Hearing impairment, and Nephrolithiasis

Diseases related with Hearing impairment and Nephrolithiasis

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

Top matches:

Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.

AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS Is also known as autosomal recessive distal rta|rta, distal, autosomal recessive|ar drta|renal tubular acidosis, autosomal recessive, with preserved hearing

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS

Low match IMINOGLYCINURIA

Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Spasticity
  • Blindness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMINOGLYCINURIA

Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by Divisato et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see {167250}.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Recurrent fractures


SOURCES: OMIM MENDELIAN

More info about PAGET DISEASE OF BONE 6; PDB6

Other less relevant matches:

RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS Is also known as rta with progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis, autosomal recessive, with progressive nerve deafness

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS

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 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 (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A Is also known as bartter syndrome, neonatal, with sensorineural deafness|bsnd

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.

Related symptoms:

  • Short stature
  • Scoliosis
  • Strabismus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about STIFF SKIN SYNDROME

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE X; OI10 Is also known as oi, type x

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE X; OI10

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRIMARY HYPERALDOSTERONISM-SEIZURES-NEUROLOGICAL ABNORMALITIES SYNDROME

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

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Nephrocalcinosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Stage 5 chronic kidney disease Generalized hypotonia Prominent forehead Triangular face Global developmental delay Failure to thrive Strabismus Dehydration Hypokalemia

Rare Symptoms - Less than 30% cases

Scoliosis Edema Paralysis Peripheral neuropathy Glaucoma Narrow chest Muscular hypotonia Motor delay Joint laxity Retinal detachment Hydronephrosis Arnold-Chiari type I malformation Polydipsia High-frequency hearing impairment Hyperaldosteronism Alkalosis Left ventricular hypertrophy Metabolic alkalosis Abnormality of the nervous system Growth delay Midface retrusion Blindness Ureteropelvic junction obstruction Vomiting Acidosis Metabolic acidosis Bilateral sensorineural hearing impairment Rickets Seizures Distal renal tubular acidosis Chronic kidney disease Spasticity Bilateral renal hypoplasia Pyelonephritis Lens luxation Platybasia Optic nerve dysplasia Mild proteinuria Horseshoe kidney Scleral staphyloma Renal malrotation Morning glory anomaly Microphthalmia Macular hyperpigmentation Recurrent pyelonephritis Ureterovesical junction obstruction Ataxia Epicanthus Orbital cyst Retinal coloboma Multicystic kidney dysplasia Confusion Macular degeneration Renal dysplasia Abnormality of the genital system Renal hypoplasia Abnormality of the genitourinary system Hyperextensible skin Nephritis Progressive visual loss Vesicoureteral reflux Gliosis Nephropathy Joint hyperflexibility Optic nerve coloboma Coloboma Chorioretinal atrophy Severe vision loss Abnormality of the kidney Soft skin Proteinuria Abnormality of the vasculature Multiple renal cysts Elevated serum creatinine Hydrocele testis Reduced visual acuity Visual field defect Abnormality of eye movement Cardiomyopathy Patent foramen ovale Nausea Tetraplegia Generalized-onset seizure Spastic tetraplegia Pulmonary arterial hypertension Ventricular hypertrophy Epistaxis Cerebral visual impairment Cerebral palsy Tinnitus Atrioventricular block Intracranial hemorrhage Spastic paraplegia Focal impaired awareness seizure Athetosis Adrenal hyperplasia Decreased circulating renin level Biventricular hypertrophy Caesarian section Second degree atrioventricular block Uterine rupture Abnormal circulating renin Dexamethasone-suppresible primary hyperaldosteronism Primary hyperaldosteronism Focal myoclonic seizures Generalized tonic-clonic seizures Headache Hypertonia Dysmetria Recurrent infections Arrhythmia Areflexia Pneumonia Diabetes mellitus Hyperactivity Arthritis Wide mouth Neurological speech impairment Hypermetropia Myopia Peripheral axonal neuropathy Intellectual disability, severe Polyneuropathy Convex nasal ridge Hypotelorism Hyperuricemia Gout Abnormal aortic morphology Hyperuricosuria Increased urinary hypoxanthine Excessive purine production Abnormality of skeletal muscles Uric acid nephrolithiasis Ventricular septal defect Hydrocephalus Narrow forehead Visual impairment Polyuria Polyhydramnios Protruding ear Small for gestational age Postural instability Premature birth Hydrops fetalis Hypercalciuria Glomerulosclerosis Hyponatremia Congenital sensorineural hearing impairment Renal salt wasting Fatigue Abnormally large globe Tubulointerstitial fibrosis Decreased glomerular filtration rate Hypokalemic alkalosis Hypokalemic metabolic alkalosis Hypernatriuria Mesangial hypercellularity Increased urinary potassium Hypochloremia Fetal polyuria Hyperchloriduria Hyporeflexia Renal potassium wasting Hypochloremic metabolic alkalosis Hydroxyprolinuria Osteomalacia Hyperchloremic metabolic acidosis Encephalopathy Abnormality of the eye Severe global developmental delay Aciduria Hypophosphatemia Progressive encephalopathy Cystinuria Hyperglycinuria Prolinuria Osteopetrosis Hyperornithinemia Neoplasm Pain Recurrent fractures Myocardial infarction Osteoarthritis Bone pain Elevated alkaline phosphatase Coronary artery atherosclerosis Cerebral calcification Renal tubular acidosis Global glomerulosclerosis Hypokalemic hypochloremic metabolic alkalosis Cataract Relative macrocephaly Osteopenia Platyspondyly Genu valgum Micromelia Limb undergrowth Blue sclerae Abnormal lung morphology Wide anterior fontanel Wormian bones Coxa valga Pyloric stenosis Inguinal hernia Increased susceptibility to fractures High pitched voice Femoral bowing Thin ribs Shallow orbits Vertebral compression fractures Generalized joint laxity Broad ribs Chronic lung disease Dentinogenesis imperfecta Nystagmus High forehead Malar flattening Reduced renal corticomedullary differentiation Decreased muscle mass Muscle weakness Flexion contracture Severe short stature Limitation of joint mobility Type II diabetes mellitus Hypertrichosis Subcutaneous nodule Thickened skin Lipodystrophy Ectopia lentis Mild short stature Multiple lipomas Respiratory distress Lipoatrophy Aplasia/Hypoplasia of the skin Scleroderma Abnormality of the musculature Impaired pain sensation Abnormality of lipid metabolism Lack of skin elasticity Stiff skin Entrapment neuropathy Micrognathia Macrocephaly EMG: impaired neuromuscular transmission


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