Lymphoma, and Bilateral sensorineural hearing impairment

Diseases related with Lymphoma and Bilateral sensorineural hearing impairment

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

Top matches:

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998). See {276900} for clinical characterization of Usher syndrome types I, II, and III. Genetic Heterogeneity of Usher Syndrome Type IIUsher syndrome type II is genetically heterogeneous. USH2C (OMIM ) can be caused by mutation in the ADGRV1 gene (OMIM ) or by biallelic digenic mutation in the ADGRV1 and PDZD7 (OMIM ) genes. USH2D (OMIM ) is caused by mutation in the WHRN gene (OMIM ).The locus designation USH2B has been withdrawn; see HISTORY.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Blindness
  • Depressivity
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about USHER SYNDROME, TYPE IIA; USH2A

Medium match N SYNDROME

N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Neoplasm
  • Cryptorchidism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about N SYNDROME

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Other less relevant matches:

Medium match ATTRV30M AMYLOIDOSIS

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

Low match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match EEC SYNDROME

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.

ESSENTIAL THROMBOCYTHEMIA Is also known as thrombocytosis 1|essential thrombocytosis|et

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system
  • Respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about ESSENTIAL THROMBOCYTHEMIA

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Leukemia Cryptorchidism Ataxia Anemia Paresthesia Nystagmus Microcephaly Generalized hypotonia Headache Diarrhea Atrial septal defect Pain Abnormal facial shape Vasculitis Spasticity Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases

