Hearing impairment, and Myocardial infarction

Diseases related with Hearing impairment and Myocardial infarction

In the following list you will find some of the most common rare diseases related to Hearing impairment and Myocardial infarction that can help you solving undiagnosed cases.

Top matches:

Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by Divisato et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see {167250}.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Recurrent fractures


SOURCES: OMIM MENDELIAN

More info about PAGET DISEASE OF BONE 6; PDB6

Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss (Alport, 1927). 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 (OMIM ); autosomal dominant inheritance is rare (van der Loop et al., 2000).Also see benign familial hematuria (BFH ), a similar but milder disorder also caused by mutation in the COL4A3 gene.An autosomal dominant disorder sharing the clinical features of Alport syndrome but with the addition of macrothrombocytopenia, known as Fechtner syndrome (OMIM ), is caused by mutation in the MYH9 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension
  • Myopia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about ALPORT SYNDROME, AUTOSOMAL DOMINANT

Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). Genetic Heterogeneity of Arterial CalcificationGeneralized arterial calcification of infancy-2 (GACI2 ) is caused by mutation in the ABCC6 gene (OMIM ) on chromosome 16p13.Homozygous or compound heterozygous mutation in the NT5E gene (OMIM ) can cause adult-onset of calcification of arteries and joints (OMIM ).

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 Is also known as iiac|idiopathic infantile arterial calcification|gaci|arteriopathy, occlusive infantile|arterial calcification, idiopathic infantile

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Hypertension
  • Respiratory distress


SOURCES: OMIM MENDELIAN

More info about ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1

Other less relevant matches:

Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to be comprised of 4 distinct entities with overlapping features: Fechtner syndrome, May-Hegglin anomaly, Epstein syndrome, and Sebastian syndrome. Fechtner syndrome was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes, with the additional Alport syndrome (OMIM )-like features of nephritis, hearing loss, and eye abnormalities, predominantly cataracts (Peterson et al., 1985). May-Hegglin anomaly was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. Epstein syndrome was characterized by thrombocytopenia, deafness, and nephritis, and lacked leukocyte inclusion bodies on classic staining of peripheral blood smears. Sebastian syndrome was similar to May-Hegglin anomaly, but had a different ultrastructural appearance of the leukocyte inclusions. Seri et al. (2003) suggested that these 4 disorders were not distinct entities, but rather represented a single disorder with a continuous clinical spectrum because variable phenotypic expression is observed not only between families but also within families having the same MYH9 mutation. In addition, Balduini et al. (2011) noted that all patients present leukocyte inclusion bodies, although of variable size. Seri et al. (2003) proposed the term 'MYH9-related disease' for the disorder; however, an isolated form of nonsyndromic deafness (DFNA17 ) is also caused by mutation in the MYH9 gene.

MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS Is also known as may-hegglin anomaly|apsm, formerly|macrothrombocytopenia, nephritis, and deafness|fechtner syndrome|alport syndrome with macrothrombocytopenia, formerly|macrothrombocytopenia with dispersed leukocytic inclusions|bleeding disorder, platelet-type, 6|macroth

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Gait disturbance
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010). Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without AnosmiaOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 (OMIM ), caused by mutation in the PROKR2 gene (OMIM ); HH4 (OMIM ), caused by mutation in the PROK2 gene (OMIM ); HH5 (OMIM ), caused by mutation in the CHD7 gene (OMIM ); HH6 (OMIM ), caused by mutation in the FGF8 gene (OMIM ); HH7 (OMIM ), caused by mutation in the GNRHR gene (OMIM ); HH8 (OMIM ), caused by mutation in the KISS1R gene (OMIM ); HH9 (OMIM ), caused by mutation in the NELF gene (OMIM ); HH10 (OMIM ), caused by mutation in the TAC3 gene (OMIM ); HH11 (OMIM ), caused by mutation in the TACR3 gene (OMIM ); HH12 (OMIM ), caused by mutation in the GNRH1 gene (OMIM ); HH13 (OMIM ), caused by mutation in the KISS1 gene (OMIM ); HH14 (OMIM ), caused by mutation in the WDR11 gene (OMIM ); HH15 (OMIM ), caused by mutation in the HS6ST1 gene (OMIM ); HH16 (OMIM ), caused by mutation in the SEMA3A gene (OMIM ); HH17 (OMIM ), caused by mutation in the SPRY4 gene (OMIM ); HH18 (OMIM ), caused by mutation in the IL17RD gene (OMIM ); HH19 (OMIM ), caused by mutation in the DUSP6 gene (OMIM ); HH20 (OMIM ), caused by mutation in the FGF17 gene (OMIM ); HH21 (OMIM ), caused by mutation in the FLRT3 gene (OMIM ); HH22 (OMIM ), caused by mutation in the FEZF1 gene (OMIM ); HH23 (OMIM ), caused by mutation in the LHB gene (OMIM ); and HH24 (OMIM ), caused by mutation in the FSHB gene (OMIM ).There is also an X-linked form of the disorder (HH1 ), caused by mutation in the KAL1 gene (OMIM ).There is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by Chan, 2011). Sykiotis et al. (2010), for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.To assess oligogenicity in hypogonadotropic hypogonadism, Miraoui et al. (2013) analyzed 350 HH probands of European descent for mutation in 17 HH-associated genes. Mutations were identified in 124 (35%) of the probands, and 24 (19%) of the mutation-positive probands carried at least 2 mutant alleles from different genes. Miraoui et al. (2013) noted that 23 of the 24 oligogenic cases involved at least 1 gene associated with the fibroblast growth factor (FGF) network (see {601513}).Dode et al. (2006) stated that loss-of-function mutations in the KAL1 (OMIM ) and FGFR1 genes account for approximately 20% of all cases of Kallmann syndrome and that mutations in the PROKR2 and PROK2 genes account for an additional 10%.Gurbuz et al. (2012) reviewed all causative mutations detected in multiplex families with normosmic hypogonadotropic hypogonadism over a 7-year period in Turkey. Mutations that segregated with disease were identified in 17 (77.2%) of 22 families studied, including mutations of the GNRHR gene in 7 (31.8%) of the families, TACR3 in 6 (27.2%), KISSR in 2 (9%), TAC3 in 1 (4.5%), and KISS1 in 1 (4.5%). Inheritance was autosomal recessive in all 17 families.Valdes-Socin et al. (2014) reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 Is also known as kallmann syndrome 2|kal2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2

