Hypertension, and Inguinal hernia

Diseases related with Hypertension and Inguinal hernia

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

Top matches:

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively.For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see {130000}.

EHLERS-DANLOS SYNDROME TYPE 2 Is also known as eds ii|eds2, formerly|eds ii, formerly|ehlers danlos syndrome, mitis type, formerly|ehlers danlos syndrome, mild classic type, formerly|ehlers-danlos syndrome, type ii, formerly

Related symptoms:

  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia
  • Gastroesophageal reflux


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 2

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Hypertension
  • Dilatation
  • Patent ductus arteriosus


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Other less relevant matches:

Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.

EHLERS-DANLOS SYNDROME TYPE 1 Is also known as eds i

Related symptoms:

  • Scoliosis
  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia


SOURCES: MESH ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 1

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF ) (summary by Coelho et al., 2012).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj|methylmalonic aciduria with homocystinuria, type cblj|cblj defects|cobalamin j defect

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).

ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hypertension and Inguinal hernia

Symptoms // Phenotype % cases
Hernia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Gastroesophageal reflux Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Portal hypertension Aortic aneurysm Cerebral atrophy Anemia Seizures Aortic dissection Atrial septal defect Respiratory distress Respiratory insufficiency Patent ductus arteriosus Congenital diaphragmatic hernia Bruising susceptibility Oligohydramnios Cholestasis Pes planus

