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.

Top matches:

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 deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

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 defect

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5

Related symptoms:

  • Respiratory distress
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about 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|immunodeficie

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology


SOURCES: OMIM ORPHANET MENDELIAN

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 deficiency

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent bacterial skin infections


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY

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:

  • Seizures
  • Spasticity
  • Visual impairment
  • Fever
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

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). Genetic Heterogeneity of Ataxia-Oculomotor ApraxiaSee also AOA2 (OMIM ), caused by mutation in the SETX gene (OMIM ) on chromosome 9q34; AOA3 (OMIM ), caused by mutation in the PIK3R5 gene (OMIM ) on chromosome 17p; and AOA4 (OMIM ), caused by mutation in the PNKP gene (OMIM ) on chromosome 19q13.

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 syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

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 scan1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

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 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

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|atld

Related symptoms:

  • Ataxia
  • Nystagmus
  • Neoplasm
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

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% cases

Cerebellar atrophy Peripheral neuropathy Progressive cerebellar ataxia Seizures Telangiectasia Oculomotor apraxia Intellectual disability Fever Dysarthria Ataxia Gaze-evoked nystagmus

Rare Symptoms - Less than 30% cases

Areflexia 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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