Nephronophthisis 16 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: NPH068 MIFTS: 21	Nephronophthisis 16 Categories: Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Nephronophthisis 16

MalaCards integrated aliases for Nephronophthisis 16:

Name: Nephronophthisis 16 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶ ⁷³

Nphp16 ⁵⁷ ¹² ⁷⁵

Nephronophthisis, Type 16 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
some patients show onset in childhood
progressive renal disorder

HPO:

³²

nephronophthisis 16:
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 615382

Disease Ontology ¹² DOID:0111124

MedGen ⁴² C3809320 CN179770

MeSH ⁴⁴ D052177

UMLS ⁷³ C3809320

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Summaries for Nephronophthisis 16

UniProtKB/Swiss-Prot : ⁷⁵ Nephronophthisis 16: A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis.

MalaCards based summary : Nephronophthisis 16, is also known as nphp16. An important gene associated with Nephronophthisis 16 is ANKS6 (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6). Affiliated tissues include kidney and liver, and related phenotypes are renal insufficiency and hypertrophic cardiomyopathy

Disease Ontology : ¹² A nephronophthisis that has material basis in homozygous mutation in the ANKS6 gene on chromosome 9q22.

Description from OMIM: 615382

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Related Diseases for Nephronophthisis 16

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

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Symptoms & Phenotypes for Nephronophthisis 16

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Liver:
hepatic fibrosis
cholestasis

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)
aortic stenosis (in some patients)
pulmonic stenosis (in some patients)

Genitourinary Kidneys:
renal failure
polycystic kidney disease
enlarged kidneys

Abdomen:
situs inversus (in some patients)

Clinical features from OMIM:

615382

Human phenotypes related to Nephronophthisis 16:

³² (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	renal insufficiency ³²		HP:0000083
2	hypertrophic cardiomyopathy ³²	occasional (7.5%)	HP:0001639
3	patent ductus arteriosus ³²	occasional (7.5%)	HP:0001643
4	hepatic fibrosis ³²		HP:0001395
5	polycystic kidney dysplasia ³²		HP:0000113
6	cholestasis ³²		HP:0001396
7	pulmonic stenosis ³²	occasional (7.5%)	HP:0001642
8	nephronophthisis ³²		HP:0000090
9	situs inversus totalis ³²	occasional (7.5%)	HP:0001696
10	enlarged kidney ³²		HP:0000105
11	aortic valve stenosis ³²	occasional (7.5%)	HP:0001650

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Drugs & Therapeutics for Nephronophthisis 16

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 16

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Genetic Tests for Nephronophthisis 16

Genetic tests related to Nephronophthisis 16:

#	Genetic test	Affiliating Genes
1	Nephronophthisis 16 ²⁹	ANKS6

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Anatomical Context for Nephronophthisis 16

MalaCards organs/tissues related to Nephronophthisis 16:

⁴¹

Kidney, Liver

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Publications for Nephronophthisis 16

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Genes for Nephronophthisis 16

Genes related to Nephronophthisis 16 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ANKS6	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6	Protein Coding	1328.43	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23793029 27336129

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Variations for Nephronophthisis 16

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 16:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	ANKS6	p.Ala312Pro	VAR_070106
2	ANKS6	p.Gln441Arg	VAR_070108	rs377750405

ClinVar genetic disease variations for Nephronophthisis 16:

