Hearing impairment, and Glomerulonephritis

Diseases related with Hearing impairment and Glomerulonephritis

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

Top 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

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also been associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E Is also known as cmtdie|charcot-marie-tooth disease-nephropathy syndrome|charcot-marie-tooth neuropathy with focal segmental glomerulonephritis

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E

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

Other less relevant matches:

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

Low match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome is a rare, genetic, renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor.

NEPHROTIC SYNDROME-DEAFNESS-PRETIBIAL EPIDERMOLYSIS BULLOSA SYNDROME Is also known as nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Proteinuria
  • Nail dystrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEPHROTIC SYNDROME-DEAFNESS-PRETIBIAL EPIDERMOLYSIS BULLOSA SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Glomerulonephritis

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Proteinuria Common - Between 50% and 80% cases
Nephrotic syndrome Uncommon - Between 30% and 50% cases
Nephropathy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Renal insufficiency Hypertension Seizures Nephritis Short stature Stage 5 chronic kidney disease Hematuria Cleft palate Glomerulopathy Failure to thrive Scoliosis Glomerulosclerosis Edema Anemia Recurrent infections Focal segmental glomerulosclerosis

Rare Symptoms - Less than 30% cases

Conductive hearing impairment Brachydactyly Dysarthria Immunodeficiency Cataract Ataxia Cognitive impairment Membranoproliferative glomerulonephritis Abnormal facial shape Nystagmus Muscle cramps Respiratory insufficiency Generalized hypotonia Global developmental delay Abnormality of the kidney Nail dystrophy Growth delay Pain Neoplasm Myoclonus Muscle weakness Hyporeflexia Microscopic hematuria Optic atrophy Azotemia Ptosis Sensory impairment Nephrocalcinosis Fever Skeletal muscle atrophy Hypogonadism Rod-cone dystrophy Elevated serum creatine phosphokinase Visual loss Aplasia/Hypoplasia of the cerebellum Encephalopathy Cerebral atrophy Intellectual disability, mild Cerebellar atrophy Cardiomyopathy Respiratory failure Acidosis Fatigue Metabolic acidosis Bilateral sensorineural hearing impairment Specific learning disability High forehead Memory impairment Aciduria Progressive cerebellar ataxia Postural instability Craniosynostosis Hypertrophic cardiomyopathy Dry skin Hepatic failure Lactic acidosis Joint hyperflexibility Stroke Abnormal pyramidal sign Muscular hypotonia of the trunk Respiratory distress Spasticity Gait disturbance Pancytopenia Laryngomalacia Proportionate short stature Increased intracranial pressure Abnormality of the metacarpal bones Turricephaly Choanal stenosis Cloverleaf skull Inflammatory abnormality of the eye Craniofacial dysostosis Abnormal sacrum morphology Arnold-Chiari malformation Brachyturricephaly Abnormal palate morphology Bicoronal synostosis Membranous nephropathy Hyperreflexia Short uvula Acanthosis nigricans Abnormal form of the vertebral bodies Choanal atresia Epidermal acanthosis Convex nasal ridge Short metacarpal Dental malocclusion Migraine Nevus Hypoplasia of the maxilla Melanocytic nevus Hypopigmentation of the skin Motor delay Apraxia Steroid-resistant nephrotic syndrome Status epilepticus Patellar aplasia Congenital nephrotic syndrome Cervical ribs Microalbuminuria Aplasia/Hypoplasia of the patella Patellar hypoplasia Concave nail Ridged nail Tubulointerstitial nephritis Absent distal interphalangeal creases Raynaud phenomenon Blue irides Abnormality of the elbow Patellar dislocation Renal cell carcinoma Keratoconus Colon cancer Albuminuria Antecubital pterygium Anonychia Triceps aplasia Reduced beta/alpha synthesis ratio Lacrimal duct stenosis Abnormal blistering of the skin Biceps aplasia Lester's sign Absence of pectoralis minor muscle Elongated radius