Immunodeficiency, and Proteinuria

Diseases related with Immunodeficiency and Proteinuria

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

Top matches:

IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 Is also known as antibody deficiency due to cd81 defect

Related symptoms:

  • Hepatomegaly
  • Renal insufficiency
  • Immunodeficiency
  • Thrombocytopenia
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6

IMMUNODEFICIENCY 43; IMD43 Is also known as beta-2-microglobulin deficiency|b2m deficiency|hypoproteinemia, hypercatabolic

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Diabetes mellitus
  • Proteinuria
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY 43; IMD43

Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

Other less relevant matches:

Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

TRANSCOBALAMIN DEFICIENCY Is also known as transcobalamin ii deficiency|inherited deficiency of transcobalamin|tc ii deficiency|tcn2 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSCOBALAMIN DEFICIENCY

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.

ACQUIRED PARTIAL LIPODYSTROPHY Is also known as apld, susceptibility to|progressive cephalothoracic lipodystrophy|barraquer-simons syndrome|lipodystrophy, cephalothoracic type|lipodystrophy, partial, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertension
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACQUIRED PARTIAL LIPODYSTROPHY

NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.

WISKOTT-ALDRICH SYNDROME Is also known as aldrich syndrome|imd2|immunodeficiency 2|eczema-thrombocytopenia-immunodeficiency syndrome|was|was1|wiskott-aldrich syndrome 1

Related symptoms:

  • Neoplasm
  • Anemia
  • Peripheral neuropathy
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about WISKOTT-ALDRICH SYNDROME

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016).

COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY Is also known as cid due to moesin deficiency|msn-related combined immunodeficiency|immunodeficiency 50, x-linked recessive|x-linked moesin-associated immunodeficiency

Related symptoms:

  • Immunodeficiency
  • Recurrent respiratory infections
  • Neutropenia
  • Decreased antibody level in blood
  • Eczema


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY

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 Proteinuria

Symptoms // Phenotype % cases
Recurrent infections Uncommon - Between 30% and 50% cases
Lymphopenia Uncommon - Between 30% and 50% cases
Glomerulonephritis Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Neutropenia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Glomerulopathy Autoimmunity Recurrent respiratory infections Nephropathy Thrombocytopenia Anemia Decreased antibody level in blood Fever Diarrhea Membranoproliferative glomerulonephritis Arthralgia Glomerulosclerosis Seizures Pneumonia Nephrotic syndrome Intellectual disability Focal segmental glomerulosclerosis

