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:
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
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
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:
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
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
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
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
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
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
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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