Rare Symptoms - Less than 30% cases

Stroke Ascites Hip dysplasia Dilatation Elevated hepatic transaminase Ischemic stroke Scoliosis Cutis marmorata Pulmonic stenosis Generalized hypotonia Patent foramen ovale Recurrent infections Intrauterine growth retardation Failure to thrive Tachypnea Bile duct proliferation Hyperglycemia Right ventricular hypertrophy High forehead Hepatitis Intestinal malrotation Intellectual disability Abnormal cardiac septum morphology Hypertelorism Abnormal heart morphology Atrophic scars Coarctation of aorta Pulmonary arterial hypertension Abnormal oral cavity morphology Femoral hernia Peritonitis Varicose veins Soft skin Dermal atrophy Polydactyly Recurrent urinary tract infections Thin skin Retinal detachment Joint hyperflexibility Pectus carinatum Joint laxity Pectus excavatum Brachydactyly Bladder diverticulum Short stature Ventricular septal defect Short foot Stage 5 chronic kidney disease Large fontanelles Abnormality of the coagulation cascade Splenomegaly Small nail Prominent scalp veins Cutis marmorata telangiectatica congenita Chronic hepatic failure Congestive heart failure Abnormality of the skeletal system Hyperhomocystinemia Calcinosis cutis Hypersplenism Abnormality of the cerebral white matter Right atrial enlargement Severe global developmental delay Attention deficit hyperactivity disorder Syndactyly Encephalopathy Proximal muscle weakness Microcephaly Portal vein thrombosis Cavernous hemangioma Muscle weakness Hyperammonemia Ventricular hypertrophy Spastic diplegia Motor delay Hepatic failure Aplasia cutis congenita Decreased adenosylcobalamin Hyperactivity Decreased methylcobalamin Aplasia cutis congenita of scalp Myopathy Oligodactyly Progressive proximal muscle weakness Dystrophic toenail Calcinosis Prominent superficial veins Esophageal varix Decreased methionine synthase activity Right ventricular failure Mild microcephaly Diabetes mellitus Adducted thumb Ptosis Low-set ears Flexion contracture Macrocephaly Ventriculomegaly Diarrhea Renal insufficiency Immunodeficiency Narrow mouth Prominent nasal bridge Arthrogryposis multiplex congenita Hypotelorism Chronic diarrhea Arnold-Chiari malformation Steatorrhea Hearing impairment Shallow orbits Severe postnatal growth retardation Diastasis recti Breech presentation Recurrent hypoglycemia Cholestatic liver disease Hypochromic microcytic anemia Abnormality of the renal tubule Subcortical cerebral atrophy Hypochromic anemia Postprandial hyperglycemia Abnormal CNS myelination Neonatal asphyxia Abnormality of globe location Sensorineural hearing impairment Total absence of the pericardium Neonatal hypotonia Ureteral duplication Small for gestational age Gliosis Tetralogy of Fallot Cardiac arrest Hyperbilirubinemia Glycosuria Transposition of the great arteries Congenital hypothyroidism Exocrine pancreatic insufficiency Pulmonary artery stenosis Truncus arteriosus Single umbilical artery Horizontal ribs Prolonged partial thromboplastin time Interrupted aortic arch Colon perforation Aplasia/Hypoplasia of the gallbladder Congenital defect of the pericardium Hypoplastic tricuspid valve Double outlet left ventricle Pancreatic aplasia Hypoplasia of right ventricle Anterior pituitary agenesis Left-to-right shunt Perimembranous ventricular septal defect Neonatal insulin-dependent diabetes mellitus Microcolon Intermittent diarrhea Pancreatic hypoplasia Cervical ribs Biliary atresia Methylmalonic acidemia Abnormality of the liver Abnormal posturing Hypovolemia Coronary artery atherosclerosis Exertional dyspnea Abnormality of the sternum Aortic root aneurysm Hemoptysis Dilatation of the cerebral artery Subarachnoid hemorrhage Transient ischemic attack Peripheral arterial stenosis Left ventricular failure Pneumothorax Thoracic aortic aneurysm Dural ectasia Aortic regurgitation Abdominal aortic aneurysm Ascending aortic dissection Prenatal maternal abnormality Abnormality of connective tissue Carotid artery dilatation Descending thoracic aorta aneurysm Abnormality iris morphology Descending aortic dissection Paroxysmal dyspnea Cystic medial necrosis of the aorta Mitral valve prolapse Joint dislocation Bicuspid aortic valve Tall stature Abnormal heart valve morphology Limb undergrowth Hyperextensible skin Generalized joint laxity Cigarette-paper scars Cataract Myopia Thin upper lip vermilion Proteinuria Cleft lip Respiratory tract infection Narrow chest Oral cleft Full cheeks Renal hypoplasia Cardiomegaly Rhizomelia Short ribs Metaphyseal widening Glomerulonephritis Elevated serum creatinine Thoracic dysplasia Pes valgus Short iliac bones Chronic tubulointerstitial nephritis Retrognathia Arachnodactyly High, narrow palate Chest pain Hallux valgus Genu recurvatum Homocystinuria Interstitial pulmonary abnormality Deeply set eye Abnormality of the eye Cough Abnormality of eye movement Cirrhosis Hepatic steatosis Pancytopenia Abnormal lung morphology Decreased liver function Hypocalcemia Hypoalbuminemia Rickets Vitamin D deficiency Osteopenia Anasarca Vitamin A deficiency Small scrotum Micrognathia Cryptorchidism Thrombocytopenia Lethargy Neutropenia Aciduria Wide intermamillary distance Bell-shaped thorax Methylmalonic aciduria Hypoglycemia Vomiting Hypertonia Postaxial foot polydactyly Polyhydramnios Hepatosplenomegaly Pulmonary hypoplasia Renal cyst Dandy-Walker malformation Encephalocele Renal dysplasia Hepatic fibrosis Aortic valve stenosis Situs inversus totalis Multicystic kidney dysplasia Occipital encephalocele Abnormality of the pancreas High palate Biliary cirrhosis Congenital hepatic fibrosis Tapetoretinal degeneration Cystic renal dysplasia Pancreatic cysts Hepatic cysts Meningoencephalocele Potter facies Multiple glomerular cysts Choroid plexus cyst Abnormal biliary tract morphology Pancreatic dysplasia Abnormal liver parenchyma morphology Increased urinary sedoheptulose


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