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1.

Nephronophthisis 1

Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. It is the most frequent genetic cause of renal failure in children. NPHP may be combined with extrarenal manifestations, such as liver fibrosis, situs inversus, or cardiac malformations. When nephronophthisis is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome (SLSN1; 266900); when it is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome (JBTS1; 213300); and when it is combined with multiple developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber syndrome (MKS1; 249000). Because most NPHP gene products localize to the cilium or its associated structures, nephronophthisis and the related syndromes have been termed 'ciliopathies' (summary by Hoff et al., 2013). Clinical features of familial juvenile nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death in uremia. Simms et al. (2009) provided a detailed review of nephronophthisis, including a discussion of clinical features and molecular genetics. Genetic Heterogeneity of Nephronophthisis NPHP2 (602088) is caused by mutation in the INVS gene (243305) on chromosome 9q31; NPHP3 (604387) is caused by mutation in the NPHP3 gene (608002) on chromosome 3q22; NPHP4 (606966) is caused by mutation in the NPHP4 gene (607215) on chromosome 1p36; NPHP7 (611498) is caused by mutation in the GLIS2 gene (608539) on chromosome 16p13; NPHP9 (613824) is caused by mutation in the NEK8 gene (609799) on chromosome 17q11; NPHP11 (613550) is caused by mutation in the TMEM67 gene (609884) on chromosome 8q22; NPHP12 (613820) is caused by mutation in the TTC21B gene (612014) on chromosome 2q24; NPHP13 (614377) is caused by mutation in the WDR19 gene (608151) on chromosome 4p14; NPHP14 (614844) is caused by mutation in the ZNF423 gene (604557) on chromosome 16; NPHP15 (614845) is caused by mutation in the CEP164 gene (614848) on chromosome 11q; NPHP16 (615382) is caused by mutation in the ANKS6 gene (615370) on chromosome 9q22; NPHP18 (615862) is caused by mutation in the CEP83 gene (615847) on chromosome 12q22; NPHP19 (616217) is caused by mutation in the DCDC2 gene (605755) on chromosome 6p22; and NPHP20 (617271) is caused by mutation in the MAPKBP1 gene (616786) on chromosome 15q13. [from OMIM]

MedGen UID:
343406
Concept ID:
C1855681
Disease or Syndrome
2.

Joubert syndrome 4

Classic Joubert syndrome is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. The designation Joubert syndrome and related disorders (JSRD) is used to describe individuals with JS who have additional findings including retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. [from GeneReviews]

MedGen UID:
335526
Concept ID:
C1846790
Disease or Syndrome
3.

Nephronophthisis

The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recongnized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/ adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type). [from GeneReviews]

MedGen UID:
146912
Concept ID:
C0687120
Disease or Syndrome
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
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