Dry skin Peripheral neuropathy Conductive hearing impairment Congestive heart failure Inflammatory abnormality of the eye Cardiomyopathy Dysarthria Failure to thrive High palate Wide nose Arrhythmia Gangrene Bilateral ptosis Venous thrombosis Pointed chin Thick vermilion border Retinal dystrophy Flexion contracture Hyporeflexia Hepatomegaly Mandibular prognathia Myelodysplasia Splenomegaly Hoarse voice Neutropenia Gastroesophageal reflux Abnormal heart morphology Depressed nasal tip Dyspnea Weight loss Oral cleft Cleft upper lip Microtia Cleft lip Polyneuropathy Micropenis Dilatation Arthritis Thin upper lip vermilion Renal insufficiency Muscular hypotonia Anteverted nares Pigmentary retinopathy Long philtrum Ptosis Depressed nasal bridge Epicanthus Wide nasal bridge Retinopathy Myopia Microphthalmia Optic atrophy Visual loss Edema Intellectual disability, severe Hyperactivity Visual impairment Blindness Hypospadias Renal dysplasia Recurrent urinary tract infections Sparse and thin eyebrow Hypohidrosis Hypogonadotrophic hypogonadism Abnormality of dental enamel Esophageal atresia Sparse eyelashes Cutaneous syndactyly Split hand Renal hypoplasia/aplasia Protruding tongue Choanal atresia Hypoplasia of dental enamel Postnatal microcephaly Fine hair Blepharitis Sparse pubic hair Dysuria Sparse axillary hair Generalized hypopigmentation Corneal erosion Fair hair Taurodontia Blue irides Tracheoesophageal fistula Split foot Xerostomia External ear malformation Coarse hair Ectrodactyly Hypoplastic nipples Aplasia/Hypoplasia of the thumb Abnormality of the sternum Aplasia/Hypoplasia of the skin Long palpebral fissure Hydroureter Keratitis Hypoplastic toenails Proximal placement of thumb Reduced number of teeth Sparse scalp hair Vesicoureteral reflux Microdontia Recurrent skin infections Cleft palate Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Combined immunodeficiency Glomerulonephritis Leukopenia Malar flattening Narrow palpebral fissure Lymphopenia Bronchiectasis Inflammatory abnormality of the skin Prominent fingertip pads Eczema Duplication of phalanx of hallux Sensory impairment Asthma Hemolytic anemia Erythema Unilateral ptosis Syndactyly Renal agenesis Carious teeth Growth hormone deficiency Ectodermal dysplasia Anterior hypopituitarism Nevus Inverted nipples Hypodontia Acute lymphoblastic leukemia Hypoplasia of the maxilla Thick eyebrow Widow's peak Retinal coloboma Toe syndactyly Polydactyly Nail dystrophy Finger syndactyly Congenital ptosis Blepharophimosis Sparse hair U-Shaped upper lip vermilion Facial edema Hydronephrosis Photophobia Small thenar eminence Hyperkeratosis Hypoplasia of the thymus Urethral stenosis Lacrimation abnormality Short neck Cerebral cortical atrophy Brachycephaly Posteriorly rotated ears Agenesis of corpus callosum Patent ductus arteriosus Abnormality of metabolism/homeostasis Midface retrusion Short nose Dystonia Ventriculomegaly Coarse facial features Motor delay Feeding difficulties Low-set ears Hypertelorism Bicuspid aortic valve Growth delay Increased megakaryocyte count Abnormal platelet aggregation Decreased mean platelet volume Abnormal platelet morphology Retrognathia Camptodactyly Myelofibrosis Spontaneous abortion Aortic valve stenosis Pachygyria Hypertrichosis Short palpebral fissure Low posterior hairline High myopia Webbed neck Bifid uvula Highly arched eyebrow Low anterior hairline Lissencephaly Feeding difficulties in infancy Everted lower lip vermilion Iris coloboma Smooth philtrum Arthrogryposis multiplex congenita Broad forehead Coloboma Wide mouth Joint stiffness Abnormality of the pinna Postnatal growth retardation Bloody diarrhea Abnormality of bone marrow cell morphology Entropion Chorioretinal coloboma Generalized microdontia Periorbital hyperpigmentation Transverse vaginal septum Mesoaxial polydactyly Abnormality of the inner ear Aplasia/Hypoplasia of the breasts Megacystis Urethral atresia Dacryocystitis Ureterocele Abnormality of the middle ear Absence of Stensen duct Nail pits Abnormality of the nasopharynx Duplicated collecting system Thin nail Heterotopia Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Aplasia/Hypoplasia of the nipples Slow-growing hair Overfolded helix Hypertension Amaurosis fugax Redundant skin Myeloproliferative disorder Impaired platelet aggregation Abnormal thrombocyte morphology Arterial thrombosis Abnormality of the cerebral vasculature Acute leukemia Acrocyanosis Transient ischemic attack Abnormality of the outer ear Thrombocytosis Pulmonary embolism Respiratory distress Myeloid leukemia Prolonged bleeding time Leukocytosis Trigonocephaly Myocardial infarction Chest pain Bruising susceptibility Ectropion Vertigo Hepatosplenomegaly Respiratory tract infection Meningitis Abnormality of the nervous system Underdeveloped supraorbital ridges Abnormal nasolacrimal system morphology Prominent nasal tip Congenital microcephaly Retinal fold Chylothorax Leukonychia Retinal dysplasia Abnormal toenail morphology Vitreoretinopathy Abnormal eyelash morphology Cellulitis Panniculitis Chorioretinal atrophy Cortical gyral simplification Agitation Flat occiput Anophthalmia Scaling skin Patent foramen ovale Deep philtrum Optic nerve hypoplasia Muscle stiffness Erysipelas Retinal thinning Lymphedema Dementia Hypotension Migraine Urinary incontinence Gliosis Coma Nephropathy Peripheral axonal neuropathy Paraplegia Malabsorption Facial palsy Constipation Exudative vitreoretinopathy Areflexia Vomiting Hydrocephalus Tremor Fever Muscle weakness Chorioretinal lacunae Melanonychia Myopic astigmatism Chorioretinal dysplasia Skin ulcer Abnormality of retinal pigmentation Peripheral demyelination Megalocornea Hypertonia Hypoplasia of the corpus callosum Downslanted palpebral fissures Cataract Micrognathia T-cell lymphoma/leukemia Abnormal eye morphology Abnormality of chromosome stability Chromosome breakage Abnormal eyelid morphology Neoplasm Severe short stature Mild hearing impairment Severe sensorineural hearing impairment Hodgkin lymphoma Severe hearing impairment Vestibular dysfunction Congenital sensorineural hearing impairment Progressive hearing impairment Nyctalopia Rod-cone dystrophy Depressivity Intellectual disability, mild Prominent forehead Amblyopia Sleep disturbance Thickened skin Subcutaneous nodule Thick lower lip vermilion Status epilepticus Sloping forehead Overgrowth Specific learning disability Full cheeks Broad nasal tip Microcornea Retinal detachment Upslanted palpebral fissure Astigmatism Hypermetropia Corneal opacity Attention deficit hyperactivity disorder Protruding ear Aggressive behavior Neonatal hypotonia Rigidity Macrotia Reduced visual acuity Glaucoma Neuronal loss in central nervous system Cardiomegaly Myoclonus Skin rash Joint dislocation Conjunctivitis Recurrent bacterial infections Ascites Sensory neuropathy Hematuria Lymphadenopathy Nausea and vomiting Pruritus Cough Autoimmunity Cerebral palsy Proteinuria Myalgia Arthralgia Abdominal pain Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Sideroblastic anemia Abnormality of the basal ganglia Abdominal situs inversus Cranial nerve paralysis Reduced tendon reflexes Macrocytic anemia Complement deficiency Recurrent respiratory infections Recurrent infections Immunodeficiency Brachydactyly Cognitive impairment Scoliosis Small vessel vasculitis Obstructive lung disease Episcleritis Immunologic hypersensitivity Angioedema Urticaria Uveitis Irregular hyperpigmentation Hemoptysis Glomerulopathy Abnormal heart valve morphology Pericardial effusion Restrictive ventilatory defect Emphysema Hemiplegia/hemiparesis Nephritis Pleural effusion Megaloblastic anemia Secondary amenorrhea Hemiparesis Axonal degeneration Myelopathy Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Aphasia Sensory ataxia Malnutrition Impotence Cerebral hemorrhage Rheumatoid arthritis Cachexia Atrioventricular block Spastic paraparesis Paraparesis Abnormal autonomic nervous system physiology Hallucinations Abnormal renal physiology Urinary retention Hyperglycemia Retinal degeneration Polycystic ovaries Cone/cone-rod dystrophy Aminoaciduria Cardiac arrest Situs inversus totalis Anorexia Pancytopenia Amenorrhea Abnormality of the skin Aciduria Lethargy Psychomotor deterioration Stroke Abnormal cardiac septum morphology Pallor Hypoglycemia Diabetes mellitus Thrombocytopenia Ventricular septal defect Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Small posterior fossa


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