Abnormality of the optic nerve Premature skin wrinkling Atopic dermatitis Woolly hair Thick upper lip vermilion Submucous cleft hard palate Underdeveloped supraorbital ridges Abnormality of the gastrointestinal tract Anal stenosis Delayed CNS myelination Hypoplasia of the zygomatic bone Arnold-Chiari type I malformation Absent eyelashes Abnormality of the testis Short attention span Delayed gross motor development Multiple cafe-au-lait spots Low posterior hairline Abnormality of the nail Aspiration Cerebral visual impairment Hyperpigmentation of the skin Cafe-au-lait spot Thickened skin Decreased body weight Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Fine hair Narrow forehead Oculomotor apraxia Dental malocclusion Nevus Full cheeks Abnormal bleeding Abdominal distention Palmoplantar keratoderma Sleep disturbance High, narrow palate Thick vermilion border Retinal dystrophy Falls Joint hypermobility Abnormality of skin pigmentation Sparse eyelashes Cutis laxa Abnormal heart valve morphology Scaling skin Long palpebral fissure Infantile spasms Neurofibromas Neurodevelopmental delay Malnutrition Open bite Large for gestational age Absent eyebrow Obsessive-compulsive behavior Chronic otitis media Cubitus valgus Melanocytic nevus Sparse eyebrow Hemangioma Bilateral ptosis Failure to thrive in infancy Brittle hair Redundant skin Deep philtrum Hyperextensible skin Poor suck Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Abnormal mitral valve morphology Abnormality of the genitourinary system Sleep apnea Gastrointestinal dysmotility Postural instability Slow-growing hair Long hallux Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Abnormality of the head Stage 5 chronic kidney disease Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Double outlet right ventricle Abnormality of the curvature of the vertebral column Hypercalciuria Natal tooth Nausea and vomiting Hypernatremic dehydration Functional abnormality of the bladder Unexplained fevers Hypernatremia Megacystis Hyposthenuria Nocturia Enuresis nocturna Nephrogenic diabetes insipidus Hypovolemia Pollakisuria Diabetes insipidus Polyuria Anorexia Fever Congenital posterior urethral valve Nephrotic syndrome Urinary incontinence Bowel incontinence Urethral obstruction Pain Nephropathy Hematuria Abnormality of the urinary system Renal sarcoma Sarcoma Renal duplication Ureterocele Flank pain Bilateral renal dysplasia Congenital megaureter Bipolar affective disorder Slender finger Thickened helices Optic nerve dysplasia Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Patchy alopecia Multiple plantar creases Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Eyelid fasciculation Oral aversion Partial agenesis of the corpus callosum Abnormal form of the vertebral bodies Atrioventricular canal defect Flat occiput Hammertoe Trigonocephaly Hand polydactyly Schizophrenia Infantile muscular hypotonia Azoospermia Holoprosencephaly Bone marrow hypocellularity Aortic valve stenosis Leukodystrophy Sinusitis Amblyopia Pancytopenia Immunodeficiency Skin rash Recurrent infections Clinodactyly Osteoporosis Hypogonadism Thin upper lip vermilion Attention deficit hyperactivity disorder Small for gestational age Eczema Toe syndactyly Talipes Single transverse palmar crease Ichthyosis Otitis media Microdontia Peripheral axonal neuropathy Cutaneous finger syndactyly Dry skin Colpocephaly Tetralogy of Fallot Pulmonary hypoplasia Polydactyly Pneumonia Anemia Cleft palate Posterior staphyloma Short 2nd toe Scleral staphyloma Lop ear Lens luxation Short upper lip Profound global developmental delay Ambiguous genitalia Hypoplasia of teeth Neurogenic bladder Congenital nystagmus Bowing of the legs Aortic aneurysm Genu varum Aortic regurgitation Short chin Dental crowding Thick lower lip vermilion Intellectual disability, profound Bilateral sensorineural hearing impairment Hypoplasia of penis Congenital diaphragmatic hernia Esotropia Radioulnar synostosis