Anemia, and Bilateral sensorineural hearing impairment

Diseases related with Anemia and Bilateral sensorineural hearing impairment

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


Top matches:

Medium match JERVELL AND LANGE-NIELSEN SYNDROME


Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.

JERVELL AND LANGE-NIELSEN SYNDROME Is also known as long qt interval-deafness syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Diarrhea
  • Sudden cardiac death
  • Syncope


SOURCES: OMIM ORPHANET MENDELIAN

More info about JERVELL AND LANGE-NIELSEN SYNDROME

Medium match DEAFNESS-INFERTILITY SYNDROME


Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

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

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Other less relevant matches:

Medium match COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH


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

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


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

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


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 COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Low match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low 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 Anemia and Bilateral sensorineural hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Ptosis Ataxia Short stature Failure to thrive Intellectual disability, mild Amenorrhea Vomiting Acidosis Fever Polyneuropathy Stroke Pancytopenia Hypertension Diabetes mellitus Hypothyroidism Congestive heart failure Arrhythmia Visual loss Cardiomyopathy Nystagmus Microcephaly Generalized hypotonia Motor delay Hepatomegaly Gait disturbance Proteinuria Hypertrophic cardiomyopathy Lactic acidosis Cryptorchidism Respiratory distress Hyperreflexia Progressive sensorineural hearing impairment Diarrhea Hypogonadism Cardiac arrest Growth delay