Medium match CRANIOPHARYNGIOMA

Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

Medium match POLYCYTHEMIA VERA

Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.

POLYCYTHEMIA VERA Is also known as polycythemia rubra vera|acquired primary erythrocytosis|prv|vaquez disease|osler-vaquez disease|pv

Related symptoms:

  • Neoplasm
  • Visual impairment
  • Hypertension
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about POLYCYTHEMIA VERA

Medium match KAWASAKI DISEASE

Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

Medium match ALKAPTONURIA

Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).

ALKAPTONURIA Is also known as homogentisic acid oxidase deficiency|hereditary ochronosis

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hypertension
  • Kyphosis
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ALKAPTONURIA

Medium match CADASIL

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Top 5 symptoms//phenotypes associated to Hearing impairment and Myocardial infarction

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
Vertigo Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Myocardial infarction. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Fatigue Pain Cerebral ischemia Arthralgia Proteinuria Hematuria

Rare Symptoms - Less than 30% cases

Thrombocytopenia Hypogonadotrophic hypogonadism Behavioral abnormality Vomiting Seizures Thromboembolism Delayed puberty Amenorrhea Bruising susceptibility Arrhythmia Intellectual disability Abnormal thrombosis Epistaxis Recurrent infections Gastrointestinal hemorrhage Hypogonadism Coma Hypoglycemia Erythema Arthritis Cranial nerve paralysis Fever Abnormal heart valve morphology Leukocytosis Cerebral hemorrhage Stroke Abdominal pain Nausea and vomiting Visual impairment Cognitive impairment Abnormality of the eye Atherosclerosis Coronary artery calcification Nausea Confusion Gait disturbance Hypopituitarism Migraine Congestive heart failure Renal insufficiency Coronary artery atherosclerosis Growth abnormality Nephrocalcinosis Nephritis Hypophosphatemia Microscopic hematuria Nephrolithiasis Ankylosis Stage 5 chronic kidney disease Left ventricular hypertrophy Short stature Macrothrombocytopenia Osteoarthritis Vertebral fusion Aseptic leukocyturia Kyphosis Retinal arteriolar tortuosity Abnormal gallbladder morphology Joint swelling Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Strawberry tongue Abnormality of metabolism/homeostasis Abnormal emotion/affect behavior Hearing abnormality Subcortical dementia Pyuria Irregular hyperpigmentation Abnormality of skin pigmentation Arthropathy Joint stiffness Abnormality of the ear Aciduria Blue sclerae Abnormality of the nail Aminoaciduria Arthralgia/arthritis Abnormal joint morphology Reduced bone mineral density Abnormality of vision Abnormality of the urinary system Back pain Aortic aneurysm Hyperparathyroidism Joint dislocation Abulia Abnormality of nail color Hyponatremia Tubulointerstitial nephritis Aortic root aneurysm Acute kidney injury Pericarditis Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Scaling skin Allergy Hypoalbuminemia Ischemic stroke Scintillating scotoma Conjunctivitis Vasculitis Meningitis Decreased liver function Myocarditis Abnormal myocardium morphology Coronary artery aneurysm Recurrent subcortical infarcts Focal sensory seizure Cervical lymphadenopathy CSF pleocytosis Conjunctival hyperemia Abnormal pericardium morphology Arteritis Glossitis Abnormal oral mucosa morphology Recurrent pharyngitis Cholecystitis Nonarteritic anterior ischemic optic neuropathy Ascending tubular aorta aneurysm Synovitis Cheilitis Elevated C-reactive protein level Inflammatory abnormality of the eye Abnormality of the nose Hemiplegia Diffuse leukoencephalopathy Optic neuropathy Impaired pain sensation Tetraplegia Sensory neuropathy Inability to walk Dysmetria Lower limb muscle weakness Abnormality of eye movement Generalized tonic-clonic seizures Urinary incontinence Attention deficit hyperactivity disorder Pallor Developmental regression Mental deterioration Facial palsy EEG abnormality Cerebral cortical atrophy Dementia Brain atrophy Abnormality of the skin Abnormality of visual evoked potentials Aphasia Leukoencephalopathy Shock Spastic