Immunodeficiency, and Acidosis

Diseases related with Immunodeficiency and Acidosis

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Acidosis 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

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Other less relevant 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

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

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

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 VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Acidosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cardiomyopathy Fever Generalized hypotonia Metabolic acidosis Recurrent infections Decreased antibody level in blood Growth delay Thrombocytopenia Lymphopenia Hearing impairment Sensorineural hearing impairment Vomiting Leukopenia Neutropenia Aciduria Lactic acidosis Pancytopenia Hepatomegaly Short stature Muscular hypotonia

Rare Symptoms - Less than 30% cases

Myopathy Hypertelorism Aminoaciduria Rod-cone dystrophy Cerebral atrophy Congestive heart failure Ataxia Anisocytosis Intellectual disability, mild Encephalopathy Megaloblastic anemia Macrocytic anemia Combined immunodeficiency Feeding difficulties in infancy Pneumonia Recurrent respiratory infections Respiratory distress Optic atrophy Ischemic stroke Feeding difficulties Abnormality of immune system physiology Cerebellar hemorrhage Hyperglycinemia Methylmalonic aciduria Organic aciduria Ketonuria Hyperammonemia Eczema Pancreatitis Dehydration Coma Lethargy Stroke Spasticity Dystonia Ketoacidosis Muscular hypotonia of the trunk Sepsis Hypoglycemia Arthritis Left ventricular hypertrophy Muscle weakness Autoimmunity Lymphadenopathy Ventricular hypertrophy Motor delay Depressed nasal bridge Diabetes mellitus Neurodevelopmental delay Agenesis of corpus callosum Coarse facial features Ptosis Abnormal posturing Respiratory failure Cerebral cortical atrophy Recurrent fungal infections Low-set ears High palate Hypopigmentation of the fundus Hypospadias Dilatation Peripheral neuropathy Hyperreflexia Ventriculomegaly Anteverted nares Cellular immunodeficiency White matter neuronal heterotopia Cerebellar atrophy Cerebellar hypoplasia Hypertonia Long philtrum Epicanthus Cleft palate Cataract Hyperglycinuria Developmental regression Overgrowth Tachypnea Frontoparietal polymicrogyria Schizencephaly Poor appetite Abnormal macular morphology Limb hypertonia Ketosis Episodic vomiting Muscle flaccidity Acute encephalopathy Abnormality of the cerebellar vermis Abnormality of the thymus Granulocytopenia Increased level of hippuric acid in urine Abnormality of the optic disc Recurrent aspiration pneumonia Propionyl-CoA carboxylase deficiency Decreased proportion of CD4-positive T cells Intolerance to protein Propionicacidemia Microcephaly Abnormality of the mandible Nystagmus Pontocerebellar atrophy Micrognathia Abnormal facial shape Hypertrophic cardiomyopathy EEG abnormality Joint stiffness Cleft lip Ocular albinism Decreased body weight Abnormality of retinal pigmentation Decreased T cell activation Decreased liver function Cutaneous anergy Abnormal immunoglobulin level Progressive microcephaly Aspiration Increased body weight Recurrent bacterial infections Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Adducted thumb Heterotopia Poor suck Congenital sensorineural hearing impairment Albinism Macular atrophy Bronchitis Centrally nucleated skeletal muscle fibers Renal tubular acidosis Optic neuropathy Hypopigmentation of hair Severe sensorineural hearing impairment IgG deficiency Aspiration pneumonia Severe failure to thrive Aplasia/Hypoplasia of the macula Open mouth Postnatal growth retardation Chronic mucocutaneous candidiasis Respiratory tract infection Hypoplasia of the thymus Depressed nasal tip Severe global developmental delay Dilated cardiomyopathy Congenital cataract Cleft upper lip Polymicrogyria Recurrent viral infections Pulmonary hypoplasia Wide nose Thick vermilion border Abnormal cortical gyration Severe T-cell immunodeficiency Ureteral atresia Penile hypospadias High, narrow palate Sleep disturbance Hypopigmentation of the skin Triangular face Hypoplasia of the pons Narrow forehead Fair hair Hypotelorism Cerebellar vermis hypoplasia Progressive neurologic deterioration Renal tubular dysfunction Immunoglobulin IgG2 deficiency Delayed myelination Renal insufficiency Apnea Abnormality of the coagulation cascade Hypothyroidism Hemolytic anemia Hepatitis Nephrotic syndrome Inflammatory abnormality of the skin Cardiac arrest Type I diabetes mellitus Abnormal intestine morphology Eosinophilia Nephritis Erythroderma Hyperglycemia Malnutrition Intrauterine growth retardation Abnormality of the thyroid gland Autoimmune hemolytic anemia Thyroiditis Villous atrophy Immune dysregulation Ileus Pancreatic hypoplasia Intractable diarrhea Secretory diarrhea Hypertension Pallor Retinopathy Diarrhea Increased hepatic glycogen content Recurrent urinary tract infections Thin upper lip vermilion Visual impairment Myoclonus Chorea Cerebral visual impairment Shock Encephalitis Abnormality of mitochondrial metabolism Stomatitis Opsoclonus Midface retrusion Elevated serum creatine phosphokinase Hepatosplenomegaly Deeply set eye Sinus tachycardia Elevated hepatic transaminase Peripheral axonal neuropathy Thin vermilion border Distal amyotrophy Broad nasal tip Full cheeks Cardiomegaly Hypertriglyceridemia Hepatic fibrosis Exercise intolerance Hyperlipidemia Abnormality of lipid metabolism Increased muscle fatiguability Bilateral sensorineural hearing impairment Thrombocytosis Osteoporosis Postural instability Oroticaciduria Folate-unresponsive megaloblastic anemia Orotic acid crystalluria Pyrimidine-responsive megaloblastic anemia Reduced orotidine 5-prime phosphate decarboxylase activity Fatigue Respiratory insufficiency Abnormality of the kidney Neurological speech impairment Nausea and vomiting Stage 5 chronic kidney disease Nephropathy Tetraparesis Poikilocytosis Choreoathetosis Paraparesis Spastic tetraparesis Tubulointerstitial nephritis Delayed CNS myelination Homocystinuria Methylmalonic acidemia Tubulointerstitial abnormality Abnormal globus pallidus morphology Chronic metabolic acidosis Metabolic ketoacidosis Arrhythmia Constipation Impaired T cell function Abnormal toenail morphology Severe combined immunodeficiency Anemia of inadequate production Antinuclear antibody positivity Hemolytic-uremic syndrome Folate deficiency Asthenia Septic arthritis Decreased methylcobalamin Thiamine-responsive megaloblastic anemia Neurodegeneration Abnormal cerebellum morphology Nephrocalcinosis Brittle hair Microcytic anemia Hypochromic microcytic anemia Abnormality of the ureter Sideroblastic anemia Schistocytosis Wide nasal bridge Downslanted palpebral fissures Ventricular septal defect Atrial septal defect Splenomegaly Patent ductus arteriosus Low-set, posteriorly rotated ears Abnormality of the liver Hematuria Hip dysplasia Meningitis Acute bronchitis


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