Edema, and Nephrolithiasis

Diseases related with Edema and Nephrolithiasis

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

Top matches:

characterized by the deficiency or absence of the enzymes sucrase and isomaltase existing at, and usually before birth; this enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (ie, sucrose) and certain products of starch digestion (dextrins); only evident soon after birth when sucrose or starches, such as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant, breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet.

SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID Is also known as sucrose-isomaltose malabsorption, congenital|disaccharide intolerance i|sucrose intolerance, congenital|si deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID

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

Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

Other less relevant matches:

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

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

Low match ALKAPTONURIA

Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).

ALKAPTONURIA Is also known as homogentisic acid oxidase deficiency|hereditary ochronosis

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hypertension
  • Kyphosis
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ALKAPTONURIA

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

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term).

CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA Is also known as cushing disease, pituitary|primary bilateral macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUSHING SYNDROME DUE TO MACRONODULAR ADRENAL HYPERPLASIA

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Top 5 symptoms//phenotypes associated to Edema and Nephrolithiasis

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Dehydration Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypokalemia Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Sensorineural hearing impairment Hearing impairment Nephrocalcinosis Vomiting Stage 5 chronic kidney disease Renal insufficiency Kyphosis Fatigue

Rare Symptoms - Less than 30% cases

Round face Increased circulating cortisol level Depressivity Macronodular adrenal hyperplasia Dorsocervical fat pad Alkalosis Moon facies Mood changes Abdominal obesity Hyperparathyroidism Pituitary adenoma Truncal obesity Striae distensae Osteoporosis Skeletal muscle atrophy Neoplasm Acne Muscle weakness Diabetes mellitus Osteopenia Generalized hirsutism Bruising susceptibility Hirsutism Increased body weight Thin skin Growth delay Obesity Abnormality of the eye Acidosis Visual impairment Cataract Muscular hypotonia Generalized hypotonia Hypercalciuria Distal renal tubular acidosis Rickets Lethargy Metabolic acidosis Bilateral sensorineural hearing impairment Abdominal pain Polyuria Abnormality of metabolism/homeostasis Renal dysplasia Orbital cyst Macular hyperpigmentation Retinal detachment Recurrent pyelonephritis Ureterovesical junction obstruction Gliosis Abnormality of the genital system Multicystic kidney dysplasia Vesicoureteral reflux Horseshoe kidney Progressive visual loss Renal hypoplasia Visual field defect Renal malrotation Morning glory anomaly High-frequency hearing impairment Chorioretinal atrophy Severe vision loss Arnold-Chiari type I malformation Soft skin Hyperextensible skin Multiple renal cysts Elevated serum creatinine Hydrocele testis Optic nerve coloboma Retinal coloboma Ureteropelvic junction obstruction Nephritis Pyelonephritis Platybasia Chronic kidney disease Abnormality of the genitourinary system Macular degeneration Lens luxation Bilateral renal hypoplasia Mild proteinuria Optic nerve dysplasia Scleral staphyloma Abnormality of the vasculature Ecchymosis Alopecia Menorrhagia Recurrent fractures Hypotension Memory impairment Psychosis Venous thrombosis Recurrent skin infections Lipodystrophy Premature ovarian insufficiency Agitation Orthostatic hypotension Infertility Telangiectasia of the skin Generalized hyperpigmentation Aseptic necrosis Subarachnoid hemorrhage Bipolar affective disorder Adrenal hyperplasia Neoplasm of the endocrine system Decreased circulating ACTH level Onychomycosis Metrorrhagia Sleep disturbance Mental deterioration Amenorrhea Increased circulating ACTH level Emotional lability Glucose intolerance Oligomenorrhea Meningioma Vertebral compression fractures Confusion Poor wound healing Biconcave vertebral bodies Facial erythema Abnormality of the menstrual cycle Anxiety Peripheral edema Menometrorrhagia Adrenocorticotropic hormone excess Abnormal fear/anxiety-related behavior Psychotic mentation Cardiomyopathy Myopathy Immunodeficiency Headache Visual loss Nephropathy Seizures Joint hyperflexibility Mesangial hypercellularity Hyponatremia Congenital sensorineural hearing impairment Hyperaldosteronism Renal salt wasting Abnormally large globe Metabolic alkalosis Tubulointerstitial fibrosis Decreased glomerular filtration rate Hypokalemic alkalosis Hypokalemic metabolic alkalosis Hypernatriuria Increased urinary potassium Glomerulosclerosis Hypochloremia Fetal polyuria Hyperchloriduria Global glomerulosclerosis Hypochloremic metabolic alkalosis Hypokalemic hypochloremic metabolic alkalosis Reduced renal corticomedullary differentiation Paralysis Cerebral calcification Renal tubular acidosis Osteopetrosis Renal potassium wasting Polydipsia Hydrops fetalis Cognitive impairment Thick lower lip vermilion Diarrhea Irritability Malabsorption Abdominal distention Failure to thrive in infancy Malnutrition Abdominal colic Osteomalacia Hyperchloremic metabolic acidosis Weight loss Pulmonic stenosis Aortic valve stenosis Premature birth Hypercalcemia Infantile hypercalcemia Medullary nephrocalcinosis Elfin facies Motor delay Hyporeflexia Prominent forehead Polyhydramnios Protruding ear Small for gestational age Postural instability Triangular face Pain Arthralgia Coloboma Pigmentation of the sclera Aortic valve calcification Mitral valve calcification Intervertebral disc degeneration Calcification of cartilage Cartilage destruction Prostatitis Coronary artery calcification Tendon rupture Thickened Achilles tendon Intervertebral disk calcification Tendonitis Ochronosis Chronic pain Short stature Nystagmus Strabismus Myopia Hydrocephalus Microphthalmia Glaucoma Reduced visual acuity Hydronephrosis Proteinuria Joint laxity Abnormality of the kidney Dark urine Low back pain Arthritis Abnormality of vision Joint stiffness Abnormality of skin pigmentation Aciduria Blue sclerae Myocardial infarction Osteoarthritis Abnormality of the nail Aminoaciduria Joint dislocation Atherosclerosis Reduced bone mineral density Growth abnormality Abnormality of the nose Abnormality of the urinary system Back pain Aortic aneurysm Abnormality of the ear Vertebral fusion Abnormal heart valve morphology Abnormal joint morphology Arthropathy Irregular hyperpigmentation Joint swelling Ankylosis Hearing abnormality Primary hypercortisolism


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