Immunodeficiency, and Bilateral sensorineural hearing impairment

Diseases related with Immunodeficiency and Bilateral sensorineural hearing impairment

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

Top matches:

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

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016).

IMMUNODEFICIENCY 47; IMD47 Is also known as immunodeficiency and hepatopathy with or without neurologic features

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 47; IMD47

Other less relevant matches:

Epilepsy, hearing loss, and mental retardation syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia (summary by Tanaka et al., 2015).

MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME Is also known as microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

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

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY Is also known as scid due to dna-pkcs deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY

PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

Top 5 symptoms//phenotypes associated to Immunodeficiency 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
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Microcephaly Ataxia Decreased antibody level in blood Generalized hypotonia Hypoplasia of the corpus callosum Anemia Scoliosis Nystagmus Growth delay Lymphopenia Leukopenia Mental deterioration Dysphagia Neurodegeneration

Rare Symptoms - Less than 30% cases

Abnormality of the skeletal system Absent speech Cerebral cortical atrophy Optic atrophy Wide nasal bridge Low-set ears Cerebellar atrophy Exotropia Strabismus Thrombocytopenia Hypertelorism Lymphedema Long philtrum Prominent forehead Thin upper lip vermilion Flexion contracture Pes cavus CNS hypomyelination Pancytopenia Pneumonia Short stature Combined immunodeficiency Dystonia Severe combined immunodeficiency Visual impairment Hypertension Intellectual disability, mild Severe viral infections Chronic myelomonocytic leukemia Abnormal natural killer cell morphology Alveolar proteinosis Panniculitis Monocytopenia Recurrent fungal infections Recurrent mycobacterium avium complex infections Micropenis Intrauterine growth retardation Deeply set eye Sepsis Brain atrophy Cerebellar vermis hypoplasia Pachygyria Short chin Cortical gyral simplification Severe vision loss Recurrent lower respiratory tract infections Micromelia Overlapping fingers B lymphocytopenia Otitis media Verrucae Pulmonary arterial hypertension Neutropenia Leukemia Hypothyroidism Externally rotated hips Achalasia Bulbar signs Hypoplastic scapulae Nephrotic syndrome Recurrent aphthous stomatitis Mild global developmental delay Generalized dystonia Oral cleft Recurrent otitis media Bone marrow hypocellularity Macroglossia Spontaneous abortion Cleft upper lip Venous thrombosis Myelodysplasia Myeloid leukemia Acute myeloid leukemia Severe sensorineural hearing impairment Recurrent viral infections Aplastic anemia Brittle hair Muscle weakness Bradycardia Paralysis Generalized tonic-clonic seizures Abnormality of eye movement Tetraplegia Parkinsonism Chorea Migraine Esotropia Status epilepticus Hemiparesis Choreoathetosis Involuntary movements Muscle stiffness Abnormality of the eye Abnormal autonomic nervous system physiology Slurred speech Hemiplegia Stridor Impulsivity Oral-pharyngeal dysphagia Anhidrosis Wheezing Facial paralysis Abnormality of the mitochondrion Bronchospasm Episodic quadriplegia Developmental regression Dyspnea Dysarthria Abnormal cerebellum morphology Photophobia Unsteady gait Cutaneous photosensitivity Telangiectasia Progressive muscle weakness Progressive sensorineural hearing impairment Conjunctival telangiectasia Cardiomyopathy Congestive heart failure Cerebral atrophy Rod-cone dystrophy Lactic acidosis Nephrocalcinosis Hyperhidrosis Aminoaciduria Microcytic anemia Anemia of inadequate production Hypochromic microcytic anemia Sideroblastic anemia Schistocytosis Pain Cognitive impairment Fatigue Respiratory distress Headache Areflexia Small for gestational age Spasticity Cleft lip Short philtrum Clinodactyly Patent ductus arteriosus Inguinal hernia Cerebellar hypoplasia Posteriorly rotated ears Upslanted palpebral fissure Reduced visual acuity Hydronephrosis Camptodactyly Wide mouth Abnormal cardiac septum morphology Synophrys Hernia Pulmonic stenosis Smooth philtrum Bulbous nose Downturned corners of mouth Retinal detachment Highly arched eyebrow Tapered finger Ascites Nevus Dental malocclusion Webbed neck Hypospadias Midface retrusion Dandy-Walker malformation Antinuclear antibody positivity Fever Vomiting Acidosis Arthritis Pallor Autoimmunity Retinopathy Metabolic acidosis Recurrent urinary tract infections Macrocytic anemia Thrombocytosis Megaloblastic anemia Behavioral abnormality Anisocytosis Hemolytic-uremic syndrome Folate deficiency Asthenia Septic arthritis Decreased methylcobalamin Thiamine-responsive megaloblastic anemia Abnormal facial shape Cryptorchidism Ptosis Downslanted palpebral fissures Ventriculomegaly Renal agenesis Narrow forehead Kyphoscoliosis Hypertonia Hypermetropia Cirrhosis Hepatic failure Hepatic steatosis Decreased liver function Recurrent bacterial infections Prolonged neonatal jaundice Micronodular cirrhosis Failure to thrive Feeding difficulties Intellectual disability, severe EEG abnormality Abnormality of the nervous system Muscular hypotonia of the trunk Postnatal microcephaly Cerebral visual impairment Absence seizures Limb hypertonia Congenital microcephaly Abnormal muscle tone Cleft palate Cataract Blindness Kyphosis High forehead Abnormality of the liver Elevated hepatic transaminase Progressive microcephaly Congenital nystagmus Abnormal intestine morphology Widely spaced teeth Tented upper lip vermilion Hypoalbuminemia Sparse eyebrow Proximal placement of thumb Unilateral renal agenesis Overlapping toe Pericardial effusion Abnormality of the sternum Abnormality of the periventricular white matter Retinal dysplasia Hepatosplenomegaly Mild microcephaly Protein-losing enteropathy Anomalous pulmonary venous return Total anomalous pulmonary venous return Increased mean platelet volume Macrothrombocytopenia Intestinal lymphangiectasia Flared nostrils Eversion of lateral third of lower eyelids Hepatomegaly Splenomegaly Jaundice Episodic hemiplegia


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