Immunodeficiency, and Myoclonus

Diseases related with Immunodeficiency and Myoclonus

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

Top matches:

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 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

Low match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Other less relevant matches:

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

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

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY 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

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Top 5 symptoms//phenotypes associated to Immunodeficiency and Myoclonus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Immunodeficiency and Myoclonus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Chorea Dystonia Global developmental delay Tremor Ataxia Choreoathetosis Peripheral neuropathy Decreased antibody level in blood Anemia Nystagmus Apraxia Telangiectasia Lymphoma Oculomotor apraxia Gait ataxia Short stature Scoliosis Distal amyotrophy Progressive cerebellar ataxia Hyporeflexia Neoplasm Fever Hepatomegaly Splenomegaly Neutropenia Cerebellar atrophy IgA deficiency

Rare Symptoms - Less than 30% cases

Mental deterioration Areflexia Bronchiectasis Respiratory distress Lymphopenia Recurrent skin infections Combined immunodeficiency Leukoencephalopathy Cardiomyopathy Severe combined immunodeficiency Thrombocytopenia IgE deficiency Muscle weakness Chronic hepatitis Hepatocellular carcinoma Slurred speech Weight loss Optic atrophy Carcinoma Abnormality of the liver Distal muscle weakness Abnormality of eye movement Abnormality of movement Involuntary movements Spasticity Recurrent lower respiratory tract infections Hemolytic anemia Limb ataxia Truncal ataxia Skeletal muscle atrophy Pes cavus Hypometric saccades Gait disturbance Increased sensitivity to ionizing radiation Abnormality of the nervous system Encephalitis Gaze-evoked nystagmus Hearing impairment Stomatitis Sensorineural hearing impairment Abnormal facial shape Renal insufficiency Respiratory tract infection Recurrent respiratory infections Abnormal cerebellum morphology Lichenification T-cell lymphoma Nail dystrophy Cutaneous T-cell lymphoma Abnormal immunoglobulin level Hypotrichosis Dry skin Lymphadenopathy Abnormal lymphocyte morphology Abnormality of the face Palmoplantar keratoderma Abnormality of the pleura Thickened skin Neoplasm of the skin Ectropion Pruritus Erythroderma Irregular hyperpigmentation Sclerosing cholangitis Gangrene Autoimmunity Cholangiocarcinoma Skin rash Impaired vibratory sensation Opportunistic infection Ophthalmoplegia Agranulocytosis Peripheral axonal neuropathy Distal sensory impairment Sensory neuropathy Fasciculations Hypercholesterolemia External ophthalmoplegia Enlarged tonsils Hypoalbuminemia Sensory axonal neuropathy Hepatosplenomegaly Absence of lymph node germinal center Axonal degeneration Progressive external ophthalmoplegia Decreased number of large peripheral myelinated nerve fibers Facial grimacing Peripheral axonal degeneration Limb fasciculations Impaired Ig class switch recombination Edema Decreased T cell activation Alopecia Pain Dyspnea Fatigue Clumsiness Wheezing Facial paralysis Recurrent bacterial infections Chronic diarrhea Bronchospasm Episodic quadriplegia Episodic hemiplegia Muscular hypotonia Feeding difficulties Abdominal pain Stroke Lethargy Oral-pharyngeal dysphagia Recurrent otitis media Nausea and vomiting Coma Dehydration Otitis media Anorexia Pancreatitis Sepsis Hyperammonemia Diarrhea Neurodegeneration Anhidrosis Impulsivity Dysphagia Esotropia Increased IgM level Headache Hyperhidrosis Abnormality of the eye Developmental regression Paralysis Generalized tonic-clonic seizures Dysgammaglobulinemia Tetraplegia Parkinsonism Migraine IgM deficiency IgG deficiency Cholangitis Status epilepticus Hemiparesis Agammaglobulinemia Exotropia Bradycardia Muscle stiffness Gingivitis Abnormal autonomic nervous system physiology Hemiplegia Stridor Abnormality of the mitochondrion Absent Achilles reflex Dementia Pneumonia Leukopenia Glomerulonephritis Atopic dermatitis Allergic rhinitis Membranoproliferative glomerulonephritis Vasculitis in the skin Autoimmune neutropenia Cortical myoclonus Microcephaly Strabismus Flexion contracture Diabetes mellitus Vasculitis Difficulty walking Elevated hepatic transaminase Anxiety Leukemia Neurological speech impairment Delayed puberty Unsteady gait Polyneuropathy Hepatitis Type II diabetes mellitus Pancytopenia Narrow palpebral fissure Inflammatory abnormality of the skin Cafe-au-lait spot Lower limb spasticity Visual impairment Encephalopathy Acidosis Metabolic acidosis Cerebral visual impairment Shock Abnormality of mitochondrial metabolism Opsoclonus Dysmetria Cerebellar vermis hypoplasia Frequent falls Dysdiadochokinesis Eczema Nephronophthisis Impaired smooth pursuit Medial flaring of the eyebrow Generalized hypotonia High palate Brachydactyly Abnormality of the skeletal system Gastroesophageal reflux Conductive hearing impairment Erythema Asthma Sensory impairment Intention tremor Sinusitis Bicuspid aortic valve Non-Hodgkin lymphoma Cellular immunodeficiency Abnormality of chromosome stability Conjunctival telangiectasia Chronic myelogenous leukemia Neoplasm of the breast Abnormal spermatogenesis Elevated alpha-fetoprotein Decreased proportion of CD4-positive T cells Female hypogonadism Aplasia/Hypoplasia of the thymus Mucosal telangiectasiae Progressive spinal muscular atrophy Hypoplasia of the thymus Immunoglobulin IgG2 deficiency Decreased/absent ankle reflexes Interosseus muscle atrophy Defective B cell differentiation Growth delay Delayed speech and language development Atrial septal defect Intellectual disability, mild Abnormal heart morphology Abnormality of the cerebral white matter Hoarse voice Absence seizures Chronic lymphatic leukemia Spinocerebellar tract degeneration Abnormal vertebral morphology Aplasia/Hypoplasia of the skin Abnormality of the hair Recurrent pneumonia Reduced tendon reflexes Cerebral palsy Breast carcinoma Polycystic ovaries Spinal muscular atrophy Athetosis Glucose intolerance Premature graying of hair Resting tremor Multiple cafe-au-lait spots Lymphoproliferative disorder Telangiectasia of the skin Abnormality of the immune system Myeloid leukemia Prematurely aged appearance Hodgkin lymphoma Hypopigmentation of hair Acute lymphoblastic leukemia Chromosome breakage Recurrent bronchitis Renal neoplasm B-cell lymphoma Abnormality of the testis Impaired memory B cell generation


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