Rare Symptoms - Less than 30% cases

Eczema Abnormal bleeding Respiratory tract infection Abnormality of the nervous system Vomiting Ataxia Pancytopenia Hypertension IgM deficiency Hearing impairment Peripheral neuropathy Hypothyroidism Developmental regression Stage 5 chronic kidney disease Steroid-resistant nephrotic syndrome Lymphadenopathy Lymphoma Chronic kidney disease Combined immunodeficiency Generalized hypotonia Hypertriglyceridemia Microscopic hematuria Meningitis Diabetes mellitus IgG deficiency Sepsis Hypoalbuminemia Purpura Hematuria Recurrent bacterial infections Skin rash Keratitis Cerebellar atrophy Cardiomyopathy Dentinogenesis imperfecta Short neck Intrauterine growth retardation Myopia Motor delay Depressed nasal bridge Cognitive impairment Congestive heart failure Headache Lateral displacement of the femoral head Abnormality of the dentition Kyphosis Dementia Nephrosclerosis Osteopenia Anterior pituitary dysgenesis Thin upper lip vermilion Abnormality of the kidney Hyperlordosis Scarring Stroke Premature arteriosclerosis Corneal opacity Abnormal facial shape Specific anti-polysaccharide antibody deficiency Growth delay Abnormal platelet function Recurrent ear infections Increased IgE level Abnormality of the menstrual cycle Interstitial pneumonitis Increased IgA level Hematemesis Melena Spontaneous hematomas Bloody diarrhea Generalized lymphadenopathy Abnormal eosinophil morphology Internal hemorrhage Decreased mean platelet volume Scoliosis Abnormal platelet morphology Congenital thrombocytopenia Reduced delayed hypersensitivity Large vessel vasculitis Small vessel vasculitis Recurrent intrapulmonary hemorrhage Chronic leukemia Absent microvilli on the surface of peripheral blood lymphocytes Abnormal delayed hypersensitivity skin test Reduced lymphocyte surface expression of CD43 Oral bleeding Short stature Hip dislocation Malabsorption Platyspondyly Thoracic kyphosis Epiphyseal dysplasia Nephritis Melanocytic nevus Spondyloepiphyseal dysplasia Emphysema High pitched voice Hypermelanotic macule Steatorrhea Multiple cafe-au-lait spots Protuberant abdomen Abnormality of the vasculature Transient ischemic attack Ovoid vertebral bodies Increased thyroid-stimulating hormone level Disproportionate short-trunk short stature Shallow acetabular fossae B-cell lymphoma Multiple lentigines Lymphoproliferative disorder Villous atrophy Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Cerebral ischemia Right ventricular cardiomyopathy Precocious atherosclerosis Subvalvular aortic stenosis Encephalitis Encephalomalacia Cellular immunodeficiency Intellectual disability, profound Astigmatism Moyamoya phenomenon Abnormality of skin pigmentation Bulbous nose Abnormal cerebellum morphology Gliosis Brain atrophy Migraine Premature birth Waddling gait Decreased testicular size Microdontia Lumbar hyperlordosis Fine hair Abnormal T cell morphology Abnormal lung morphology Abnormal form of the vertebral bodies Heterotopia Abnormality of epiphysis morphology Bone marrow hypocellularity Opacification of the corneal stroma Atherosclerosis Chronic obstructive pulmonary disease Abnormal immunoglobulin level Hyperlipidemia Azoospermia Reduced bone mineral density Coarse hair Hypoplasia of the thymus Hepatomegaly Hematochezia Hypertrichosis Stomatitis Abnormality of chromosome stability Reticulocytopenia Granulocytopenia Congenital neutropenia Megaloblastic bone marrow Vitamin B12 deficiency Agranulocytosis Myopathy Alopecia Hirsutism Hepatic steatosis Insulin resistance Megaloblastic anemia Generalized hirsutism Polycystic ovaries Lipodystrophy Premature ovarian insufficiency Lipoatrophy Abnormality of lipid metabolism Progeroid facial appearance Lymphocytosis Decreased serum complement C3 Loss of truncal subcutaneous adipose tissue Progressive loss of facial adipose tissue Loss of subcutaneous adipose tissue from upper limbs Methylmalonic aciduria Agammaglobulinemia Microcephaly IgA deposition in the glomerulus Inflammatory abnormality of the skin Subcutaneous nodule Bronchiectasis Hypoplasia of the ulna Radial bowing Hypoproteinemia Pain Cataract Erythema Hepatitis Systemic lupus erythematosus Facial erythema Macroscopic hematuria Abnormality of the mouth Discoid lupus rash Loss of eyelashes Decreased serum complement factor I Failure to thrive Muscle weakness Intellectual disability, severe Irritability Lethargy Aciduria Leukopenia Macrocytic anemia IgA deficiency Acute kidney injury Global developmental delay Strabismus Acute leukemia Urticaria Otitis media Specific learning disability Epistaxis Recurrent otitis media Chronic diarrhea Sinusitis Skin ulcer Vasculitis Conjunctivitis Recurrent upper respiratory tract infections Sarcoma Intracranial hemorrhage Rheumatoid arthritis Chest pain Chronic otitis media Inflammation of the large intestine Hyperostosis Petechiae Prolonged bleeding time Cellulitis Microcytic anemia Iron deficiency anemia Hodgkin lymphoma Gingival bleeding Blepharitis Recurrent lower respiratory tract infections Sudden cardiac death Hemolytic anemia Sensorineural hearing impairment Focal impaired awareness seizure Cryptorchidism Ptosis Edema Hypogonadism Micropenis Hypoglycemia Mental deterioration Retinopathy Ichthyosis Focal-onset seizure Epidermal acanthosis Hypocalcemia Adrenal insufficiency Bruising susceptibility Primary adrenal insufficiency Primary hypothyroidism Diffuse mesangial sclerosis Congenital nephrotic syndrome Absent testis Neoplasm Fatigue Splenomegaly Arrhythmia Dyspnea Arthritis Cough Leukemia Recurrent urinary tract infections


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