Immunodeficiency, and Abnormality of eye movement
Diseases related with Immunodeficiency and Abnormality of eye movement
In the following list you will find some of the most common rare diseases related to Immunodeficiency and Abnormality of eye movement that can help you solving undiagnosed cases.
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.
MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiencyRelated symptoms:
More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY
IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defectRelated symptoms:
- Recurrent respiratory infections
- Respiratory tract infection
- Decreased antibody level in blood
- Recurrent bacterial infections
More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5
Low match IMMUNODEFICIENCY 39; IMD39
Other less relevant matches:
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..
MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficieRelated symptoms:
- Recurrent infections
- Abnormality of immune system physiology
More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY
Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.
PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY Is also known as myd88 deficiency|pyogenic bacterial infections, recurrent, due to myd88 deficiency|recurrent pyogenic bacterial infections due to myd88 deficiencyRelated symptoms:
- Recurrent bacterial skin infections
More info about PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY
Low match IMMUNODEFICIENCY 44; IMD44
Immunodeficiency-44 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015).Related symptoms:
- Visual impairment
More info about IMMUNODEFICIENCY 44; IMD44
Ataxia-oculomotor apraxia syndrome is an early-onset autosomal recessive cerebellar ataxia with peripheral axonal neuropathy, oculomotor apraxia (defined as the limitation of ocular movements on command), and hypoalbuminemia (Moreira et al., 2001).
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH Is also known as eoca-ha|aoa|ataxia-oculomotor apraxia syndrome|ataxia-oculomotor apraxia 1|aoa1|cerebellar ataxia, early-onset, with hypoalbuminemia|ataxia-telangiectasia-like syndromeRelated symptoms:
- Intellectual disability
- Muscle weakness
More info about ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH
Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.
SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1 Is also known as scan1Related symptoms:
- Intellectual disability
More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1
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 syndromeRelated symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME
Low match ATAXIA-OCULOMOTOR APRAXIA TYPE 1
Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.
ATAXIA-OCULOMOTOR APRAXIA TYPE 1 Is also known as aoa1|atldRelated symptoms:
- Peripheral neuropathy
More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 1
Top 5 symptoms//phenotypes associated to Immunodeficiency and Abnormality of eye movement
|Symptoms // Phenotype||% cases|
|Nystagmus||Uncommon - Between 30% and 50% cases|
|Distal amyotrophy||Uncommon - Between 30% and 50% cases|
|Apraxia||Uncommon - Between 30% and 50% cases|
|Chorea||Uncommon - Between 30% and 50% cases|
|Gait ataxia||Uncommon - Between 30% and 50% cases|
Other less frequent symptoms
Patients with Immunodeficiency and Abnormality of eye movement. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% casesCerebellar atrophy Peripheral neuropathy Progressive cerebellar ataxia Seizures Telangiectasia Oculomotor apraxia Intellectual disability Fever Dysarthria Ataxia Gaze-evoked nystagmus
Rare Symptoms - Less than 30% casesAreflexia Tremor Dystonia Neoplasm Hyporeflexia Pes cavus Peripheral axonal neuropathy Hypometric saccades Hypercholesterolemia Hypoalbuminemia Lymphadenopathy Sensory neuropathy Sensory axonal neuropathy Myoclonus Scoliosis Decreased antibody level in blood Cerebral visual impairment Spasticity Visual impairment Recurrent infections Cognitive impairment Thrombocytopenia Absent speech Hypertonia Intellectual disability, severe Hypoplasia of the corpus callosum Feeding difficulties Strabismus Sensorineural hearing impairment Failure to thrive Growth delay Microcephaly Hearing impairment Generalized hypotonia Global developmental delay Impaired distal proprioception Pain insensitivity Spastic dysarthria Cerebral cortical atrophy Postnatal microcephaly EEG abnormality Dysmetria Increased sensitivity to ionizing radiation Impaired smooth pursuit Nephronophthisis Dysdiadochokinesis Lower limb spasticity Frequent falls Cerebellar vermis hypoplasia Abnormal cerebellum morphology Abnormality of the nervous system Muscular hypotonia of the trunk Renal insufficiency Gait disturbance Abnormal muscle tone Congenital microcephaly Limb hypertonia CNS hypomyelination Absence seizures Distal lower limb muscle weakness Spinocerebellar tract degeneration Global brain atrophy Impaired vibration sensation in the lower limbs Ophthalmoplegia Fasciculations Limb ataxia Recurrent bacterial skin infections Choreoathetosis Encephalopathy Distal sensory impairment Acidosis Distal muscle weakness Abnormality of immune system physiology Mental deterioration Metabolic acidosis Dementia Shock Encephalitis Abnormality of mitochondrial metabolism Stomatitis Opsoclonus Truncal ataxia External ophthalmoplegia Axonal loss Recurrent respiratory infections Cerebellar vermis atrophy Muscle weakness Steppage gait Sensorimotor neuropathy Brain atrophy Skeletal muscle atrophy Pain Limb fasciculations Respiratory distress Peripheral axonal degeneration Facial grimacing Respiratory tract infection Decreased number of large peripheral myelinated nerve fibers Progressive external ophthalmoplegia Axonal degeneration Recurrent bacterial infections Impaired vibratory sensation Medial flaring of the eyebrow
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