Hypertension, and Polyhydramnios

Diseases related with Hypertension and Polyhydramnios

In the following list you will find some of the most common rare diseases related to Hypertension and Polyhydramnios that can help you solving undiagnosed cases.

Top matches:

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.

CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA Is also known as alveolar capillary dysplasia with misalignment of pulmonary vessels|acdmpv|alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Ventricular septal defect
  • Respiratory distress
  • Atrial septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA

Other less relevant matches:

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst|meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome|meckel syndrome type 7|goldston syndrome

Related symptoms:

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). Genetic Heterogeneity of Feingold SyndromeFeingold syndrome-2 (FGLDS2 ) is caused by hemizygous deletion of the MIR17HG gene (OMIM ) on chromosome 13q31.3.

FEINGOLD SYNDROME 1; FGLDS1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|oded syndrome|mmt syndrome|oculodigitoesophagoduodenal syndrome|moded|feingold syndrome|microceph

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about FEINGOLD SYNDROME 1; FGLDS1

Top 5 symptoms//phenotypes associated to Hypertension and Polyhydramnios

Symptoms // Phenotype % cases
Micrognathia Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
Patent ductus arteriosus Uncommon - Between 30% and 50% cases
Decreased fetal movement Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Polyhydramnios. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Depressed nasal bridge Global developmental delay Myopathy Hypertelorism Triangular face Stage 5 chronic kidney disease Portal hypertension Hepatic fibrosis Intestinal malrotation Intellectual disability Short stature Renal insufficiency Wide nasal bridge Pain Respiratory failure Edema

