Hearing impairment, and Myelodysplasia

Diseases related with Hearing impairment and Myelodysplasia

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


Top matches:

Low match AUTOSOMAL DOMINANT APLASIA AND MYELODYSPLASIA


Autosomal dominant aplasia and myelodysplasia is a rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.

AUTOSOMAL DOMINANT APLASIA AND MYELODYSPLASIA Is also known as autosomal dominant aplastic anemia and myelodysplasia

Related symptoms:

  • Hearing impairment
  • Anemia
  • Pancytopenia
  • Bone marrow hypocellularity
  • Myelodysplasia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT APLASIA AND MYELODYSPLASIA

Low match NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3


Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

Low match MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS


Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency|dcml|dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia|monoc

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

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Other less relevant matches:

Low 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

Low match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME


Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Low 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

Low match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Low match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Low match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Myelodysplasia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Pancytopenia Uncommon - Between 30% and 50% cases
Bone marrow hypocellularity Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Sensorineural hearing impairment Acute myeloid leukemia Short stature Thrombocytopenia Microcephaly Seizures Intellectual disability Splenomegaly Myeloid leukemia Immunodeficiency Visual loss Aplastic anemia Intrauterine growth retardation Abnormality of skin pigmentation Growth delay Ataxia Cataract Weight loss Hepatomegaly Neutropenia Headache

