Anemia, and Nephrotic syndrome

Diseases related with Anemia and Nephrotic syndrome

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


Top matches:

Low match FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3


Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (OMIM ).

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3 Is also known as glomerulosclerosis, focal segmental, 3, susceptibility to

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Proteinuria


SOURCES: OMIM MENDELIAN

More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3

Low match IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS


Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Some patients may benefit from immunosuppressive therapy (summary by Ozaltin et al., 2013).Atypical hemolytic uremic syndrome-7 is characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system (summary by Lemaire et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (OMIM ).For a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 (OMIM ).

IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS Is also known as ig-mediated mpgn|immunoglobulin-mediated mpgn|ig-mediated membranoproliferative glomerulonephritis|nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis

Related symptoms:

  • Anemia
  • Hypertension
  • Renal insufficiency
  • Thrombocytopenia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS

Low match NEPHROTIC SYNDROME, TYPE 2; NPHS2


Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

NEPHROTIC SYNDROME, TYPE 2; NPHS2 Is also known as nephrotic syndrome, steroid-resistant, autosomal recessive|srn1

Related symptoms:

  • Anemia
  • Edema
  • Renal insufficiency
  • Obesity
  • Proteinuria


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROTIC SYNDROME, TYPE 2; NPHS2

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Other less relevant matches:

Low match FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1


Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; {256300}), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998).D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic SyndromeFocal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (OMIM ), caused by mutation in the TRPC6 gene (OMIM ); FSGS3 (OMIM ), associated with variation in the CD2AP gene (OMIM ); FSGS4 (OMIM ), mapped to chromosome 22q12; FSGS5 (OMIM ), caused by mutation in the INF2 gene (OMIM ); FSGS6 (OMIM ), caused by mutation in the MYO1E gene (OMIM ); FSGS7 (OMIM ), caused by mutation in the PAX2 gene (OMIM ); FSGS8 (OMIM ), caused by mutation in the ANLN gene (OMIM ); and FSGS9 (OMIM ), caused by mutation in the CRB2 gene (OMIM ).See also NPHS1 (OMIM ), caused by mutation in the NPHS1 gene (OMIM ); NPHS2 (OMIM ), caused by mutation in the podocin gene (OMIM ); NPHS3 (OMIM ), caused by mutation in the PLCE1 gene (OMIM ); and NPHS4 (OMIM ), caused by mutation in the WT1 gene (OMIM ).

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 Is also known as glomerulosclerosis, focal segmental, 1

Related symptoms:

  • Hearing impairment
  • Pain
  • Anemia
  • Hypertension
  • Edema


SOURCES: OMIM MESH MENDELIAN

More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1

Low match ACTION MYOCLONUS-RENAL FAILURE SYNDROME


Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.

ACTION MYOCLONUS-RENAL FAILURE SYNDROME Is also known as myoclonus-nephropathy syndrome|progressive myoclonic epilepsy type 4|epm4|amrf|action myoclonus-renal failure syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Anemia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACTION MYOCLONUS-RENAL FAILURE SYNDROME

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A


AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A Is also known as alps2|autoimmune lymphoproliferative syndrome, type ii

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Thrombocytopenia


SOURCES: OMIM MESH MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A

Low match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


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

Low match MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS


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

Low match COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY


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

Low match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3


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

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

Symptoms // Phenotype % cases
Thrombocytopenia Common - Between 50% and 80% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Proteinuria Uncommon - Between 30% and 50% cases
Stage 5 chronic kidney disease Uncommon - Between 30% and 50% cases
Glomerulosclerosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Focal segmental glomerulosclerosis Hemolytic anemia Hypertension Immunodeficiency Recurrent infections Lymphadenopathy Hepatosplenomegaly Autoimmunity Microscopic hematuria Chronic kidney disease Hypoalbuminemia Autoimmune hemolytic anemia

Rare Symptoms - Less than 30% cases


Immune dysregulation Hearing impairment Pneumonia Hepatomegaly Autoimmune thrombocytopenia Elevated erythrocyte sedimentation rate Increased antibody level in blood Nephritis Eosinophilia Mild proteinuria Splenomegaly Skin rash Failure to thrive Thyroiditis Glomerulopathy Hypothyroidism Arthritis Diarrhea Edema Glomerulonephritis Hyperlipidemia Eczema Hematuria Venous thrombosis Leukopenia Lymphedema Erythroderma Bone marrow hypocellularity Hyperglycemia Lymphopenia Spontaneous abortion Pulmonary arterial hypertension Recurrent otitis media Abnormality of the thyroid gland Pancytopenia Otitis media Decreased antibody level in blood Neutropenia Leukemia Sensorineural hearing impairment Secretory diarrhea Intractable diarrhea Pancreatic hypoplasia Ileus Abnormality of the coagulation cascade Villous atrophy Malnutrition Ketoacidosis B lymphocytopenia Myelodysplasia Arthralgia Abnormality of dental enamel Sarcoma Anhidrosis Episodic fever Hypoplasia of the iris Amelogenesis imperfecta Recurrent lower respiratory tract infections Intermittent diarrhea Erythema Recurrent pneumonia Sinusitis Purpura Shock Systemic lupus erythematosus Recurrent sinusitis Lymphoproliferative disorder Lymphocytosis Generalized lymphadenopathy Recurrent bacterial infections Hypohidrosis Myeloid leukemia Alveolar proteinosis Acute myeloid leukemia Severe sensorineural hearing impairment Aplastic anemia Recurrent viral infections Verrucae Type I diabetes mellitus Recurrent fungal infections Panniculitis Severe viral infections Hypoplasia of dental enamel Chronic myelomonocytic leukemia Monocytopenia Recurrent mycobacterium avium complex infections Abnormal natural killer cell morphology Generalized hypotonia Muscular hypotonia Myopathy Asthma Nail dysplasia Abnormal intestine morphology Antineutrophil antibody positivity Cardiac arrest Tremor Microalbuminuria Congenital nephrotic syndrome Seizures Ataxia Peripheral neuropathy Dysarthria Dysphagia Ascites Cerebellar atrophy Dementia Myoclonus Gait ataxia Unsteady gait Falls Nephropathy Ocular pain Nausea Intention tremor Obesity Meningitis Acute kidney injury Hemolytic-uremic syndrome Membranoproliferative glomerulonephritis Microangiopathic hemolytic anemia Thickening of the glomerular basement membrane Abnormality of the kidney Confusion Apnea Scarring Sleep apnea Obstructive sleep apnea Steroid-resistant nephrotic syndrome Mesangial hypercellularity Pain Generalized-onset seizure Decreased nerve conduction velocity Inflammatory abnormality of the skin Increased proportion of HLA DR+ T cells Increased IgG level Reduced delayed hypersensitivity Coombs-positive hemolytic anemia Rheumatoid factor positive Platelet antibody positive Decreased lymphocyte apoptosis Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Increased IgM level Smooth muscle antibody positivity Increased B cell count Growth delay Intrauterine growth retardation Diabetes mellitus Sepsis Hepatitis Autoimmune neutropenia Malar rash Postural tremor Vasculitis Action tremor Demyelinating peripheral neuropathy Normochromic anemia Abnormal glycosylation Fever Gastrointestinal hemorrhage Urticaria Follicular hyperplasia Petechiae Iron deficiency anemia Reticulocytosis Antinuclear antibody positivity Chronic noninfectious lymphadenopathy Increased IgA level Antiphospholipid antibody positivity Membranous nephropathy



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