Rare Symptoms - Less than 30% cases

Skeletal muscle atrophy Polydactyly Inguinal hernia Dilatation Proteinuria Telecanthus Abnormality of the liver Hepatosplenomegaly Peripheral neuropathy Hepatomegaly Failure to thrive Annular pancreas Accessory spleen Volvulus Duodenal atresia Asplenia Hydroureter Interphalangeal joint contracture of finger Tracheoesophageal fistula High forehead Clinodactyly Renal cyst Epicanthus Upslanted palpebral fissure Blepharophimosis Narrow chest Everted lower lip vermilion Narrow palpebral fissure Arthritis Syndactyly Azotemia Brachydactyly Sensorineural hearing impairment Generalized hypotonia High palate Hearing impairment Abnormal vertebral morphology Cleft palate Polysplenia Bile duct proliferation Biliary cirrhosis Microcephaly Cholestasis Aortic valve stenosis Hydrops fetalis Aganglionic megacolon Atrial septal defect Muscle weakness Respiratory insufficiency Congestive heart failure Abdominal pain Acidosis Growth delay Flexion contracture Talipes equinovarus Pulmonary hypoplasia Ulnar deviation of the hand Cryptorchidism Arthrogryposis multiplex congenita Hydronephrosis Vesicoureteral reflux Anal atresia Smooth philtrum Limb undergrowth Microdontia Ectodermal dysplasia Full cheeks Vocal cord paralysis Depressed nasal tip Narrow forehead Dolichocephaly Short 5th finger Sparse hair Craniosynostosis Abnormality of the pinna Joint laxity Elevated hepatic transaminase Postaxial hand polydactyly Left ventricular hypertrophy Abnormality of the spleen Abnormality of digit Patent foramen ovale Chronic kidney disease Widely spaced teeth Cutis laxa Prominent occiput Megaduodenum Seizures Rhizomelia Esophageal atresia Cognitive impairment Plagiocephaly Sparse eyelashes External ear malformation Hyperbilirubinemia Short ribs Retrognathia Abnormal heart morphology Rod-cone dystrophy Ankle swelling Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Posteriorly rotated ears Aplasia/Hypoplasia of the middle phalanx of the 5th finger Doll-like facies Hypertensive retinopathy Finger syndactyly Ulnar deviation of the hand or of fingers of the hand Juvenile rheumatoid arthritis Abnormality of the wrist Slender long bone Rheumatoid arthritis Elevated alkaline phosphatase Aggressive behavior Wrist swelling Osteolysis involving tarsal bones Sparse eyebrow Splenomegaly Periorbital fullness Intestinal atresia Pectus excavatum Hernia Midface retrusion Frontal balding Aplasia of the middle phalanx of the hand Clinodactyly of the 5th finger Abnormality of the dentition Short neck Abnormality of the skeletal system Frontal bossing Small anterior fontanelle 4-5 toe syndactyly Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Preaxial polydactyly Mesomelia Neuroma Intestinal obstruction Episodic abdominal pain Hyperparathyroidism Disproportionate tall stature Gastrointestinal obstruction Anonychia Malnutrition Hypoalbuminemia Chronic constipation External ophthalmoplegia Pancreatitis Horseshoe kidney Recurrent urinary tract infections Osteolysis Short palpebral fissure Overgrowth Specific learning disability Achalasia Abdominal distention Facial asymmetry Barrett esophagus Urethral obstruction Megacystis Toe syndactyly Prune belly Microcolon Pollakisuria Peritonitis Urinary retention Intestinal pseudo-obstruction Abdominal situs inversus Oral cleft Aplasia/Hypoplasia of the abdominal wall musculature Thick vermilion border Single transverse palmar crease Round face Choanal atresia Nephronophthisis Cloverleaf skull Fever Short middle phalanx of finger Fused teeth Metopic synostosis Horizontal ribs Portal fibrosis Broad philtrum Dysphagia Cholangitis Macrotia High anterior hairline 2-3 toe syndactyly Hallux valgus Cutaneous finger syndactyly Cystic hygroma Hypoperistalsis Diarrhea Arachnodactyly Weight loss Ophthalmoplegia Broad forehead Prominent nasal bridge Joint stiffness Low-set, posteriorly rotated ears Umbilical hernia Pneumonia Nephritis Constipation Abnormality of cardiovascular system morphology Abnormal form of the vertebral bodies Short thumb Short toe Finger clinodactyly Abnormality of the hand Cachexia Metabolic alkalosis EMG abnormality Right-to-left shunt Dyspnea Hyporeflexia Cardiomyopathy Muscular hypotonia Abnormality of the pulmonary veins Abnormality of the pulmonary vasculature Pulmonary valve atresia Absent gallbladder Proximal muscle weakness Meckel diverticulum Duodenal stenosis Ureteropelvic junction obstruction Pulmonary insufficiency Hypoxemia Single umbilical artery Abnormal lung lobation Difficulty walking Hyperlordosis Atrioventricular canal defect Reduced tendon reflexes Esophageal varix Fetal akinesia sequence Exertional dyspnea Difficulty climbing stairs Myopathic facies Akinesia Limb-girdle muscular dystrophy Exercise intolerance Muscular dystrophy Decreased liver function Waddling gait Sudden cardiac death Ascites Hepatic failure Cirrhosis Limb muscle weakness Dilated cardiomyopathy Ectrodactyly Hypoplastic left heart Tubulointerstitial fibrosis Increased serum pyruvate Kyphoscoliosis Intrauterine growth retardation Abnormal facial shape Scoliosis Decreased activity of mitochondrial complex IV Caesarian section Decreased activity of mitochondrial complex I Severe lactic acidosis Camptodactyly Poor appetite Abnormality of mitochondrial metabolism Ragged-red muscle fibers Bradycardia Increased serum lactate Lactic acidosis Fatigue Thin upper lip vermilion Talipes Bilateral cryptorchidism Short umbilical cord Bicuspid aortic valve Pulmonary arterial hypertension Tetralogy of Fallot Cyanosis Apnea Respiratory distress Ventricular septal defect Abnormality of the diaphragm Joint contracture of the hand Thoracic kyphoscoliosis Preeclampsia Cardiorespiratory arrest Ankylosis Bilateral talipes equinovarus Congenital contracture Pterygium Adducted thumb Generalized edema Limb joint contracture Abnormality of epiphysis morphology Abnormality of the retinal vasculature Increased urinary potassium Abnormal choroid morphology Hypokalemic alkalosis Hypokalemic metabolic alkalosis Hypocalciuria Respiratory arrest Increased circulating renin level Chondrocalcinosis Hyperactive renin-angiotensin system Alkalosis Renal salt wasting Hypomagnesemia Hyperphosphatemia Hyperaldosteronism Polycythemia Hyperkalemia Renal potassium wasting Hyperchloriduria Rickets Camptodactyly of finger Hypotelorism Limitation of joint mobility Hypoplasia of the maxilla Nephropathy Downturned corners of mouth Pulmonic stenosis Corneal opacity Retinopathy Abnormal sclera morphology Arthralgia Osteopenia Proptosis Pes cavus Gait disturbance Abnormality of prostaglandin metabolism Impaired reabsorption of chloride Secondary hyperaldosteronism Polyuria Glomerulonephritis Hypertonia Postaxial foot polydactyly Hepatic cysts Pancreatic cysts Cystic renal dysplasia Tapetoretinal degeneration Congenital hepatic fibrosis Abnormality of the pancreas Right ventricular hypertrophy Occipital encephalocele Potter facies Multicystic kidney dysplasia Situs inversus totalis Large fontanelles Renal dysplasia Encephalocele Oligohydramnios Dandy-Walker malformation Meningoencephalocele Multiple glomerular cysts Hypercalcemia Growth hormone deficiency Hypercalciuria Hypokalemia Nephrocalcinosis Hypocalcemia Anorexia Dehydration Hypotension Premature birth Choroid plexus cyst Chest pain Generalized muscle weakness Muscle cramps Tachycardia Small for gestational age Abnormal liver parenchyma morphology Pancreatic dysplasia Abnormal biliary tract morphology Deviation of the 2nd finger


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