Rare Symptoms - Less than 30% cases


Vertigo Stroke Bruising susceptibility Myocardial infarction Multiple cafe-au-lait spots Myeloproliferative disorder Fatigue Respiratory insufficiency Leukocytosis Acute leukemia Glaucoma Neurofibromas Nystagmus Diabetes mellitus Abnormal heart morphology Arrhythmia Atrial septal defect Ventricular septal defect Cryptorchidism Cellulitis Epicanthus Abnormal facial shape Cleft palate Webbed neck Cirrhosis Pallor Recurrent respiratory infections Lymphoma Visual impairment Atrioventricular canal defect Anorexia Acute lymphoblastic leukemia Low-set ears Cognitive impairment Depressed nasal bridge Hypothyroidism Hypertension Intellectual disability, mild Granulocytopenia Thrombocytosis Lymphedema Abnormality of cardiovascular system morphology Delayed skeletal maturation Otitis media Specific learning disability Hyperkeratosis Cerebellar atrophy Triangular face Low-set, posteriorly rotated ears Cafe-au-lait spot Recurrent infections Lymphopenia Muscular hypotonia Generalized hypotonia Scoliosis Verrucae Venous thrombosis Leukopenia Severe sensorineural hearing impairment Right ventricular hypertrophy Nevus Hepatic failure Abnormality of the genital system Mitral valve prolapse Curly hair Palmoplantar keratoderma Recurrent fractures Hypodontia Hypoplasia of the maxilla Nail dysplasia Tetralogy of Fallot Pulmonary fibrosis Neuroblastoma Spina bifida occulta Abnormal blistering of the skin Cerebral calcification Bundle branch block Melanoma Hyperpigmentation of the skin Hepatic fibrosis Hyperextensible skin Thick vermilion border Abnormality of the voice Skin ulcer Abnormality of the fingernails Abnormal intestine morphology Neoplasm of the skin Hypopigmented skin patches Dermal atrophy Tracheoesophageal fistula Epiphora Scapular winging Malabsorption Wolff-Parkinson-White syndrome Numerous nevi Redundant neck skin Aplasia/Hypoplasia of the abdominal wall musculature Abnormal mitral valve morphology Shield chest Premature skin wrinkling Abnormal aortic valve morphology Abnormal localization of kidney Abnormality of the pulmonary artery Excessive wrinkled skin Multiple lentigines Abnormal endocardium morphology Abnormal pulmonary valve morphology Hypoplasia of the ovary Decreased fertility Left ventricular hypertrophy Carious teeth Abnormality of the dentition Bilateral cryptorchidism Alopecia Sprengel anomaly Subcutaneous nodule Abnormality of the ear Abnormality of the face Cerebellar hypoplasia Hyperhidrosis Osteoporosis External genital hypoplasia Freckling Sparse hair Nail dystrophy Melanocytic nevus Cellular immunodeficiency Premature graying of hair Ascites Multicystic kidney dysplasia Rhizomelia Depressed nasal ridge Short palpebral fissure Coarctation of aorta Ambiguous genitalia Sloping forehead Dandy-Walker malformation Growth hormone deficiency Wide nose Osteolysis Bulbous nose Long face Dolichocephaly Muscular dystrophy Small for gestational age Corneal opacity Blepharophimosis Craniosynostosis Abnormality of the eye Finger clinodactyly Microretrognathia Deeply set eye Duodenal atresia Premature chromatid separation Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Stomach cancer Rhabdomyosarcoma Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Abnormality of the skull Holoprosencephaly Abnormal lung lobation Abnormality of immune system physiology Colon cancer Aplasia/Hypoplasia of the cerebellum Nephroblastoma Abnormality of vision Sleep apnea Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Apnea High forehead Abnormality of coagulation Abnormal eyebrow morphology Testicular atrophy Delayed puberty Abnormality of female internal genitalia Ridged nail Oral leukoplakia Abnormality of the testis White hair Periodontitis Taurodontia Neoplasm of the pancreas Squamous cell carcinoma of the skin Blepharitis Abnormal eyelash morphology Premature loss of teeth Aseptic necrosis Telangiectasia of the skin Aplasia/Hypoplasia of the skin Skin vesicle Macule Hypermelanotic macule Abnormality of the pharynx Urethral stenosis Polyhydramnios Absent lacrimal punctum Clinodactyly of the 5th finger Clinodactyly Microphthalmia Short nose Ventriculomegaly Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Micrognathia Esophageal stenosis Abnormality of neutrophils Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Nail pits Rough bone trabeculation Porokeratosis Aplastic/hypoplastic toenail Interstitial pneumonitis Joint hyperflexibility Burkitt lymphoma Pulmonic stenosis Portal vein thrombosis Fever Elevated leukocyte alkaline phosphatase Increased megakaryocyte count Increased red blood cell mass Budd-Chiari syndrome Increased hematocrit Increased hemoglobin Erythroid hyperplasia Syndactyly Intermittent claudication Myelofibrosis Abnormal thrombosis Arterial thrombosis Cerebral ischemia Angina pectoris Deep venous thrombosis Gingival bleeding Edema Respiratory failure Thromboembolism Chronic otitis media Cardiomyopathy Optic atrophy Abnormal neutrophil count Macronodular cirrhosis Erysipelas Abnormality of the optic nerve Hypercoagulability Prolonged bleeding time Intracranial hemorrhage Scarring Hypotelorism Migraine Tapered finger Hematuria Hemolytic anemia Lymphadenopathy Nausea and vomiting Neurological speech impairment Pulmonary embolism Polycythemia Congestive heart failure Eosinophilia Decreased antibody level in blood Pneumonia Agranulocytosis Tonsillitis Monocytosis Congenital neutropenia Increased antibody level in blood Recurrent bacterial infections Pulmonary arterial hypertension Meningitis Clumsiness Sepsis Abnormality of the nervous system Hepatosplenomegaly Peripheral neuropathy Motor delay Spasticity Nephrotic syndrome Recurrent otitis media Cerebral hemorrhage Abnormal natural killer cell morphology Portal hypertension Tinnitus Epistaxis Gastrointestinal hemorrhage Pruritus Erythema Arthralgia Abdominal pain Recurrent mycobacterium avium complex infections Spontaneous abortion Monocytopenia Chronic myelomonocytic leukemia Severe viral infections Alveolar proteinosis Panniculitis Recurrent fungal infections B lymphocytopenia Recurrent viral infections Diarrhea Gastroesophageal reflux Pectus carinatum Leukocoria Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Fibrosarcoma Glioblastoma multiforme Malar rash Soft tissue sarcoma Hyphema Leiomyosarcoma Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Astrocytoma Neoplasm of the eye Ewing sarcoma Anemia of inadequate production Dilatation Abnormality of the kidney Hypertrophic cardiomyopathy Neonatal hypotonia Mandibular prognathia Brachycephaly Posteriorly rotated ears Pectus excavatum Hypospadias Short neck Pineal cyst Wide nasal bridge Ptosis Hypertelorism Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Acute monocytic leukemia Osteosarcoma Hypoglycemia Bilateral sensorineural hearing impairment Hyperglycemia Polycystic ovaries Cone/cone-rod dystrophy Aminoaciduria Hoarse voice Cardiac arrest Situs inversus totalis Amenorrhea Macrocytic anemia Abnormality of the skin Aciduria Polyneuropathy Retinal dystrophy Retinal degeneration Paresthesia Lethargy Abnormal cardiac septum morphology Secondary amenorrhea Megaloblastic anemia Chromosome breakage Vomiting Uveitis Sarcoma Increased intracranial pressure Postural instability Skin rash Carcinoma Proptosis Malar flattening Blindness Abdominal situs inversus Hydrocephalus Pain Strabismus Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Sideroblastic anemia Abnormality of the basal ganglia Vaginal neoplasm



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Rigidity, related diseases and genetic alterations Delayed speech and language development and Long philtrum, related diseases and genetic alterations Strabismus and Hypogonadism, related diseases and genetic alterations Cleft palate and Facial asymmetry, related diseases and genetic alterations Sensorineural hearing impairment and Autism, related diseases and genetic alterations Ataxia and Rheumatoid arthritis, related diseases and genetic alterations

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