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Results: 1 to 20 of 76

1.

Nephronophthisis

Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. [from HPO]

MedGen UID:
504336
Concept ID:
CN000090
Finding
2.

Nephronophthisis

MedGen UID:
146912
Concept ID:
C0687120
Disease or Syndrome
3.

Wnt Signaling Pathway

Wnt family members are secreted glycoproteins that bind to cell surface receptors such as Frizzled. Wnt members can play a role in the expression of many genes by interacting with multiple disparate signaling pathways. (BioCarta) [from NCI]

MedGen UID:
277003
Concept ID:
C1520113
Molecular Function
4.

Senior-Loken syndrome 1

Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Leber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.
[from GHR]

MedGen UID:
96045
Concept ID:
C0403553
Disease or Syndrome
5.

Situs inversus

Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). [from OMIM]

MedGen UID:
52359
Concept ID:
C0037221
Congenital Abnormality
6.

Cyst

A sac or capsule in the body. It may be filled with fluid or other material. [from NCI]

MedGen UID:
41396
Concept ID:
C0010709
Disease or Syndrome
7.

Retinitis pigmentosa

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease. [from GeneReviews]

MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
8.

Retinitis

Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis). [from MeSH]

MedGen UID:
19765
Concept ID:
C0035333
Disease or Syndrome
9.

Ataxia

unable to coordinate muscle movement [from CHV]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
10.

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
11.

Kidney disease

A neoplastic or non-neoplastic condition affecting the kidney. Representative examples of non-neoplastic conditions include glomerulonephritis and nephrotic syndrome. Representative examples of neoplastic conditions include benign processes (e.g., renal lipoma and renal fibroma) and malignant processes (e.g., renal cell carcinoma and renal lymphoma). [from NCI]

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
12.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
13.

Fibrosis

The formation of fibrous tissue; fibroid or fibrous degeneration. [from NCI]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
14.

Senior-Loken syndrome

Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. [from ORDO]

MedGen UID:
799426
Concept ID:
CN203826
Disease or Syndrome
15.

Joubert syndrome

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. [from ORDO]

MedGen UID:
799198
Concept ID:
CN205134
Disease or Syndrome
16.

Renal cyst

A cyst is a fluid-filled sac. There are two types of kidney cysts. . Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after many years - people need dialysis or kidney transplantation. About half of people with the most common type of PKD end up with kidney failure. PKD also causes cysts in other parts of the body, such as the liver. . Symptoms of PKD include: -Pain in the back and lower sides. -Headaches. -Urinary tract infections. -Blood in the urine. Doctors diagnose PKD with imaging tests and family history. Treatments include medications, and, when people with PKD develop kidney failure, dialysis or kidney transplants. Acquired cystic kidney disease (ACKD) usually happens in people who are on dialysis. Unlike PKD, the kidneys are normal sized, and cysts do not form in other parts of the body. People with ACKD already have chronic kidney disease when they develop cysts. ACKD often has no symptoms. In most cases, the cysts are harmless and do not need treatment. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
776573
Concept ID:
C2173677
Finding
17.

Aplasia

MedGen UID:
537145
Concept ID:
C0243065
Pathologic Function
18.

Tubulointerstitial fibrosis

Fibrosis that involves the tubules and interstitial tissue of the kidney. [from HPO]

MedGen UID:
505835
Concept ID:
CN004937
Finding
19.

Agenesis of cerebellar vermis

Congenital absence of the `vermis of cerebellum` (FMA:76928). [from HPO]

MedGen UID:
505203
Concept ID:
CN002120
Finding
20.

Situs inversus totalis

A left-right reversal (or \ [from HPO]

MedGen UID:
504917
Concept ID:
CN001542
Finding

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