Immunodeficiency, and Epileptic encephalopathy

Diseases related with Immunodeficiency and Epileptic encephalopathy

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


Top matches:

High match MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ


Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Is also known as epileptic encephalopathy, early infantile, 10|eiee10

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

Low match HERPES SIMPLEX VIRUS ENCEPHALITIS


Herpes simplex virus encephalitis (HSVE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSVE often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.

HERPES SIMPLEX VIRUS ENCEPHALITIS Is also known as herpetic encephalitis|herpes simplex meningo-encephalitis|hsv encephalitis|herpes simplex encephalitis, susceptibility to, 1|hsve|herpes simplex neuroinvasion|hse

Related symptoms:

  • Immunodeficiency
  • Encephalopathy
  • Encephalitis
  • Herpes simplex encephalitis
  • Susceptibility to herpesvirus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HERPES SIMPLEX VIRUS ENCEPHALITIS

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:

  • Seizures
  • Spasticity
  • Visual impairment
  • Fever
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 44; IMD44

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Other less relevant matches:

Low match KAPOSI SARCOMA


Kaposi sarcoma (KS) is a rare human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops is various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.

KAPOSI SARCOMA Is also known as multiple idiopathic pigmented hemangiosarcoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about KAPOSI SARCOMA

Low match X-LINKED LYMPHOPROLIFERATIVE DISEASE


X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

Low match COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY


Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1


Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Low match PROPIONIC ACIDEMIA


Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Low match X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY


X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.

X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY Is also known as siemerling-creutzfeldt disease|addison disease and cerebral sclerosis|bronze schilder disease|melanodermic leukodystrophy

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY

Low match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Epileptic encephalopathy

Symptoms // Phenotype % cases
Encephalopathy Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Encephalitis Thrombocytopenia Recurrent infections Neoplasm Lymphadenopathy Spasticity Lymphoma Muscular hypotonia Coma Failure to thrive Intellectual disability Cellular immunodeficiency Behavioral abnormality Pancytopenia Anemia Hepatomegaly Ataxia

