Hypertension, and Bilateral sensorineural hearing impairment

Diseases related with Hypertension and Bilateral sensorineural hearing impairment

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

Top matches:

Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (OMIM ). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (OMIM ) is rare (van der Loop et al., 2000).See also benign familial hematuria (BFH ), a similar but milder disorder.

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ALPORT SYNDROME

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Other less relevant matches:

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999).Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance (OMIM ) is rare (Kashtan, 1999).See also benign familial hematuria (BFH ), a phenotypically similar, but milder disorder.Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (OMIM ) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME ).

ALPORT SYNDROME, X-LINKED; ATS Is also known as nephropathy and deafness, x-linked

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME, X-LINKED; ATS

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Medium match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (Webb et al., 2017). Genetic Heterogeneity of Townes-Brocks SyndromeTownes-Brocks syndrome-2 (TBS2 ) is caused by mutation in the DACT1 gene (OMIM ) on chromosome 14q23.

TOWNES-BROCKS SYNDROME 1; TBS1 Is also known as deafness, sensorineural, with imperforate anus and thumb anomalies|anus, imperforate, with hand, foot, and ear anomalies|renal-ear-anal-radial syndrome|rear syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TOWNES-BROCKS SYNDROME 1; TBS1

Medium match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Top 5 symptoms//phenotypes associated to Hypertension and Bilateral sensorineural hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Bilateral sensorineural hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Renal insufficiency Seizures Ptosis Congestive heart failure Hypothyroidism Umbilical hernia Hernia Abnormality of the kidney Proteinuria Retinopathy Glomerulopathy Progressive sensorineural hearing impairment Dysphagia Dyspnea Congenital cataract Microcephaly Diabetes mellitus Arrhythmia Abnormal facial shape Cardiomyopathy Low-set ears Hepatomegaly Abnormality of the skeletal system Vomiting Stage 5 chronic kidney disease Nephrotic syndrome Anemia Visual loss Myopia