Aplasia/Hypoplasia of the radius Absent radius Occipital encephalocele Non-midline cleft lip Vertebral segmentation defect Right bundle branch block Bundle branch block Dextrocardia Preaxial hand polydactyly Tracheoesophageal fistula Bifid scrotum Triphalangeal thumb Preaxial polydactyly Abnormality of the ribs Laryngomalacia Hypoplasia of the radius Abnormality of the outer ear Hemivertebrae Situs inversus totalis Preauricular skin tag Abnormal vertebral morphology Large fontanelles Abnormality of the genital system Omphalocele Choanal atresia Small nail Convex nasal ridge Prominent nose Esophageal atresia Tapered finger Hypoplastic toenails Overfolded helix Polycystic kidney dysplasia Ventricular arrhythmia Hyperammonemia Knee flexion contracture Elbow flexion contracture Sloping forehead Wide intermamillary distance Aciduria Coma Metabolic acidosis Polymicrogyria Heart block Hepatic failure Lethargy Dilated cardiomyopathy Apnea Neonatal hypotonia Elevated hepatic transaminase Acidosis Respiratory failure Elevated serum creatine phosphokinase Arrhythmia Fatigue Hyperreflexia Hyperkalemia Hypothermia Highly arched eyebrow Intracerebral periventricular calcifications Joint hyperflexibility Corneal opacity Mental deterioration Gait ataxia Absent speech Hypoplasia of the corpus callosum Abnormality of the skeletal system Visual impairment Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Tapered toe Hypoketotic hypoglycemia Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Abnormality of nervous system morphology Long toe Ureteral duplication Anencephaly Aplasia/Hypoplasia of the lungs Astigmatism Primary hypothyroidism Pleural lymphangiectasia Pericardial lymphangiectasia Thyroid lymphangiectasia Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Pulmonary lymphangiectasia Lymphangioma Erysipelas Intestinal lymphangiectasia Abnormal oral mucosa morphology Chylothorax Neoplasm Rectal prolapse Periorbital edema Protein-losing enteropathy Generalized edema Hypoproteinemia Sparse axillary hair Nonimmune hydrops fetalis Arteriovenous malformation Hypoplastic iliac wing Edema of the lower limbs Polysplenia Coronal craniosynostosis Ataxia Delayed speech and language development Palpebral edema Hypertrophic cardiomyopathy Genu valgum Pulmonic stenosis Hypotrichosis Hypermetropia Abnormality of the cerebral white matter Nail dystrophy Pruritus Pectus carinatum Scarring Sparse hair Erythema Abnormality of the eye Aggressive behavior Dysarthria EEG abnormality Macrotia Gastroesophageal reflux Proptosis Hyperkeratosis Cerebral cortical atrophy Hyperhidrosis Alopecia Encephalopathy Depressivity Kyphosis Hypertonia Blindness External ear malformation Increased number of teeth Single umbilical artery Abnormality of the urethra Midface retrusion Diarrhea Cognitive impairment Patent urachus Asymmetric crying face Abnormal tracheobronchial morphology Perineal fistula Potter facies Abnormality of the gallbladder Hemifacial hypoplasia Absence of the sacrum Anorectal anomaly Abnormality of the intervertebral disk Glaucoma Lower limb undergrowth Vertebral clefting Laryngeal stenosis Abnormality of the nasopharynx Abnormal sacrum morphology Supernumerary ribs Tethered cord Abnormality of female internal genitalia Abnormality of the pancreas Atelectasis Rectovaginal fistula Tracheal stenosis Hyperactivity Narrow mouth Pericardial effusion Gingival overgrowth Abnormality of dental morphology Hypoalbuminemia Reduced number of teeth Oligodontia Cutaneous syndactyly Abnormal intestine morphology Spina bifida occulta Hypocalcemia Bilateral single transverse palmar creases Joint contracture of the hand Lymphopenia Hydrops fetalis Ascites Hepatosplenomegaly Delayed eruption of teeth Short foot Small hand Hirsutism Short palm Flat face Lymphadenopathy Malabsorption Broad forehead Microtia Short philtrum Camptodactyly of finger Conductive hearing impairment Hypertonic dehydration



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