⁶

(show top 50) (show all 66)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ANKS6	NM_173551.4(ANKS6): c.2370_2372delTCA (p.Tyr790_Ala871del)	deletion	Pathogenic	rs587777025	GRCh37	Chromosome 9, 101513333: 101513335
2	ANKS6	NM_173551.4(ANKS6): c.2370_2372delTCA (p.Tyr790_Ala871del)	deletion	Pathogenic	rs587777025	GRCh38	Chromosome 9, 98751051: 98751053
3	ANKS6	NM_173551.4(ANKS6): c.1322A> G (p.Gln441Arg)	single nucleotide variant	Pathogenic	rs377750405	GRCh37	Chromosome 9, 101542517: 101542517
4	ANKS6	NM_173551.4(ANKS6): c.1322A> G (p.Gln441Arg)	single nucleotide variant	Pathogenic	rs377750405	GRCh38	Chromosome 9, 98780235: 98780235
5	ANKS6	NM_173551.4(ANKS6): c.1973-3C> G	single nucleotide variant	Likely pathogenic	rs397514257	GRCh37	Chromosome 9, 101530535: 101530535
6	ANKS6	NM_173551.4(ANKS6): c.1973-3C> G	single nucleotide variant	Likely pathogenic	rs397514257	GRCh38	Chromosome 9, 98768253: 98768253
7	ANKS6	NM_173551.4(ANKS6): c.2054_2064delATCGGTCAAGC (p.His685Profs)	deletion	Pathogenic	rs587777024	GRCh37	Chromosome 9, 101530441: 101530451
8	ANKS6	NM_173551.4(ANKS6): c.2054_2064delATCGGTCAAGC (p.His685Profs)	deletion	Pathogenic	rs587777024	GRCh38	Chromosome 9, 98768159: 98768169
9	ANKS6	NM_173551.4(ANKS6): c.2512-2A> C	single nucleotide variant	Pathogenic	rs397514258	GRCh37	Chromosome 9, 101498907: 101498907
10	ANKS6	NM_173551.4(ANKS6): c.2512-2A> C	single nucleotide variant	Pathogenic	rs397514258	GRCh38	Chromosome 9, 98736625: 98736625
11	ANKS6	NM_173551.4(ANKS6): c.2203C> G (p.Pro735Ala)	single nucleotide variant	Benign	rs79414550	GRCh37	Chromosome 9, 101518825: 101518825
12	ANKS6	NM_173551.4(ANKS6): c.2203C> G (p.Pro735Ala)	single nucleotide variant	Benign	rs79414550	GRCh38	Chromosome 9, 98756543: 98756543
13	ANKS6	NM_173551.4(ANKS6): c.1767G> A (p.Ala589=)	single nucleotide variant	Benign	rs115807585	GRCh37	Chromosome 9, 101536213: 101536213
14	ANKS6	NM_173551.4(ANKS6): c.1767G> A (p.Ala589=)	single nucleotide variant	Benign	rs115807585	GRCh38	Chromosome 9, 98773931: 98773931
15	ANKS6	NM_173551.4(ANKS6): c.1533A> C (p.Ala511=)	single nucleotide variant	Benign	rs200743968	GRCh37	Chromosome 9, 101540542: 101540542
16	ANKS6	NM_173551.4(ANKS6): c.1533A> C (p.Ala511=)	single nucleotide variant	Benign	rs200743968	GRCh38	Chromosome 9, 98778260: 98778260
17	ANKS6	NM_173551.4(ANKS6): c.664C> T (p.Arg222Trp)	single nucleotide variant	Benign	rs41283630	GRCh37	Chromosome 9, 101552584: 101552584
18	ANKS6	NM_173551.4(ANKS6): c.664C> T (p.Arg222Trp)	single nucleotide variant	Benign	rs41283630	GRCh38	Chromosome 9, 98790302: 98790302
19	ANKS6	NM_173551.4(ANKS6): c.585G> A (p.Leu195=)	single nucleotide variant	Benign	rs75634918	GRCh37	Chromosome 9, 101552663: 101552663
20	ANKS6	NM_173551.4(ANKS6): c.585G> A (p.Leu195=)	single nucleotide variant	Benign	rs75634918	GRCh38	Chromosome 9, 98790381: 98790381
21	ANKS6	NM_173551.4(ANKS6): c.537A> G (p.Gln179=)	single nucleotide variant	Benign	rs200417280	GRCh37	Chromosome 9, 101552711: 101552711
22	ANKS6	NM_173551.4(ANKS6): c.537A> G (p.Gln179=)	single nucleotide variant	Benign	rs200417280	GRCh38	Chromosome 9, 98790429: 98790429
23	ANKS6	NM_173551.4(ANKS6): c.1902G> A (p.Ser634=)	single nucleotide variant	Likely benign	rs765475331	GRCh38	Chromosome 9, 98770966: 98770966
24	ANKS6	NM_173551.4(ANKS6): c.1902G> A (p.Ser634=)	single nucleotide variant	Likely benign	rs765475331	GRCh37	Chromosome 9, 101533248: 101533248
25	ANKS6	NM_173551.4(ANKS6): c.1115A> G (p.Asn372Ser)	single nucleotide variant	Uncertain significance	rs201297615	GRCh37	Chromosome 9, 101544853: 101544853
26	ANKS6	NM_173551.4(ANKS6): c.1115A> G (p.Asn372Ser)	single nucleotide variant	Uncertain significance	rs201297615	GRCh38	Chromosome 9, 98782571: 98782571
27	ANKS6	NM_173551.4(ANKS6): c.658G> A (p.Ala220Thr)	single nucleotide variant	Benign	rs200419394	GRCh37	Chromosome 9, 101552590: 101552590
