Edema, and Patent ductus arteriosus

Diseases related with Edema and Patent ductus arteriosus

In the following list you will find some of the most common rare diseases related to Edema and Patent ductus arteriosus that can help you solving undiagnosed cases.


Top matches:

Low match LEFT VENTRICULAR NONCOMPACTION


Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium|lvnc|left ventricular hypertrabeculation|left ventricular noncompaction 1 with or without congenital heart defects

Related symptoms:

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION

Low match HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA


Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2


Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

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Other less relevant matches:

Low match MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME


Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.

MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME Is also known as mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy

Related symptoms:

  • Global developmental delay
  • Cryptorchidism
  • Hypertension
  • Hypoplasia of the corpus callosum
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME

Low match KLIPPEL-TRÉNAUNAY SYNDROME


Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hepatomegaly
  • Macrocephaly
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about KLIPPEL-TRÉNAUNAY SYNDROME

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Low match ACYL-COA DEHYDROGENASE 9 DEFICIENCY


Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency|acad9 deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY

Low match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Low match THANATOPHORIC DYSPLASIA TYPE 1


Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

Low match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Top 5 symptoms//phenotypes associated to Edema and Patent ductus arteriosus

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Redundant skin Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Edema and Patent ductus arteriosus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Ventricular septal defect Acidosis Ventriculomegaly Brachydactyly Cognitive impairment Lactic acidosis Left ventricular hypertrophy Metabolic acidosis Congestive heart failure Polyhydramnios

Rare Symptoms - Less than 30% cases


Narrow chest Decreased liver function Abnormality of the metaphysis Low-set ears Ascites Elevated hepatic transaminase Flat face Micromelia Abnormal facial shape Platyspondyly Increased serum lactate Abnormality of the kidney Cryptorchidism Proptosis Kyphosis Stroke Hydrocephalus Frontal bossing Depressed nasal bridge Hearing impairment Abnormal heart morphology Ptosis Intellectual disability Skeletal dysplasia Ventricular hypertrophy Short stature Increased nuchal translucency Arrhythmia Sudden cardiac death Failure to thrive Hydrops fetalis Thrombocytopenia Cardiomyopathy Pulmonary embolism Hypertrophic cardiomyopathy Lethal short-limbed short stature Short sacroiliac notch Exercise intolerance Limitation of joint mobility Aplasia/Hypoplasia of the lungs Cloverleaf skull Hypoplastic ilia Short femur Acanthosis nigricans Hypertension Prolonged prothrombin time Proximal tubulopathy Microvesicular hepatic steatosis Decreased activity of mitochondrial respiratory chain Dicarboxylic aciduria Macrovesicular hepatic steatosis Subperiosteal bone formation Decreased activity of mitochondrial complex I Nonketotic hypoglycemia Generalized hypotonia Elevated creatine kinase after exercise Periostosis Increased lactate dehydrogenase activity Elevated plasma acylcarnitine levels Cerebellar hemorrhage Cerebral edema Severe lactic acidosis Decreased plasma carnitine Renal insufficiency Dilated cardiomyopathy Myalgia EMG: myopathic abnormalities Hypoglycemia Encephalopathy Hyperammonemia Depressivity Myopathy Generalized edema Scoliosis Hepatic failure Muscle weakness Fatigable weakness Acute hepatic failure Generalized muscle weakness Infantile muscular hypotonia Hepatic steatosis Palmoplantar cutis laxa Hypertelorism Short ribs Bowing of the long bones Wide anterior fontanel Femoral bowing Excessive wrinkled skin Abnormality of the sacroiliac joint Severe short stature Joint hyperflexibility Decreased fetal movement Encephalocele Holoprosencephaly Split hand Disproportionate short-limb short stature Metaphyseal irregularity Abnormality of neuronal migration Flared metaphysis Short thorax Occipital encephalocele Small face Severe short-limb dwarfism Small foramen magnum Small abnormally formed scapulae Heterotopia Intellectual disability, profound Delayed speech and language development Low posterior hairline Epicanthus Downslanted palpebral fissures Short neck Hyperkeratosis Abnormal cardiac septum morphology Leukemia Pulmonic stenosis Webbed neck Abnormality of the cardiovascular system Hyperpigmentation of the skin Joint stiffness Relative macrocephaly Hyperextensible skin Systemic lupus erythematosus Pleural effusion Abnormality of the sternum Curly hair Acute lymphoblastic leukemia Graves disease Chylothorax Hip pain Eczematoid dermatitis Wormian bones Wide cranial sutures Hypoplasia of the corpus callosum Pericardial effusion Extramedullary hematopoiesis Sideroblastic anemia Agenesis of corpus callosum Neonatal hypotonia Feeding difficulties in infancy Small for gestational age Lethargy Hypokinesia Redundant neck skin Global developmental delay Dilatation EEG abnormality Abnormality of the cerebral white matter Asthma Intestinal malrotation Coarctation of aorta Pulmonary arterial hypertension Abnormal lung morphology Tachypnea Cholelithiasis Dilatation of the cerebral artery Abnormality of the vasculature Colpocephaly Thoracic aortic aneurysm Oligohydramnios Intrauterine growth retardation Hypoperistalsis Left bundle branch block Respiratory distress Tachycardia Syncope Atrial fibrillation Mitral regurgitation Ventricular tachycardia Ventricular arrhythmia Atrioventricular block Bundle branch block Right bundle branch block Hypoplastic left heart Wolff-Parkinson-White syndrome Anemia Concave nasal ridge Restrictive cardiomyopathy Left ventricular noncompaction Abnormal myocardium morphology Abnormal left ventricle morphology Abnormal thrombosis Right ventricular failure Biventricular hypertrophy Permanent atrial fibrillation Left ventricular noncompaction cardiomyopathy Noncompaction cardiomyopathy Abnormality of the fascia Mydriasis Periventricular white matter hyperdensities Long clavicles Palmoplantar hyperkeratosis Delayed skeletal maturation Hyperhidrosis Osteoporosis Osteopenia Coarse facial features Arthralgia Arthritis Erythema Skin rash Large fontanelles Thickened skin Patent foramen ovale High palate Clubbing Acne Disproportionate tall stature Thickened calvaria Arthropathy Growth hormone excess Joint swelling Heart block Flushing Osteolytic defects of the phalanges of the hand Clubbing of fingers Seborrheic dermatitis Pectus excavatum Flexion contracture Cystic lung disease Abnormality of the skull Retinal infarction Hyperperistalsis Microcephaly Hepatomegaly Hematuria Gastrointestinal hemorrhage Tall stature Venous thrombosis Hemangioma Prolonged bleeding time Microcytic anemia Cellulitis Hypercoagulability Pain Lower limb asymmetry Venous insufficiency Abnormality of the pulmonary artery Abnormality of the menstrual cycle Abnormal tricuspid valve morphology Upper limb asymmetry Internal hemorrhage Peripheral arteriovenous fistula Abnormality of skeletal morphology Growth delay Neoplasm Cleft palate Wide-cupped costochondral junctions



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