Rare Symptoms - Less than 30% cases


Peripheral demyelination Hepatosplenomegaly Diarrhea Abnormality of the liver Decreased antibody level in blood Skin rash Hepatic failure Increased antibody level in blood Pulmonary arterial hypertension Meningitis Cognitive impairment Splenomegaly Sarcoma Ventricular septal defect Hypocalcemia Histiocytosis Edema Hemiparesis Polyneuropathy Constipation Hyperactivity Gait ataxia Hypoglycemia Arrhythmia Amelogenesis imperfecta Episodic fever Myopathy Abnormal facial shape Susceptibility to herpesvirus Neutropenia Visual impairment Peripheral neuropathy Acidosis Sepsis Metabolic acidosis Short stature Abnormality of mitochondrial metabolism Stomatitis Psychosis Dyschromatopsia Limb ataxia Tubular atrophy Hypotension Hyperpigmentation of the skin Leukodystrophy Axonal degeneration Truncal ataxia Paraparesis Spastic paraparesis Bulbar palsy Slurred speech Incoordination Adrenal hypoplasia Personality changes Emotional lability Adrenal insufficiency Urinary bladder sphincter dysfunction Impotence Loss of speech Abnormality of color vision Primary adrenal insufficiency Bowel incontinence Dementia Urinary incontinence Ketoacidosis Hyperglycinuria Acute encephalopathy Hyperglycinemia Episodic vomiting Methylmalonic aciduria Organic aciduria Ketonuria Ketosis Increased level of hippuric acid in urine Limb hypertonia Poor appetite Abnormality of immune system physiology Ischemic stroke Hyperammonemia Tachypnea Pancreatitis Cerebellar hemorrhage Propionyl-CoA carboxylase deficiency Abnormal cerebellum morphology Mental deterioration Neurodegeneration Retinal dystrophy Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Attention deficit hyperactivity disorder Paralysis EEG abnormality Intolerance to protein Reduced visual acuity Hypogonadism Visual loss Blindness Abnormality of the skeletal system Hearing impairment Propionicacidemia Achalasia Dysphagia Spinocerebellar tract degeneration Cardiac arrest Atrioventricular block Optic nerve hypoplasia Ventricular arrhythmia Cutaneous syndactyly Ventricular tachycardia Abnormality of dental enamel Bradycardia Obsessive-compulsive behavior Sinusitis Hypoplasia of dental enamel Abnormality of the face Cardiomegaly Tetralogy of Fallot Microdontia Esotropia Patent foramen ovale Ventricular fibrillation Syncope Torsade de pointes Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Perimembranous ventricular septal defect 2-3 toe syndactyly Hypothermia Protruding tongue Cutaneous finger syndactyly Bronchitis Mixed hearing impairment Prolonged QT interval Multiple joint contractures Round face Sudden cardiac death Cerebral edema Elevated long chain fatty acids Myopia Wide nasal bridge Depressed nasal bridge Low-set ears Hypertelorism Cone monochromacy Blue cone monochromacy Abnormality of the dentition Monochromacy Psychotic episodes Mania Progressive spastic paraparesis Decreased circulating aldosterone level Myelopathy Vegetative state Dehydration Syndactyly Hypoplasia of the maxilla Hypertrophic cardiomyopathy Joint hypermobility Toe syndactyly Carious teeth Hip dislocation Abnormal cardiac septum morphology Autistic behavior Thin upper lip vermilion Abnormality of cardiovascular system morphology Gastroesophageal reflux Hypothyroidism Autism Prominent forehead Abnormal heart morphology Patent ductus arteriosus Depressivity Eczema Hemophagocytosis Overgrowth Memory impairment Agammaglobulinemia IgG deficiency Hodgkin lymphoma Bone marrow hypocellularity Vasculitis Bronchiectasis Falls Aplastic anemia Respiratory failure Dilatation Neoplasm by anatomical site Skin plaque Generalized lymphadenopathy Venous insufficiency B-cell lymphoma Immune dysregulation Abnormality of the spleen Hepatic necrosis Muscle weakness Fulminant hepatitis Reduced natural killer cell activity Pharyngitis Non-Hodgkin lymphoma Burkitt lymphoma Pure red cell aplasia Recurrent pharyngitis Dysgammaglobulinemia Increased IgM level Chorioretinitis Granulomatosis Hepatic encephalopathy Lymphocytosis Skin nodule Lymphoproliferative disorder Pectus excavatum Absent speech Herpes simplex encephalitis Cortical gyral simplification Progressive microcephaly Febrile seizures Hyporeflexia Cerebellar atrophy Chorea Intellectual disability, severe Hypoplasia of the corpus callosum Ventriculomegaly Skeletal muscle atrophy Motor delay Microcephaly Myoclonus Cerebral visual impairment Abnormality of the lower limb Lymphedema Abnormality of the gastrointestinal tract Macule Abnormal retinal morphology Hypermelanotic macule Hemangioma Neoplasm of the skin Abnormal lung morphology Shock Gastrointestinal hemorrhage Papule Weight loss Fatigue Hypertension Opsoclonus Talipes equinovarus Difficulty walking Aciduria Increased LDL cholesterol concentration Hypofibrinogenemia Increased VLDL cholesterol concentration T-cell lymphoma Granulocytopenia Increased total bilirubin Partial albinism Prolonged prothrombin time Polyneuritis Decreased HDL cholesterol concentration Generalized edema Prolonged partial thromboplastin time Hypoproteinemia Acute leukemia Increased serum ferritin CSF pleocytosis Plasmacytosis Pulmonary infiltrates Muscular hypotonia of the trunk Lactic acidosis Lethargy Stroke Developmental regression Feeding difficulties in infancy Apnea Osteoporosis Lipogranulomatosis Cerebral atrophy Dystonia Vomiting Cardiomyopathy Feeding difficulties Abnormal natural killer cell physiology Increased CSF protein Severe combined immunodeficiency Dry skin Recurrent aphthous stomatitis Elevated hepatic transaminase Jaundice Hypertonia Protracted diarrhea Pyelonephritis Hypoplasia of the thymus Heat intolerance Irritability Progressive encephalopathy Anhidrosis Gowers sign Respiratory insufficiency due to muscle weakness Chronic diarrhea Ectodermal dysplasia Abnormality of the nervous system Leukemia Combined immunodeficiency Increased intracranial pressure Abnormality of the coagulation cascade Albinism Hyponatremia Hemiplegia Hypoalbuminemia Eosinophilia Leukopenia Confusion Purpura Hyperbilirubinemia Aspiration Hypertriglyceridemia Gliosis Tetraplegia Hemolytic anemia Abnormal direction of ventricular apex



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