Nephronophthisis 19 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Nephronophthisis 19

MalaCards integrated aliases for Nephronophthisis 19:

Name: Nephronophthisis 19 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶ ⁷³

Nphp19 ⁵⁷ ¹² ⁷⁵

Nephronophthisis, Type 19 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients have been reported (last curated february 2015)
onset of liver involvement in infancy

HPO:

³²

nephronophthisis 19:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616217

Disease Ontology ¹² DOID:0111126

MedGen ⁴² C4015542 CN225923

MeSH ⁴⁴ D052177

SNOMED-CT via HPO ⁶⁹ 258211005 204958008 62484002 more

UMLS ⁷³ C4015542

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Summaries for Nephronophthisis 19

UniProtKB/Swiss-Prot : ⁷⁵ Nephronophthisis 19: A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis.

MalaCards based summary : Nephronophthisis 19, also known as nphp19, is related to sclerosing cholangitis, neonatal and deafness, autosomal recessive 66. An important gene associated with Nephronophthisis 19 is DCDC2 (Doublecortin Domain Containing 2). Affiliated tissues include liver and kidney, and related phenotypes are nephronophthisis and hepatic fibrosis

Disease Ontology : ¹² A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22.

Description from OMIM: 616217

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Related Diseases for Nephronophthisis 19

Diseases in the Nephronophthisis family:

Nephronophthisis 1	Nephronophthisis 2
Nephronophthisis 3	Nephronophthisis 4
Nephronophthisis 7	Nephronophthisis 11
Nephronophthisis 12	Nephronophthisis 9
Nephronophthisis 13	Nephronophthisis 14
Nephronophthisis 15	Nephronophthisis 16
Nephronophthisis 18	Nephronophthisis 19
Nephronophthisis 20	Infantile Nephronophthisis
Juvenile Nephronophthisis	Late-Onset Nephronophthisis

Diseases related to Nephronophthisis 19 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	sclerosing cholangitis, neonatal	9.2	DCDC2 KAAG1
2	deafness, autosomal recessive 66	9.0	DCDC2 KAAG1

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Symptoms & Phenotypes for Nephronophthisis 19

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Liver:
hepatomegaly
hepatic fibrosis
destruction of bile ducts
bile duct proliferation
cholestasis

Genitourinary Kidneys:
nephronophthisis (1 of 2 patients)
increased echogenicity (1 of 2 patients)
tubular dilation (1 of 2 patients)
prominent epithelial luminal budding (1 of 2 patients)
end-stage renal disease (1 of 2 patients)

AbdomenSpleen:
splenomegaly

Clinical features from OMIM:

616217

Human phenotypes related to Nephronophthisis 19:

³² (show all 7)

#	Description	HPO Source Accession
1	nephronophthisis ³²	HP:0000090
2	hepatic fibrosis ³²	HP:0001395
3	cholestasis ³²	HP:0001396
4	bile duct proliferation ³²	HP:0001408
5	splenomegaly ³²	HP:0001744
6	hepatomegaly ³²	HP:0002240
7	stage 5 chronic kidney disease ³²	HP:0003774

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Drugs & Therapeutics for Nephronophthisis 19

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 19

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Genetic Tests for Nephronophthisis 19

Genetic tests related to Nephronophthisis 19:

#	Genetic test	Affiliating Genes
1	Nephronophthisis 19 ²⁹	DCDC2

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Anatomical Context for Nephronophthisis 19

MalaCards organs/tissues related to Nephronophthisis 19:

⁴¹

Liver, Kidney

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Publications for Nephronophthisis 19

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Genes for Nephronophthisis 19

Genes related to Nephronophthisis 19 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DCDC2	Doublecortin Domain Containing 2	Protein Coding	1027.15	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27336129 25557784
2	KAAG1	Kidney Associated Antigen 1	Protein Coding	7.31	GeneCards inferred via : Variants (show sections)

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Variations for Nephronophthisis 19

ClinVar genetic disease variations for Nephronophthisis 19:

⁶

(show all 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DCDC2	NM_016356.4(DCDC2): c.649A> T (p.Lys217Ter)	single nucleotide variant	Pathogenic	rs730880299	GRCh37	Chromosome 6, 24291215: 24291215
2	DCDC2	NM_016356.4(DCDC2): c.649A> T (p.Lys217Ter)	single nucleotide variant	Pathogenic	rs730880299	GRCh38	Chromosome 6, 24290987: 24290987
3	DCDC2	NM_016356.4(DCDC2): c.123_124delGT (p.Ser42Glnfs)	deletion	Pathogenic	rs757704417	GRCh37	Chromosome 6, 24357855: 24357856
4	DCDC2	NM_016356.4(DCDC2): c.123_124delGT (p.Ser42Glnfs)	deletion	Pathogenic	rs757704417	GRCh38	Chromosome 6, 24357627: 24357628
5	DCDC2	NM_016356.4(DCDC2): c.349-2A> G	single nucleotide variant	Pathogenic	rs760040426	GRCh37	Chromosome 6, 24302274: 24302274
6	DCDC2	NM_016356.4(DCDC2): c.349-2A> G	single nucleotide variant	Pathogenic	rs760040426	GRCh38	Chromosome 6, 24302046: 24302046
7	DCDC2	NM_016356.4(DCDC2): c.383C> G (p.Ser128Ter)	single nucleotide variant	Pathogenic	rs904520404	GRCh37	Chromosome 6, 24302238: 24302238
8	DCDC2	NM_016356.4(DCDC2): c.383C> G (p.Ser128Ter)	single nucleotide variant	Pathogenic	rs904520404	GRCh38	Chromosome 6, 24302010: 24302010
9	DCDC2	NM_016356.4(DCDC2): c.942delT (p.Gly315Glufs)	deletion	Likely pathogenic		GRCh37	Chromosome 6, 24205311: 24205311
10	DCDC2	NM_016356.4(DCDC2): c.942delT (p.Gly315Glufs)	deletion	Likely pathogenic		GRCh38	Chromosome 6, 24205083: 24205083
11	DCDC2	NM_016356.4(DCDC2): c.294-2A> G	single nucleotide variant	Pathogenic		GRCh37	Chromosome 6, 24353853: 24353853
12	DCDC2	NM_016356.4(DCDC2): c.294-2A> G	single nucleotide variant	Pathogenic		GRCh38	Chromosome 6, 24353625: 24353625
13	DCDC2	NM_001195610.1(DCDC2): c.769C> T (p.Arg257Cys)	single nucleotide variant	Likely pathogenic	rs909339162	GRCh37	Chromosome 6, 24278430: 24278430
14	DCDC2	NM_001195610.1(DCDC2): c.769C> T (p.Arg257Cys)	single nucleotide variant	Likely pathogenic	rs909339162	GRCh38	Chromosome 6, 24278202: 24278202

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Expression for Nephronophthisis 19

Search GEO for disease gene expression data for Nephronophthisis 19.

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Pathways for Nephronophthisis 19

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GO Terms for Nephronophthisis 19

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Sources for Nephronophthisis 19

¹ BioSystems

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³⁶ IUPHAR

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⁴¹ MalaCards

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia