Congestive heart failure, and Dehydration

Diseases related with Congestive heart failure and Dehydration

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


Top matches:

Medium match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Medium match 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D


3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Medium match COG7-CDG


COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

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Other less relevant matches:

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

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1


X-linked cardiac valvular dysplasia is a rare X-linked form of heart disease characterized by mitral and/or aortic valve regurgitation. Only males have been diagnosed as affected, while carrier females are asymptomatic. The histologic features do not differ from the common severe and idiopathic mitral valve prolapse.

CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 Is also known as valvular heart disease, congenital|xmvd|myxomatous valvular dystrophy, x-linked

Related symptoms:

  • Edema
  • Congestive heart failure
  • Abnormality of metabolism/homeostasis
  • Mitral valve prolapse
  • Mitral regurgitation


SOURCES: MESH OMIM MENDELIAN

More info about CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1

Low match PULMONARY VENOOCCLUSIVE DISEASE


Pulmonary venoocclusive disease primarily affects the postcapillary venous pulmonary vessels and may involve significant pulmonary capillary dilation and/or proliferation. PVOD is an uncommon cause of pulmonary artery hypertension (PPH; see {178600}), a severe condition characterized by elevated pulmonary artery pressure leading to right heart failure and death. PVOD accounts for 5 to 10% of 'idiopathic' PPH and has an estimated incidence of 0.1 to 0.2 cases per million. The pathologic hallmark of PVOD is the extensive and diffuse occlusion of pulmonary veins by fibrous tissue, with intimal thickening present in venules and small veins in lobular septa and, rarely, larger veins. Definitive diagnosis of PVOD requires histologic analysis of a lung sample, although surgical lung biopsy is often too invasive for these frail patients. Patients with PVOD respond poorly to available therapy, therefore it is crucial to distinguish PVOD from other forms of PPH. Radiologic characteristics suggestive of PVOD on high-resolution CT of the chest include nodular ground-glass opacities, septal lines, and lymph node enlargement. In addition, because PVOD mainly affects postcapillary vasculature, it causes chronic elevation of pulmonary capillary pressure and thus promotes occult alveolar hemorrhage, which may be a characteristic feature of PVOD (summary by Montani et al., 2008). Genetic Heterogeneity of Pulmonary Venoocclusive DiseaseSee also PVOD2 (OMIM ), caused by mutation in the EIF2AK4 gene (OMIM ) on chromosome 15q15.

PULMONARY VENOOCCLUSIVE DISEASE Is also known as pvod

Related symptoms:

  • Hypertension
  • Edema
  • Congestive heart failure
  • Dyspnea
  • Pulmonary arterial hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about PULMONARY VENOOCCLUSIVE DISEASE

Low match CARDIOMYOPATHY, DILATED, 1Y; CMD1Y


Related symptoms:

  • Pain
  • Respiratory distress
  • Cardiomyopathy
  • Edema
  • Atrial septal defect


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1Y; CMD1Y

Low match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2


Related symptoms:

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Congestive heart failure
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2

Low match LEFT VENTRICULAR NONCOMPACTION 10; LVNC10


Related symptoms:

  • Hepatomegaly
  • Respiratory distress
  • Congestive heart failure
  • Dyspnea
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 10; LVNC10

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

Symptoms // Phenotype % cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Failure to thrive Micrognathia Respiratory distress Abnormal heart morphology Ventricular septal defect Feeding difficulties Macrocephaly Tachycardia Cerebral atrophy Hypertrophic cardiomyopathy Intellectual disability Behavioral abnormality Microcephaly Dyspnea Growth delay Aortic valve stenosis Low-set, posteriorly rotated ears Mitral regurgitation Hypertension Hepatomegaly

Rare Symptoms - Less than 30% cases


Short nose Intellectual disability, mild Long philtrum Spasticity Tetralogy of Fallot Abnormality of the dentition Intrauterine growth retardation Wide nasal bridge Epicanthus Depressed nasal bridge Flexion contracture Ptosis Cataract Cryptorchidism Thick vermilion border Short neck Recurrent infections Thrombocytopenia Sudden cardiac death Proteinuria Chest pain Adducted thumb Mitral valve prolapse Short stature Hearing impairment Scoliosis Strabismus Sensorineural hearing impairment Abnormal facial shape Hernia Patent ductus arteriosus Pectus excavatum Intellectual disability, moderate Abnormal form of the vertebral bodies Coarctation of aorta Microdontia Otitis media Postural instability Infantile muscular hypotonia Smooth philtrum Neurological speech impairment Small for gestational age Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Craniosynostosis Feeding difficulties in infancy Pes planus Amblyopia Osteopenia Schizophrenia High forehead Hypothyroidism Osteoporosis Bicuspid aortic valve Subvalvular aortic stenosis Chronic constipation Constipation Clinodactyly of the 5th finger Urethral stenosis Myocardial infarction Pain Cardiomegaly Recurrent respiratory infections Inguinal hernia Left ventricular noncompaction cardiomyopathy Hepatosplenomegaly Multiple renal cysts Myxomatous mitral valve degeneration Dilated cardiomyopathy Dilatation Macrotia Elevated hepatic transaminase Hypoglycemia Pulmonary edema Respiratory insufficiency Abnormality of the kidney Abnormality of the liver Depressivity Myopathy Ventriculomegaly Scarring Cholestasis Hyperreflexia Renal insufficiency Aortic regurgitation Atrial fibrillation Decreased plasma carnitine Portal hypertension Left ventricular noncompaction Premature graying of hair Reduced bone mineral density Open bite Arnold-Chiari malformation Ischemic stroke Hallux valgus Hydrops fetalis Sacral dimple Syncope Vertebral segmentation defect Abnormality of pelvic girdle bone morphology Widely spaced teeth Celiac disease Left ventricular hypertrophy Progressive hearing impairment Abnormal dermatoglyphics Cutis laxa High hypermetropia Spina bifida occulta Loss of consciousness Incoordination Polyuria Hypoplastic toenails Obsessive-compulsive behavior Chronic otitis media Nephritis Abnormality of the voice Pulmonary artery atresia Precocious puberty Aortic aneurysm Abnormality of dental morphology Radioulnar synostosis Unilateral renal agenesis Abnormality of the fingernails Hypercalcemia Redundant skin Tracheoesophageal fistula Cholelithiasis Hypercalciuria Dysphonia Glucose intolerance Polycystic ovaries Failure to thrive in infancy Food intolerance Abnormality of dental enamel Oral cleft Esotropia Dental malocclusion Vesicoureteral reflux Oliguria Full cheeks Macroglossia Broad nasal tip Hypodontia Sleep disturbance Everted lower lip vermilion Dysmetria Abnormality of the cardiovascular system Joint hyperflexibility Genu valgum Malabsorption Carious teeth Nausea and vomiting Pulmonic stenosis Corneal opacity Broad forehead Stroke Blepharophimosis Renal agenesis Narrow forehead Nephrocalcinosis Open mouth Hemivertebrae Hypogonadotrophic hypogonadism Pointed chin Increased body weight Increased bone mineral density Hoarse voice Gingival overgrowth Nephrolithiasis Recurrent urinary tract infections Involuntary movements Recurrent otitis media Hypotelorism Hemiparesis Thick lower lip vermilion Small nail Renal hypoplasia Ventricular hypertrophy Type II diabetes mellitus Hypsarrhythmia Abnormal myocardium morphology Abnormality of extrapyramidal motor function Hypoplasia of penis Narrow face Megalocornea Prematurely aged appearance Increased nuchal translucency Unilateral renal hypoplasia Paroxysmal bursts of laughter Retinal vascular tortuosity Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Abnormal endocardium morphology Abnormal glucose tolerance Early onset of sexual maturation Dyssynergia Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Arterial stenosis Rectal prolapse Stellate iris Thyroid hypoplasia Aplasia/Hypoplasia of the iris Peptic ulcer Supravalvular aortic stenosis Hyperacusis Retinal arteriolar tortuosity Infantile hypercalcemia Coronary artery stenosis Abnormality of the gastric mucosa Renovascular hypertension Abnormal social behavior Renal artery stenosis Flat cornea Abnormality of the bladder Synostosis of joints Renal duplication Nocturia Obsessive-compulsive trait Impaired visuospatial constructive cognition Aortic arch aneurysm Overriding aorta Calcification of the aorta Tubulointerstitial abnormality Abnormality of the ankles Vascular tortuosity Colonic diverticula Periorbital edema Cystic renal dysplasia Facial cleft Poor coordination Large earlobe Tubulointerstitial nephritis Right ventricular