Rare Symptoms - Less than 30% cases


Nephropathy Headache Atrial septal defect Ventricular septal defect Muscle weakness Cataract Dyspnea Cognitive impairment Renal Fanconi syndrome Glomerulopathy Progressive peripheral neuropathy Abnormal heart morphology Dysarthria Skeletal muscle atrophy Fatigue Myoclonus Cerebellar atrophy Renal insufficiency Cerebral atrophy Encephalopathy Elevated serum creatine phosphokinase Renal tubular dysfunction Apnea Postural instability Gastroesophageal reflux Muscle cramps Hyperglycemia Focal segmental glomerulosclerosis Full cheeks Ophthalmoparesis Recurrent fractures Joint hyperflexibility Aortic aneurysm Osteoporosis Hypertelorism Hernia Malabsorption Abnormal facial shape Ventriculomegaly Ragged-red muscle fibers Overgrowth Exercise intolerance Hypergonadotropic hypogonadism Delayed skeletal maturation Anorexia Status epilepticus Nephrotic syndrome Aciduria Ileus Paresthesia Lethargy Specific learning disability Abnormal cardiac septum morphology Memory impairment Aminoaciduria Increased CSF lactate Pigmentary retinopathy Delayed puberty Metabolic acidosis Retinopathy Hypertrichosis Pallor Pneumonia Gingival overgrowth Hypospadias Macrocytic anemia Visual impairment Spasticity Azoospermia Brachydactyly Prolonged QT interval Vestibular dysfunction Sudden cardiac death Recurrent urinary tract infections Type I diabetes mellitus Megaloblastic anemia Ichthyosis Abnormal pyramidal sign Developmental regression Thiamine-responsive megaloblastic anemia Rod-cone dystrophy Weight loss Hemiparesis Pain Feeding difficulties Left ventricular hypertrophy Peripheral neuropathy Decreased body weight Involuntary movements Autism Tremor Dysphagia Abnormality of the liver Atrial fibrillation Respiratory insufficiency Ventricular hypertrophy Psychosis Pulmonary arterial hypertension Short neck Blindness Type II diabetes mellitus Myopathy Muscular hypotonia Abnormality of retinal pigmentation Generalized-onset seizure Erythema Protruding ear Hyperplasia of the maxilla Corneal arcus Generalized lymphadenopathy Myelofibrosis Facial telangiectasia Panniculitis Episcleritis Jaundice Seborrheic keratosis Snoring Stiff skin Cervical lymphadenopathy Bilateral camptodactyly Clonus Cerebral visual impairment Hallucinations Upper eyelid edema Retroperitoneal fibrosis Abnormality of the dentition Hypertonia Gait ataxia Congenital cataract Dysmetria Anal atresia Nausea and vomiting Constipation Cerebellar hypoplasia EEG abnormality Carious teeth Dementia Neurological speech impairment Feeding difficulties in infancy Ophthalmoplegia Arthrogryposis multiplex congenita Dilated cardiomyopathy Mental deterioration Anxiety Abdominal pain Generalized tonic-clonic seizures Myalgia Cerebral cortical atrophy Confusion Vertigo Nyctalopia Dystonia Abnormality of the cardiovascular system Photophobia Abnormality of the pinna Hip dysplasia Increased serum lactate Migraine Sensory impairment Generalized myoclonic seizures Attention deficit hyperactivity disorder Abnormal cerebellum morphology Peripheral axonal neuropathy Pruritus Coma Kyphosis Hirsutism Depressivity Areflexia Polymicrogyria Nausea Hyporeflexia Cerebral calcification Bifid scrotum Truncal ataxia Seborrheic dermatitis Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Stroke-like episode Persistence of primary teeth Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Visual hallucinations Tubulointerstitial nephritis Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Writer's cramp Leber optic atrophy Progressive external ophthalmoplegia Edema of the dorsum of hands Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Abnormal mitochondrial morphology Spontaneous hematomas Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Posterior subcapsular cataract Mitochondrial myopathy EMG abnormality Easy fatigability Intestinal obstruction Personality changes Hyponatremia Abnormality of mitochondrial metabolism Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Hyperkinesis Pancreatic hypoplasia Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Hypogonadotrophic hypogonadism Generalized hirsutism Aplasia/Hypoplasia of the cerebellum Mask-like facies Hypoparathyroidism Thyroiditis Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Rhabdomyolysis Hemiplegia/hemiparesis Hyperthyroidism Basal ganglia calcification Vertebral fusion Multiple lipomas Visual field defect Hyperkalemia Dysphasia Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Broad finger Conductive hearing impairment Abnormality of cardiovascular system physiology Retinal degeneration Abdominal situs inversus Secondary amenorrhea Myelodysplasia Polycystic ovaries Cone/cone-rod dystrophy Hoarse voice Situs inversus totalis Abnormality of the skin Neutropenia Retinal dystrophy Hypoglycemia Sideroblastic anemia Thrombocytopenia Skeletal muscle steatosis Fatigable weakness of swallowing muscles Diffuse hepatic steatosis Progressive leukoencephalopathy Hyperphosphaturia Excessive daytime somnolence Glycosuria Exertional dyspnea Respiratory insufficiency due to muscle weakness Abnormality of the basal ganglia Paroxysmal atrial tachycardia Decreased liver function Congenital diaphragmatic hernia Shawl scrotum Prematurely aged appearance Delayed cranial suture closure Emphysema Epiphyseal dysplasia Redundant skin Shock Cutis laxa Wormian bones Abnormality of the face Oligohydramnios Dilatation Vesicoureteral reflux Hemolytic anemia Arachnodactyly Pulmonic stenosis Hip dislocation Joint laxity Umbilical hernia Arthralgia Recurrent respiratory infections Inguinal hernia Pectus excavatum Spastic tetraparesis Generalized muscle weakness Premature skin wrinkling Low-set ears Reduced sperm motility Abnormal spermatogenesis Congenital hypoplastic anemia Anemia of inadequate production Male infertility Narrow palpebral fissure Infertility Synophrys Prominent nasal bridge High palate T-wave alternans Prominent eyelashes Torsade de pointes T-wave inversion Epileptic spasms Iron deficiency anemia Ventricular fibrillation Congenital sensorineural hearing impairment Ventricular arrhythmia Delayed gross motor development Abnormal intestine morphology Ventricular tachycardia Syncope Moderate hearing impairment Neoplasm Delayed speech and language development Leukopenia Decreased methylcobalamin Septic arthritis Asthenia Folate deficiency Hemolytic-uremic syndrome Anisocytosis Antinuclear antibody positivity Severe combined immunodeficiency Thrombocytosis Combined immunodeficiency Lymphopenia Leukemia Decreased antibody level in blood Autoimmunity Arthritis Recurrent infections Immunodeficiency T-cell lymphoma/leukemia Abnormal eye morphology Abnormality of chromosome stability Chromosome breakage Abnormal eyelid morphology Megalocornea Pulmonary artery stenosis Atelectasis Chronic rhinitis Epistaxis Osteolysis Elbow flexion contracture Aspiration Gynecomastia Hyperpigmentation of the skin Telangiectasia Bronchiectasis Primary amenorrhea Hypertriglyceridemia Blue sclerae Epidermal acanthosis Sleep apnea Cardiomegaly Mitral valve prolapse Decreased testicular size Wide intermamillary distance Growth hormone deficiency Flat face Cleft upper lip Lymphadenopathy Abnormality of the foot Hypotrichosis Pectus carinatum Plagiocephaly Lipodystrophy Camptodactyly Enlarged kidney Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Exocrine pancreatic insufficiency Psoriasiform dermatitis Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Stridor Abnormality of the kidney Low-set, posteriorly rotated ears Cor pulmonale Muscular hypotonia of the trunk Glomerulonephritis Glomerulosclerosis Failure to thrive in infancy Hyperextensible skin Oculomotor apraxia Progressive muscle weakness Progressive neurologic deterioration Apraxia Progressive cerebellar ataxia Hepatic failure Respiratory failure Myoglobinuria Scoliosis Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Supravalvular aortic stenosis Congenital hemolytic anemia Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Arterial stenosis Bladder diverticulum Generalized amyotrophy Tubular atrophy Hepatosplenomegaly Edema Pes planus Proptosis Micropenis Hyperkeratosis Posteriorly rotated ears Severe short stature Alopecia Patent ductus arteriosus Clinodactyly Splenomegaly Hydrocephalus Scanning speech Anteverted nares Frontal bossing Wide nasal bridge Epicanthus Flexion contracture Crescentic glomerulonephritis Rapid neurologic deterioration Exercise-induced myoglobinuria Recurrent myoglobinuria Glutaric aciduria Steroid-resistant nephrotic syndrome Prominent ear helix



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Short neck, related diseases and genetic alterations Hydrocephalus and Micropenis, related diseases and genetic alterations Skeletal muscle atrophy and Tachycardia, related diseases and genetic alterations Failure to thrive and Situs inversus totalis, related diseases and genetic alterations Sensorineural hearing impairment and Postaxial hand polydactyly, related diseases and genetic alterations

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