Rare Symptoms - Less than 30% cases

Respiratory distress Cryptorchidism Midface retrusion Tubulointerstitial nephritis Hypoparathyroidism Chronic kidney disease Ichthyosis Short stature Photophobia Pain Weight loss Abdominal pain Headache Edema Dilatation Fatigue Polycystic kidney dysplasia Abnormality of the liver Gastroesophageal reflux Abnormality of the pinna Craniosynostosis Anal atresia Overlapping toe Splenomegaly Growth abnormality Wide mouth Protruding ear Downslanted palpebral fissures Macrotia Hirsutism Polydactyly Muscular hypotonia Tracheoesophageal fistula Hypopigmented skin patches Apnea Anxiety Clinodactyly Syndactyly Hypoplasia of the corpus callosum Respiratory insufficiency Ventricular septal defect Macrocephaly Generalized hirsutism Failure to thrive Hyperreflexia High palate Cognitive impairment Strabismus Hypertelorism Ileus Aortic aneurysm Hypertrichosis Redundant skin Overgrowth Osteoporosis Gingival overgrowth Hypospadias Brachydactyly Vesicoureteral reflux Bifid scrotum Myopathy Aplasia/Hypoplasia of the cerebellum Ragged-red muscle fibers External ophthalmoplegia Type II diabetes mellitus Pigmentary retinopathy Vertigo Malabsorption Fever Ophthalmoplegia Hypertrophic cardiomyopathy Myalgia Recurrent infections Vestibular dysfunction Optic atrophy Pneumonia Acidosis Dysarthria Pallor Visual impairment Muscle weakness Ataxia Pancytopenia Leukopenia Recurrent urinary tract infections Bundle branch block Constipation Anterior lenticonus Diffuse glomerular basement membrane lamellation Nephritis Microscopic hematuria Corneal erosion Thickening of the glomerular basement membrane Growth delay Macular dystrophy Hematuria Mental deterioration Autism Carious teeth Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Pruritus Dilated cardiomyopathy Neurological speech impairment 2-3 toe syndactyly Stroke Attention deficit hyperactivity disorder Jaundice Abnormality of acid-base homeostasis Episodic quadriplegia Anal stenosis Homonymous hemianopia Delayed puberty Nyctalopia Erythema Developmental regression EEG abnormality Feeding difficulties in infancy Nausea and vomiting Peripheral axonal neuropathy Dysmetria Sudden cardiac death Abnormality of the cardiovascular system Cerebral calcification Amenorrhea Specific learning disability Preaxial hand polydactyly Hip dysplasia Preauricular pit Memory impairment Increased serum lactate Migraine Sensory impairment Generalized myoclonic seizures Paresthesia Abnormal cerebellum morphology Muscle cramps Postural instability Coma Polyneuropathy Nephropathy Polymicrogyria Nausea Lactic acidosis Bilateral intracranial calcifications Confusion Truncus arteriosus Hypogonadism Gait ataxia Motor delay Diarrhea Cerebellar atrophy Urethral valve Blindness Short neck Ventriculomegaly Gait disturbance Tremor Skeletal muscle atrophy Peripheral neuropathy 3-4 toe syndactyly Feeding difficulties Abnormality of the dentition Overfolding of the superior helices Nystagmus Metatarsal synostosis Pseudoepiphyses of second metacarpal Satyr ear Aplasia/Hypoplasia of the 3rd toe 2-4 finger syndactyly Stahl ear Prominent scrotal raphe Pulmonary valve atresia Bilateral triphalangeal thumbs Bifid uterus Hypertonia Duodenal atresia Hyporeflexia Cerebral cortical atrophy Rectoperineal fistula Myoclonus Dementia Rod-cone dystrophy Rectovaginal fistula Duane anomaly Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Epibulbar dermoid Areflexia Dystonia Clinodactyly of the 5th toe Pulmonary arterial hypertension Partial duplication of thumb phalanx Radial club hand 3-4 finger syndactyly Encephalopathy Depressivity Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Cerebral atrophy Kyphosis Generalized-onset seizure Writer's cramp Status epilepticus Abnormality of visual evoked potentials Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Abnormal nerve conduction velocity Renal Fanconi syndrome Mitochondrial myopathy Heart block Xerostomia Vitiligo Neonatal hypoglycemia Tubulointerstitial abnormality Psychotic episodes Hashimoto thyroiditis Cardiorespiratory arrest Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Vertebral fusion Multiple lipomas Prolonged QT interval Delusions Facial diplegia Hyperkalemia Auditory hallucinations Persistence of primary teeth Psychomotor deterioration Dysesthesia Leber optic atrophy Motor polyneuropathy Episodic vomiting Spontaneous hematomas Abnormality of the renal tubule Gastroparesis Hemianopia Proximal tubulopathy Amaurosis fugax Abnormality of peripheral nerve conduction Aortic dissection Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Renal tubular dysfunction Visual field defect Dysphasia Psychosis Progressive night blindness Truncal ataxia Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Cardiac arrest Cochlear malformation Clonus Cochlear degeneration Hypogonadotrophic hypogonadism Cerebral visual impairment Hallucinations Abnormal mitochondrial shape Paralytic ileus Muscle fiber atrophy Anorexia Left ventricular hypertrophy Abnormal cochlea morphology Decreased body weight Involuntary movements Hemiparesis Atrial fibrillation Ventricular hypertrophy EMG abnormality Type I diabetes mellitus Aphasia