hypertrophy Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Down-sloping shoulders Patellar dislocation Abnormality of the vasculature Pulmonary artery stenosis Soft skin Cardiomyopathy Nevus flammeus Palpitations Arnold-Chiari type I malformation Posterior embryotoxon Abnormality of lipid metabolism Pelvic kidney Insomnia Ventricular tachycardia Myocarditis Restlessness Abnormality of the neck Elevated jugular venous pressure Bladder diverticulum Periorbital fullness Functional abnormality of male internal genitalia Lacrimation abnormality Descending aorta hypoplasia Abnormal renal morphology Joint stiffness Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Abnormality of metabolism/homeostasis Peripheral pulmonary artery stenosis Tricuspid regurgitation Short chordae tendineae of the mitral valve Abnormality of the cerebral vasculature Short chordae tendineae of the tricuspid valve Pulmonary arterial hypertension Gait imbalance Thromboembolism Abnormality of refraction Cerebral ischemia Dyslexia Villous atrophy Elevated pulmonary artery pressure Enuresis Pulmonary venous occlusion Wide mouth Macular hypoplasia Paralysis Protruding tongue Optic atrophy Brachydactyly Low-set ears Hypertelorism Mild proteinuria Abnormal glycosylation Areflexia of lower limbs Premature skin wrinkling Distal arthrogryposis Inverted nipples Abnormality of immune system physiology Frontal bossing Delayed myelination Polyneuropathy Flat face Arthrogryposis multiplex congenita Abnormality of the pinna Jaundice Areflexia Diarrhea Abnormality of the skeletal system Fever Anemia Downslanted palpebral fissures Talipes equinovarus Propionyl-CoA carboxylase deficiency Hydronephrosis Narrow chest Toe syndactyly Dolichocephaly Hip dislocation Leukemia Finger syndactyly Skin rash Coloboma Postnatal growth retardation Camptodactyly Telecanthus Thin upper lip vermilion Anteverted nares Retrognathia Hypogonadism Prominent forehead Agenesis of corpus callosum Clinodactyly Hypospadias Abnormality of cardiovascular system morphology Microphthalmia Immunodeficiency Syndactyly Hydrocephalus Acute hyperammonemia Necrotizing encephalopathy Talipes Enlarged kidney Portal fibrosis Biliary tract abnormality Tubulointerstitial fibrosis Hepatic cysts Pancreatic cysts Congenital hepatic fibrosis Cholangitis Esophageal varix Atelectasis Chronic lung disease Polycystic kidney dysplasia Hematemesis Chronic kidney disease Renal hypoplasia/aplasia Hepatic fibrosis Abnormal lung morphology Depressed nasal ridge Oligohydramnios Renal cyst Pulmonary hypoplasia Stage 5 chronic kidney disease Respiratory failure Splenomegaly Hypersplenism Potter facies Encephalomalacia Coma Neutrophilia Hyperglycinuria Seborrheic dermatitis Organic aciduria Ketonuria Ketoacidosis Hypoventilation Opisthotonus Hyperammonemia Progressive neurologic deterioration Cyanosis Metabolic acidosis Periportal fibrosis Hepatic steatosis Lethargy Acidosis Alopecia Encephalopathy Vomiting Fatigue Skeletal muscle atrophy Absence of renal corticomedullary differentiation Azotemia Hypoplasia of the ear cartilage Facial asymmetry Anal atresia Autistic behavior Congenital thrombocytopenia Tremor Myopia Dysarthria Visual impairment Delayed speech and language development Cognitive impairment Cleft palate Ataxia Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Bilateral camptodactyly Hypertonia Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Long hallux Abnormality of the head Gait disturbance Kyphosis Broad columella Gastroesophageal reflux Protruding ear Irritability Hyperlordosis Developmental regression Cleft lip Joint laxity Anxiety Umbilical hernia Coarse facial features Arthralgia Kyphoscoliosis Autism Malar flattening Micropenis Cerebral cortical atrophy Glaucoma Abdominal pain Diabetes mellitus Cerebellar hypoplasia Elevated serum creatine phosphokinase Delayed skeletal maturation Obesity Absent speech Midface retrusion Nasolacrimal duct obstruction Abnormal thrombocyte morphology Bruising susceptibility Sinusitis Pyloric stenosis Tachypnea Abnormal palate morphology Azoospermia Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Bone marrow hypocellularity Spina bifida Leukodystrophy Short toe Short thumb Trigonocephaly Pachygyria Pancytopenia Eczema Growth hormone deficiency Webbed neck Decreased antibody level in blood Intestinal malrotation Premature birth Microcornea Single transverse palmar crease Iris coloboma Hand polydactyly Ectropion Labial hypoplasia Abnormal eyelash morphology Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Retinal dysplasia Diastasis recti Missing ribs Double outlet right ventricle Bipolar affective disorder Chorioretinal coloboma Wheezing Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Ventricular flutter



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