Hearing impairment, and Nephrotic syndrome

Diseases related with Hearing impairment and Nephrotic syndrome

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

Top matches:

Familial steroid-resistant nephrotic syndrome with sensorineural deafness is a rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH SENSORINEURAL DEAFNESS

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Edema


SOURCES: OMIM MENDELIAN

More info about NEPHROTIC SYNDROME, TYPE 8; NPHS8

Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (OMIM ). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (OMIM ) is rare (van der Loop et al., 2000).See also benign familial hematuria (BFH ), a similar but milder disorder.

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ALPORT SYNDROME

Other less relevant matches:

Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss (Alport, 1927). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (OMIM ). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance is rare (van der Loop et al., 2000).Also see benign familial hematuria (BFH ), a similar but milder disorder also caused by mutation in the COL4A3 gene.An autosomal dominant disorder sharing the clinical features of Alport syndrome but with the addition of macrothrombocytopenia, known as Fechtner syndrome (OMIM ), is caused by mutation in the MYH9 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension
  • Myopia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about ALPORT SYNDROME, AUTOSOMAL DOMINANT

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

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 5; GAMOS5

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

NAIL-PATELLA SYNDROME Is also known as turner-kieser syndrome|onychoosteodysplasia

Related symptoms:

  • Hearing impairment
  • Cataract
  • Hypertension
  • Renal insufficiency
  • Glaucoma


SOURCES: ORPHANET MENDELIAN

More info about NAIL-PATELLA SYNDROME

AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis|amyloidosis, systemic nonneuropathic|amyloidosis viii|amyloidosis, familial renal|ostertag type amyloidosis

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYLOIDOSIS, FAMILIAL VISCERAL

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

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

Top 5 symptoms//phenotypes associated to Hearing impairment and Nephrotic syndrome

Symptoms // Phenotype % cases
Proteinuria Very Common - Between 80% and 100% cases
Hypertension Common - Between 50% and 80% cases
Hematuria Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Common - Between 50% and 80% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Renal insufficiency Microscopic hematuria Seizures Intellectual disability Edema Nephropathy Focal segmental glomerulosclerosis Glomerulosclerosis

Rare Symptoms - Less than 30% cases

Cataract Immunodeficiency Diffuse glomerular basement membrane lamellation Thickening of the glomerular basement membrane Nephritis Glomerulonephritis Myopia Glomerulopathy Recurrent infections Congenital nephrotic syndrome Anemia Glaucoma Ataxia Abnormal facial shape Diffuse mesangial sclerosis Hypoalbuminemia Chronic kidney disease Pain Venous thrombosis Otitis media Myelodysplasia Lymphopenia Leukopenia Pulmonary arterial hypertension Spontaneous abortion Recurrent otitis media Lymphedema Bone marrow hypocellularity Pancytopenia Renal amyloidosis Decreased antibody level in blood Drusen Polyneuropathy Cholestasis Urticaria Amyloidosis Optic neuropathy Papilledema Restrictive cardiomyopathy Neutropenia Albuminuria Acute myeloid leukemia Generalized amyloid deposition Pneumonia Hypothyroidism Leukemia Myeloid leukemia Alopecia Severe sensorineural hearing impairment Lipoatrophy Hypertrichosis Insulin resistance Generalized hirsutism Polycystic ovaries Lipodystrophy Premature ovarian insufficiency Abnormality of lipid metabolism Hepatic steatosis Progeroid facial appearance Lymphocytosis Membranoproliferative glomerulonephritis Decreased serum complement C3 Loss of truncal subcutaneous adipose tissue Progressive loss of facial adipose tissue Hypertriglyceridemia Hirsutism Aplastic anemia Severe viral infections Recurrent viral infections Verrucae B lymphocytopenia Recurrent fungal infections Panniculitis Alveolar proteinosis Chronic myelomonocytic leukemia Autoimmunity Monocytopenia Recurrent mycobacterium avium complex infections Abnormal natural killer cell morphology Myopathy Skin rash Diabetes mellitus Arthralgia Paresthesia Abnormality of the lower limb Hepatosplenomegaly Anterior polar cataract Ventriculomegaly Epicanthus Spasticity Hypertelorism Microcephaly Global developmental delay Microalbuminuria Ocular pain Hyperlipidemia Ascites Nausea Confusion Lenticonus Azotemia Macrothrombocytopenia Mandibular prognathia Failure to thrive Abnormality of the cerebral white matter Blindness Cerebral visual impairment Generalized edema Steroid-resistant nephrotic syndrome Thin glomerular basement membrane Visual loss Hypophosphatemia Abnormality of the kidney Bilateral sensorineural hearing impairment Corneal erosion Anterior lenticonus Myocardial infarction Nephrocalcinosis Cerebral atrophy Deeply set eye Weight loss Abnormal toenail morphology Abdominal pain Splenomegaly Cardiomyopathy Fever Hepatomegaly Peripheral neuropathy Neoplasm Thickening of the lateral border of the scapula Iliac horns Aplastic/hypoplastic toenail Aplasia/Hypoplasia of the patella Concave nail Ridged nail Abnormality of the upper limb Abnormality of the elbow Arachnodactyly Osteoarthritis Brain atrophy Peripheral demyelination Pachygyria Skeletal dysplasia Joint stiffness Joint hyperflexibility Vasculitis Patellar dislocation Joint dislocation Abnormality of the fingernails Cubitus valgus Hypoplastic toenails Joint swelling Exostoses Loss of subcutaneous adipose tissue from upper limbs


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