Bilateral ptosis Adrenal insufficiency Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Intestinal obstruction Overfolded helix Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Hemiplegia Hypercalciuria Exercise intolerance Decreased nerve conduction velocity Cachexia Atrioventricular block Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Ischemic stroke Reduced tendon reflexes Pancreatitis Macular degeneration Purpura Abnormality of retinal pigmentation Thick vermilion border Chorioretinal coloboma Uterine neoplasm Hip dislocation Joint laxity Arthralgia Recurrent respiratory infections Inguinal hernia Pectus excavatum Cylindruria Morphological abnormality of the semicircular canal Lentiglobus Diffuse leiomyomatosis Neoplasm of the colon Lenticonus Joint hyperflexibility Macroscopic hematuria Periorbital edema Elliptocytosis Abdominal situs inversus Foam cells Edema of the lower limbs Tinnitus Corneal dystrophy Subcutaneous nodule Dry skin Thrombocytopenia Splenic cyst Pulmonic stenosis Arachnodactyly Pancreatic cysts Pulmonary artery stenosis Bowel diverticulosis Arterial fibromuscular dysplasia Supravalvular aortic stenosis Congenital hemolytic anemia Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Arterial stenosis Bladder diverticulum Cor pulmonale Atelectasis Premature skin wrinkling Shawl scrotum Hemolytic anemia Prematurely aged appearance Delayed cranial suture closure Emphysema Epiphyseal dysplasia Shock Cutis laxa Wormian bones Abnormality of the face Congenital diaphragmatic hernia Oligohydramnios Full cheeks Recurrent fractures Pancreatic hypoplasia Cystic renal dysplasia Frontal bossing Anisocytosis Abnormal retinal morphology Hyperglycemia Constriction of peripheral visual field Retinal degeneration Unsteady gait Thiamine-responsive megaloblastic anemia Decreased methylcobalamin Septic arthritis Asthenia Folate deficiency Hemolytic-uremic syndrome Megaloblastic anemia Abnormality of lipid metabolism Antinuclear antibody positivity Severe combined immunodeficiency Thrombocytosis Macrocytic anemia Combined immunodeficiency Lymphopenia Decreased antibody level in blood Metabolic acidosis Autoimmunity Arthritis Immunodeficiency Intellectual disability, mild Retinal atrophy Left bundle branch block Sagittal craniosynostosis Hepatitis Buphthalmos Esophageal varix Thoracolumbar scoliosis Hiatus hernia Enlarged kidney Congenital hypothyroidism Congenital glaucoma Portal hypertension Wide anterior fontanel Hepatic fibrosis Cholestasis Choanal atresia Sepsis Abnormal chorioretinal morphology Renal cyst Cirrhosis Hyperlordosis Thin upper lip vermilion Osteopenia Respiratory failure Glaucoma Long philtrum Atrial septal defect Intrauterine growth retardation Epicanthus Depressed nasal bridge Renal diverticulum Anteverted nares Triphalangeal thumb Hemangioma Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Broad ribs Protruding tongue Aortic root aneurysm Pericardial effusion Anonychia Large for gestational age Metaphyseal widening Spina bifida occulta Hyperextensibility of the finger joints Accelerated skeletal maturation Intellectual disability, progressive Hemivertebrae Thickened skin Nephrolithiasis Thick lower lip vermilion Small nail Intellectual disability, profound Macroglossia Delayed eruption of teeth Short distal phalanx of finger Thick eyebrow Gingival fibromatosis Cavernous hemangioma Joint hypermobility Facial asymmetry Preaxial polydactyly Short metatarsal Abnormality of the outer ear Microretrognathia Multicystic kidney dysplasia Preauricular skin tag Abnormal vertebral morphology Short thumb Renal dysplasia Broad thumb Renal hypoplasia Tetralogy of Fallot Toe syndactyly Biliary atresia Small for gestational age Microtia Coloboma Abnormal heart morphology Abnormality of cardiovascular system morphology Micrognathia Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Bulbous nose Synophrys Hydrocephalus Bradycardia Hypopigmentation of hair Tarsal synostosis Hypermelanotic macule Broad hallux Short middle phalanx of finger Radial deviation of finger Cone-shaped epiphysis Trigonocephaly Increased intracranial pressure Acanthosis nigricans Plagiocephaly Low anterior hairline Epidermal acanthosis Carpal synostosis Febrile seizures Dental malocclusion Hypopigmentation of the skin Short foot High, narrow palate Short palm Abnormal cardiac septum morphology Autistic behavior Proptosis Brachycephaly Prominent forehead Malar flattening Esophageal atresia Coronal craniosynostosis Broad forehead Unicoronal synostosis Hepatosplenomegaly Coarse facial features Polyhydramnios Mandibular prognathia Posteriorly rotated ears Patent ductus arteriosus Intellectual disability, severe Wide nasal bridge Scoliosis Generalized hypotonia Thimble-shaped middle phalanges of hand Low-frequency sensorineural hearing impairment Short middle phalanx of toe Cone-shaped epiphyses of the phalanges of the hand Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Parietal foramina Lambdoidal craniosynostosis Abnormality of the head Anterior plagiocephaly Oxycephaly Aqueductal stenosis Upper airway obstruction Prominent ear helix


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