Disproportionate prominence of the femoral medial condyle Deep-set nails Quadriceps aplasia Stellate iris Thickening of the lateral border of the scapula Hypoplastic radial head Iliac horns Glenoid fossa hypoplasia Hypoplasia of first ribs Microphakia Limited elbow extension Pterygium Progressive neurologic deterioration Myoglobinuria Rapid neurologic deterioration Exercise-induced myoglobinuria Recurrent myoglobinuria Glutaric aciduria Brachycephaly Scanning speech Tubular atrophy Generalized amyotrophy Talipes equinovarus Ophthalmoparesis Failure to thrive in infancy Hyperextensible skin Ragged-red muscle fibers Oculomotor apraxia Exercise intolerance Hypergonadotropic hypogonadism Progressive muscle weakness Crescentic glomerulonephritis Pectus excavatum Abnormality of the urinary system Oral cleft Aortic regurgitation Spina bifida Renal dysplasia Recurrent urinary tract infections Lumbar hyperlordosis Nail dysplasia Microcornea Cleft upper lip Clinodactyly of the 5th finger Paresthesia Confusion Talipes Arthrogryposis multiplex congenita Cleft lip Pes planus Glaucoma Osteoporosis Proptosis Inflammatory abnormality of the skin Posteriorly rotated ears Hernia Amenorrhea Abdominal distention Lethargy Pallor Weight loss Micropenis Loss of subcutaneous adipose tissue from upper limbs Congenital diaphragmatic hernia Progressive loss of facial adipose tissue Loss of truncal subcutaneous adipose tissue Decreased serum complement C3 Lymphocytosis Progeroid facial appearance Abnormality of lipid metabolism Lipoatrophy Ambiguous genitalia Primary amenorrhea Lipodystrophy Ambiguous genitalia, female Ovarian gonadoblastoma True hermaphroditism Anuria Streak ovary Low-grade fever Uterus didelphys Diffuse mesangial sclerosis Abnormality of the genital system Ambiguous genitalia, male Abnormal renal physiology Gonadoblastoma Male pseudohermaphroditism Aniridia Gonadal dysgenesis Nephroblastoma Premature ovarian insufficiency Polycystic ovaries Vomiting Areflexia Split hand Distal sensory impairment Distal amyotrophy Falls Distal muscle weakness Pes cavus Diffuse glomerular basement membrane lamellation Foot dorsiflexor weakness Lenticonus Thickening of the glomerular basement membrane Anterior polar cataract Macrothrombocytopenia Hypophosphatemia Myocardial infarction Myopia Frequent falls Hammertoe Generalized hirsutism Arthralgia Insulin resistance Hypertrichosis Hypertriglyceridemia Hepatic steatosis Hirsutism Autoimmunity Diabetes mellitus Steppage gait Alopecia Myopathy Distal upper limb amyotrophy Mild proteinuria Distal lower limb amyotrophy Onion bulb formation Axonal loss Gonadal tissue inappropriate for external genitalia or chromosomal sex Polyhydramnios Midface retrusion Hemolytic anemia Lymphopenia Bronchiectasis Eczema Lymphoma Asthma Neutropenia Erythema Narrow palpebral fissure Respiratory tract infection Abnormality of the nervous system Gastroesophageal reflux Recurrent respiratory infections Abnormality of the skeletal system High palate Abnormality of prostaglandin metabolism Vasculitis Leukopenia Secondary hyperaldosteronism Strabismus Malar flattening Hydrocephalus Frontal bossing Downslanted palpebral fissures Visual impairment Feeding difficulties Hypertelorism Recurrent skin infections Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Combined immunodeficiency Impaired reabsorption of chloride Abnormal sclera morphology Arthritis Anorexia Polyuria Rickets Hypercalcemia Hypercalciuria Hypokalemia Hypocalcemia Dehydration Polycythemia Hypotension Growth hormone deficiency Premature birth Chest pain Generalized muscle weakness Tachycardia Small for gestational age Hyperkalemia Hyperaldosteronism Hyperchloriduria Hypocalciuria Hyperactive renin-angiotensin system Renal potassium wasting Increased urinary potassium Abnormal choroid morphology Hypokalemic alkalosis Hypokalemic metabolic alkalosis Respiratory arrest Hyperphosphatemia Increased circulating renin level Metabolic alkalosis Abnormality of the retinal vasculature Chondrocalcinosis Alkalosis Renal salt wasting Hypomagnesemia Pretibial blistering


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