| HPO |
HP:0005575 |
Hemolytic-uremic syndrome |
"A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease." [PMID:19846853, PMID:28416508] |
— |
HP:0012211 |
| HPO |
HP:0005576 |
Tubulointerstitial fibrosis |
"A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy." [HPO:probinson, PMID:19144691, PMID:22449945] |
This finding is usually shown by renal biopsy. Fibrosis involves an excess accumulation of extracellular matrix and usually results in loss of function when normal tissue is replaced with scar tissue. Tubulointerstitial renal fibrosis, characterized as a progressive detrimental connective tissue deposition on the kidney parenchyma, appears to be a harmful process leading inevitably to renal function deterioration, independently of the primary renal disease which causes the original kidney injury. Epithelial to Mesenchymal Transition (EMT) of tubular epithelial cells which are transformed to mesenchymal fibroblasts migrating to adjacent interstitial parenchyma constitutes the principal mechanism of renal fibrosis along with local and circulating cells. (PMID:20011086) |
HP:0001969, HP:0030760 |
| HPO |
HP:0005579 |
Impaired reabsorption of chloride |
"Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine." [PMID:25820368] |
— |
HP:0011038 |
| HPO |
HP:0005580 |
Duplication of renal pelvis |
"A duplication of the renal pelvis." [HPO:probinson] |
— |
HP:0000075, HP:0010944 |
| HPO |
HP:0005583 |
Tubular basement membrane disintegration |
"DIsruption and breaking up of the basement membrane of the tubules of the kidney." [HPO:probinson] |
Throughout the rest of the nephron, tubule epithelial cells are attached to the tubular basement membrane that overlies the subjacent interstitial connective tissue. The disruption of cell-basement membrane adhesion results in loss of cell orientation, abnormal cell function, and can lead to tissue destruction. |
HP:0020131 |
| HPO |
HP:0005584 |
Renal cell carcinoma |
"A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule." [HPO:probinson] |
Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma. |
HP:0009726 |
| HPO |
HP:0005585 |
Spotty hyperpigmentation |
— |
— |
HP:0007400 |
| HPO |
HP:0005586 |
Hyperpigmentation in sun-exposed areas |
— |
— |
HP:0000953 |
| HPO |
HP:0005587 |
Profuse pigmented skin lesions |
— |
— |
HP:0001000 |
| HPO |
HP:0005588 |
Patchy palmoplantar hyperkeratosis |
"A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected." [HPO:probinson] |
Patchy palmoplantar keratoderma may develop at sites of recurrent friction. |
HP:0000972 |
| HPO |
HP:0005590 |
Spotty hypopigmentation |
— |
— |
HP:0001053 |
| HPO |
HP:0005592 |
Giant melanosomes in melanocytes |
"The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes." [HPO:probinson] |
Giant melanosomes can be seen in cafe-au-lait spots and other melanocytic disorders. Giant melanosome and giant melanosome are synonymous. Macromelanosomes can be detected by electron microscopy of the skin. |
HP:0011125 |
| HPO |
HP:0005593 |
Macular hypopigmented whorls, streaks, and patches |
— |
— |
HP:0001053 |
| HPO |
HP:0005595 |
Generalized hyperkeratosis |
— |
— |
HP:0000962 |
| HPO |
HP:0005597 |
Congenital alopecia totalis |
"Loss of all scalp hair with congenital onset." [HPO:probinson] |
— |
HP:0007418 |
| HPO |
HP:0005598 |
Facial telangiectasia in butterfly midface distribution |
"Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution." [HPO:curators] |
— |
HP:0007380 |
| HPO |
HP:0005599 |
Hypopigmentation of hair |
— |
— |
HP:0009887 |
| HPO |
HP:0005600 |
Congenital giant melanocytic nevus |
"The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child." [HPO:probinson, PMID:21139903] |
Between 4% and 6% of these lesions will develop into a malignant melanoma. |
HP:0000995 |
| HPO |
HP:0005602 |
Progressive vitiligo |
— |
— |
HP:0001045 |
| HPO |
HP:0005603 |
Numerous congenital melanocytic nevi |
— |
— |
HP:0000995 |
| HPO |
HP:0005605 |
Large cafe-au-lait macules with irregular margins |
"Large hypermelanotic macules with jagged borders." [HPO:probinson] |
This type of lesionk is observed in McCune Albright syndrome. The cafe-au-lait macules are larger than those seen in neurofibromatosis, and have more irregular borders. The borders of these macules have been compared to the coast of Maine, whereas the cafe-au-lait spots in neurofibromatosis type 1 have been compared to the coast of California. |
HP:0001034 |
| HPO |
HP:0005606 |
Hyperpigmented nevi and streak |
— |
— |
HP:0000995 |
| HPO |
HP:0005607 |
Abnormal tracheobronchial morphology |
— |
— |
HP:0012252 |
| HPO |
HP:0005608 |
Bilobate gallbladder |
"The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium." [HPO:probinson, PMID:14571173, PMID:16553121, PMID:21170223] |
During the fifth or early sixth embryonic week, occasionally, the gallbladder primordium bifurcates and results in duplication of gallbladder. Duplication results from a split primordium whilst a true accessory gallbladder results from an extra primordium. There are no specific symptoms or signs associated with multiple gallbladders. |
HP:0012437 |
| HPO |
HP:0005609 |
Gallbladder dysfunction |
— |
— |
HP:0012438 |