28	ANKS6	NM_173551.4(ANKS6): c.658G> A (p.Ala220Thr)	single nucleotide variant	Benign	rs200419394	GRCh38	Chromosome 9, 98790308: 98790308
29	ANKS6	NM_173551.4(ANKS6): c.193G> T (p.Val65Phe)	single nucleotide variant	Likely benign	rs745881769	GRCh37	Chromosome 9, 101558581: 101558581
30	ANKS6	NM_173551.4(ANKS6): c.193G> T (p.Val65Phe)	single nucleotide variant	Likely benign	rs745881769	GRCh38	Chromosome 9, 98796299: 98796299
31	ANKS6	NM_173551.4(ANKS6): c.2564T> C (p.Phe855Ser)	single nucleotide variant	Likely benign	rs200644058	GRCh38	Chromosome 9, 98736571: 98736571
32	ANKS6	NM_173551.4(ANKS6): c.2564T> C (p.Phe855Ser)	single nucleotide variant	Likely benign	rs200644058	GRCh37	Chromosome 9, 101498853: 101498853
33	ANKS6	NM_173551.4(ANKS6): c.2327A> G (p.Asp776Gly)	single nucleotide variant	Uncertain significance	rs372265310	GRCh37	Chromosome 9, 101513378: 101513378
34	ANKS6	NM_173551.4(ANKS6): c.2327A> G (p.Asp776Gly)	single nucleotide variant	Uncertain significance	rs372265310	GRCh38	Chromosome 9, 98751096: 98751096
35	ANKS6	NM_173551.4(ANKS6): c.1782C> T (p.Ala594=)	single nucleotide variant	Benign	rs78732864	GRCh37	Chromosome 9, 101536198: 101536198
36	ANKS6	NM_173551.4(ANKS6): c.1782C> T (p.Ala594=)	single nucleotide variant	Benign	rs78732864	GRCh38	Chromosome 9, 98773916: 98773916
37	ANKS6	NM_173551.4(ANKS6): c.1731G> A (p.Thr577=)	single nucleotide variant	Likely benign	rs201821907	GRCh37	Chromosome 9, 101536249: 101536249
38	ANKS6	NM_173551.4(ANKS6): c.1731G> A (p.Thr577=)	single nucleotide variant	Likely benign	rs201821907	GRCh38	Chromosome 9, 98773967: 98773967
39	ANKS6	NM_173551.4(ANKS6): c.1077T> C (p.His359=)	single nucleotide variant	Likely benign	rs369418562	GRCh37	Chromosome 9, 101546270: 101546270
40	ANKS6	NM_173551.4(ANKS6): c.1077T> C (p.His359=)	single nucleotide variant	Likely benign	rs369418562	GRCh38	Chromosome 9, 98783988: 98783988
41	ANKS6	NM_173551.4(ANKS6): c.1913C> T (p.Ser638Leu)	single nucleotide variant	Uncertain significance	rs200373053	GRCh38	Chromosome 9, 98770955: 98770955
42	ANKS6	NM_173551.4(ANKS6): c.1913C> T (p.Ser638Leu)	single nucleotide variant	Uncertain significance	rs200373053	GRCh37	Chromosome 9, 101533237: 101533237
43	ANKS6	NM_173551.4(ANKS6): c.413A> G (p.Asn138Ser)	single nucleotide variant	Uncertain significance	rs374511363	GRCh37	Chromosome 9, 101552835: 101552835
44	ANKS6	NM_173551.4(ANKS6): c.413A> G (p.Asn138Ser)	single nucleotide variant	Uncertain significance	rs374511363	GRCh38	Chromosome 9, 98790553: 98790553
45	ANKS6	NM_173551.4(ANKS6): c.2310C> T (p.Gly770=)	single nucleotide variant	Uncertain significance	rs181456709	GRCh38	Chromosome 9, 98756436: 98756436
46	ANKS6	NM_173551.4(ANKS6): c.2310C> T (p.Gly770=)	single nucleotide variant	Uncertain significance	rs181456709	GRCh37	Chromosome 9, 101518718: 101518718
47	ANKS6	NM_173551.4(ANKS6): c.847G> A (p.Val283Ile)	single nucleotide variant	Uncertain significance	rs748439897	GRCh37	Chromosome 9, 101552401: 101552401
48	ANKS6	NM_173551.4(ANKS6): c.847G> A (p.Val283Ile)	single nucleotide variant	Uncertain significance	rs748439897	GRCh38	Chromosome 9, 98790119: 98790119
49	ANKS6	NM_173551.4(ANKS6): c.532G> A (p.Glu178Lys)	single nucleotide variant	Uncertain significance	rs181546859	GRCh38	Chromosome 9, 98790434: 98790434
50	ANKS6	NM_173551.4(ANKS6): c.532G> A (p.Glu178Lys)	single nucleotide variant	Uncertain significance	rs181546859	GRCh37	Chromosome 9, 101552716: 101552716

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Expression for Nephronophthisis 16

Search GEO for disease gene expression data for Nephronophthisis 16.

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Pathways for Nephronophthisis 16

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GO Terms for Nephronophthisis 16

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Sources for Nephronophthisis 16

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