tetraparesis Apathy Recurrent pneumonia Truncal ataxia Personality changes Scotoma Memory impairment Hemiparesis Tetraparesis Psychosis Bulbar palsy Abnormality of extrapyramidal motor function Amyloidosis Bradykinesia Peripheral demyelination Babinski sign Elevated serum creatine phosphokinase Amaurosis fugax Pseudobulbar paralysis Thickened Achilles tendon Migraine with aura Tendon rupture Prostatitis Cartilage destruction Abnormality of nervous system morphology Calcification of cartilage Perseveration Tendonitis Intervertebral disc degeneration Mitral valve calcification Aortic valve calcification Mania Dark urine Chronic pain Low back pain Abnormal electroretinogram Intervertebral disk calcification Pigmentation of the sclera Visual loss Dysarthria Encephalopathy Depressivity Hypertonia Transient ischemic attack Myopathy Dysphagia Tremor Hyperreflexia Ochronosis Varicose veins Peripheral neuropathy Delayed speech and language development Spasticity Muscle weakness Cholestasis Ataxia Stroke-like episode Subcutaneous hemorrhage Gingival bleeding Mitral regurgitation Moderate proteinuria Osteopenia Micropenis Agenesis of corpus callosum Clinodactyly Abnormality of cardiovascular system morphology Cryptorchidism Cleft palate Leukocyte inclusion bodies Cleft lip Bifid clitoris Exstrophy Bladder exstrophy Giant platelets Impaired platelet aggregation Ecchymosis Single umbilical artery Abnormality of the nervous system Coloboma Menorrhagia Gynecomastia Gonadotropin deficiency Hyposmia Ectrodactyly Unilateral renal agenesis Reduced number of teeth Anosmia Holoprosencephaly Choanal atresia Cleft upper lip Primary amenorrhea Coarctation of aorta Hypotelorism Renal agenesis Vesicoureteral reflux Iris coloboma Oral cleft Prolonged bleeding time Spastic gait Microphallus Azotemia Papule Conductive hearing impairment Pneumonia Respiratory distress Failure to thrive Diffuse glomerular basement membrane lamellation Lenticonus Thickening of the glomerular basement membrane Cyanosis Anterior polar cataract Glomerulonephritis Nephrotic syndrome Myopia Elevated alkaline phosphatase Bone pain Recurrent fractures Genu valgum Ventricular hypertrophy Bilateral sensorineural hearing impairment Vascular calcification Paraplegia Congenital cataract Spastic paraplegia Cataract Periarticular calcification Generalized arterial calcification Arterial calcification Coronary artery stenosis Glomerulosclerosis Angioid streaks of the fundus Arteriosclerosis Otosclerosis Arterial stenosis Endocardial fibroelastosis Hypophosphatemic rickets Pericardial effusion Rickets Prostate cancer Bimanual synkinesia Hepatitis Myelodysplasia Arterial thrombosis Angina pectoris Deep venous thrombosis Acute leukemia Thrombocytosis Pulmonary embolism Polycythemia Portal hypertension Myelofibrosis Tinnitus Venous thrombosis Pruritus Leukemia Weight loss Splenomegaly Respiratory insufficiency Myeloproliferative disorder Intermittent claudication Abnormality of the frontal bone Edema Lymphadenopathy Skin rash Respiratory tract infection Irritability Jaundice Dilatation Diarrhea Ptosis Erythroid hyperplasia Elevated leukocyte alkaline phosphatase Increased megakaryocyte count Increased red blood cell mass Budd-Chiari syndrome Increased hematocrit Increased hemoglobin Portal vein thrombosis Hepatomegaly Abnormality of the nasal bone Global developmental delay Lethargy Increased intracranial pressure Sleep apnea Increased body weight Type II diabetes mellitus Cerebral calcification Hypotension Sleep disturbance Postnatal growth retardation Diabetes insipidus Anxiety Hypothyroidism Constipation Obesity Hydrocephalus Optic atrophy Growth delay Increased susceptibility to fractures Impotence Abnormal hypothalamus morphology Bitemporal hemianopia Neoplasm of the anterior pituitary Intracranial cystic lesion Abnormal visual field test Craniopharyngioma Progressive visual field defects Enlarged pituitary gland Slow decrease in visual acuity Sudden loss of visual acuity Polyphagia Central adrenal insufficiency Central diabetes insipidus Pituitary hypothyroidism Excessive daytime somnolence Prolactin excess Papilledema Proportionate short stature Orthostatic hypotension Subdural hemorrhage


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