Immunodeficiency, and Nephrotic syndrome

Diseases related with Immunodeficiency and Nephrotic syndrome

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

Top matches:

Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.

IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY Is also known as fcn3 deficiency|lectin complement activation pathway, defect in, 3|lcapd3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Ventricular septal defect
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO FICOLIN3 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

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency|dcml|dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia|monoc

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Other less relevant matches:

Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013).For a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 Is also known as cvid9, formerly|immunodeficiency, common variable, 9, formerly

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3

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

Medium match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

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

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

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

Top 5 symptoms//phenotypes associated to Immunodeficiency and Nephrotic syndrome

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Autoimmunity Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Hypothyroidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pneumonia Diarrhea Glomerulonephritis Lymphadenopathy Recurrent bacterial infections Proteinuria Hepatosplenomegaly Hepatomegaly Hemolytic anemia Hearing impairment Thyroiditis Lymphopenia Hypertension Intellectual disability Arthralgia Growth delay Skin rash Seizures Nephropathy

Rare Symptoms - Less than 30% cases

Recurrent viral infections Neutropenia Decreased antibody level in blood Combined immunodeficiency Generalized lymphadenopathy Lymphoproliferative disorder Bone marrow hypocellularity Lymphoma Microcephaly Recurrent fungal infections B lymphocytopenia Splenomegaly Edema Fever Generalized hypotonia Renal insufficiency Myopathy Glomerulopathy Alopecia Shock Purpura Hypertriglyceridemia Sensorineural hearing impairment Lymphocytosis Steroid-resistant nephrotic syndrome Stage 5 chronic kidney disease Eczema Inflammatory abnormality of the skin Eosinophilia Nephritis Sepsis Erythroderma Glomerulosclerosis Arthritis Focal segmental glomerulosclerosis Intrauterine growth retardation Failure to thrive Diabetes mellitus Membranous nephropathy Verrucae Developmental regression Recurrent lower respiratory tract infections Villous atrophy Immune dysregulation Autoimmune hemolytic anemia Cellular immunodeficiency Ichthyosis Abnormality of skin pigmentation Thin upper lip vermilion Platyspondyly Malabsorption Hip dislocation Corneal opacity Stroke Scarring Hyperlordosis Abnormality of the kidney Retinopathy Astigmatism Focal-onset seizure Hypocalcemia Osteopenia Adrenal insufficiency Congenital nephrotic syndrome Primary hypothyroidism Primary adrenal insufficiency Short stature Scoliosis Abnormal facial shape Cognitive impairment Depressed nasal bridge Motor delay Myopia Short neck Dementia Cardiomyopathy Focal impaired awareness seizure Cerebellar atrophy Vomiting Congestive heart failure Abnormality of the dentition Kyphosis Hypoalbuminemia Diffuse mesangial sclerosis Epidermal acanthosis Headache Absent testis Opacification of the corneal stroma Bulbous nose Arteriosclerosis Protuberant abdomen Abnormality of the vasculature Transient ischemic attack Thoracic kyphosis Ovoid vertebral bodies Disproportionate short-trunk short stature B-cell lymphoma Cerebral ischemia Precocious atherosclerosis Subvalvular aortic stenosis Dentinogenesis imperfecta Right ventricular cardiomyopathy Hypoplasia of the capital femoral epiphysis Steatorrhea Mucopolysacchariduria Multiple lentigines Shallow acetabular fossae Increased thyroid-stimulating hormone level Encephalomalacia Abnormal T cell morphology Abnormal immunoglobulin level Moyamoya phenomenon Premature arteriosclerosis Anterior pituitary dysgenesis Nephrosclerosis Lateral displacement of the femoral head Multiple cafe-au-lait spots Hypermelanotic macule Abnormal cerebellum morphology Heterotopia Gliosis Brain atrophy Migraine Premature birth Waddling gait Decreased testicular size Microdontia Lumbar hyperlordosis Intellectual disability, profound Fine hair Abnormal lung morphology Abnormal form of the vertebral bodies Abnormality of epiphysis morphology High pitched voice Abnormality of the nervous system Atherosclerosis Hyperlipidemia Azoospermia Reduced bone mineral density Coarse hair Chronic kidney disease Encephalitis Epiphyseal dysplasia Melanocytic nevus Spondyloepiphyseal dysplasia Emphysema Mental deterioration Pruritus Hypoglycemia Abnormal natural killer cell morphology Myeloid leukemia Acute myeloid leukemia Severe sensorineural hearing impairment Aplastic anemia Panniculitis Alveolar proteinosis Severe viral infections Chronic myelomonocytic leukemia Monocytopenia Recurrent mycobacterium avium complex infections Muscular hypotonia Venous thrombosis Asthma Nail dysplasia Hypoplasia of dental enamel Hypohidrosis Recurrent pneumonia Abnormality of dental enamel Sarcoma Anhidrosis Episodic fever Hypoplasia of the iris Amelogenesis imperfecta Myelodysplasia Leukopenia Erythema Malnutrition Ventricular septal defect Recurrent skin infections Enterocolitis Recurrent abscess formation Hepatitis Cardiac arrest Type I diabetes mellitus Abnormal intestine morphology Hyperglycemia Abnormality of the coagulation cascade Abnormality of the thyroid gland Spontaneous abortion Ketoacidosis Ileus Pancreatic hypoplasia Intractable diarrhea Secretory diarrhea Leukemia Otitis media Pancytopenia Pulmonary arterial hypertension Recurrent otitis media Lymphedema Intermittent diarrhea Sinusitis Micropenis Hypoplasia of the thymus Chronic diarrhea Short toe Increased body weight Disproportionate short-limb short stature Scaling skin Leukocytosis Aplasia/Hypoplasia of the eyebrow Hashimoto thyroiditis Severe combined immunodeficiency Hypoproteinemia Metaphyseal chondrodysplasia Abnormality of the metaphysis Protracted diarrhea Abnormal lymphocyte morphology Desquamation of skin soon after birth Severe B lymphocytopenia Global developmental delay Ataxia Strabismus Cryptorchidism Ptosis Peripheral neuropathy Hypogonadism Thickened skin Dry skin Systemic lupus erythematosus Lipodystrophy Increased antibody level in blood Elevated erythrocyte sedimentation rate Recurrent sinusitis Autoimmune thrombocytopenia Hirsutism Hepatic steatosis Hematuria Hypertrichosis Insulin resistance Generalized hirsutism Polycystic ovaries Premature ovarian insufficiency Hypotrichosis Lipoatrophy Abnormality of lipid metabolism Microscopic hematuria Progeroid facial appearance Membranoproliferative glomerulonephritis Decreased serum complement C3 Loss of truncal subcutaneous adipose tissue Progressive loss of facial adipose tissue Loss of subcutaneous adipose tissue from upper limbs Severe short stature Papule Recurrent respiratory infections


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