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Results: 1 to 20 of 45

1.

Acidosis

An abnormal increase in the acidity of the body's fluids [from CHV]

MedGen UID:
1296
Concept ID:
C0001122
Pathologic Function
2.

Proximal renal tubular acidosis

A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. [from HPO]

MedGen UID:
505072
Concept ID:
CN001853
Finding
3.

Renal tubular acidosis

Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. [from HPO]

MedGen UID:
505019
Concept ID:
CN001761
Finding
4.

Acidosis

Abnormal acid accumulation or depletion of base. [from HPO]

MedGen UID:
505014
Concept ID:
CN001755
Finding
5.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
6.

Proximal renal tubular acidosis

The genetic defect is in the sodium bicarbonate cotransporter gene SLC4A4 resulting in impaired reabsorption of bicarbonate ions in the proximal renal tubules and bicarbonate-wasting. [from MeSH]

MedGen UID:
82804
Concept ID:
C0268435
Disease or Syndrome
7.

Proximal

Situated nearest to a point of reference. [from NCI]

MedGen UID:
64374
Concept ID:
C0205107
8.

Renal tubular acidosis

A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS. [from MeSH]

MedGen UID:
90
Concept ID:
C0001126
Disease or Syndrome
9.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
10.

Fanconi syndrome

Fanconi renotubular syndrome is a consequence of decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis, and a tendency toward dehydration. Some will eventually develop renal insufficiency. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low-molecular-weight proteinuria (summary by Lichter-Konecki et al., 2001). Genetic Heterogeneity of Fanconi Renotubular Syndrome Fanconi renotubular syndrome-1 has been mapped to chromosome 15q15.3. See also autosomal recessive FRTS2 (613388), caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35, and autosomal dominant FRTS3 (615605), caused by mutation in the EHHADH gene (607037) on chromosome 3q27. [from OMIM]

MedGen UID:
4653
Concept ID:
C0015624
Disease or Syndrome
11.

Growth delay

A deficiency or slowing down of growth pre- and postnatally. [from HPO]

MedGen UID:
500905
Concept ID:
CN001379
Finding
12.

Error occurred: cannot get document summary

ID:
449785

13.

Renal Fanconi syndrome

MedGen UID:
341766
Concept ID:
C1857397
Finding
14.

Symptoms

Subjective evidence of disease perceived by the patient. [from NCI]

MedGen UID:
306142
Concept ID:
C1457887
Sign or Symptom
15.

Discontinued

To stop or end, permanently or temporarily. [from NCI]

MedGen UID:
303183
Concept ID:
C1444662
Finding
16.

Impairment

A loss of part or all of a physical or mental ability, such as the ability to see, walk, or learn. [from NCI]

MedGen UID:
151925
Concept ID:
C0684336
Pathologic Function
17.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
18.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
19.

Adult Fanconi syndrome

Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. -- 2003 [from NCI]

MedGen UID:
137960
Concept ID:
C0341703
Disease or Syndrome
20.

Sporadic

MedGen UID:
64410
Concept ID:
C0205422

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