MCID: FNC067
MIFTS: 10

Fanconi Renotubular Syndrome 4

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Respiratory diseases

Aliases & Classifications for Fanconi Renotubular Syndrome 4

MalaCards integrated aliases for Fanconi Renotubular Syndrome 4:

Name: Fanconi Renotubular Syndrome 4 12 15
Fanconi Renotubular Syndrome, Type 4 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0080760

Summaries for Fanconi Renotubular Syndrome 4

Disease Ontology : 12 A Fanconi syndrome that has material basis in heterozygous mutation in the HNF4A gene on chromosome 20q13.

MalaCards based summary : Fanconi Renotubular Syndrome 4, also known as fanconi renotubular syndrome, type 4, is related to fanconi renotubular syndrome 4 with maturity-onset diabetes of the young and coloboma of macula. An important gene associated with Fanconi Renotubular Syndrome 4 is HNF4A (Hepatocyte Nuclear Factor 4 Alpha).

Related Diseases for Fanconi Renotubular Syndrome 4

Diseases in the Fanconi Renotubular Syndrome 1 family:

Fanconi Renotubular Syndrome 2 Fanconi Renotubular Syndrome 3
Fanconi Renotubular Syndrome 5 Fanconi Renotubular Syndrome 4

Diseases related to Fanconi Renotubular Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.9
2 coloboma of macula 10.2
3 maturity-onset diabetes of the young, type 1 10.2
4 fanconi-bickel syndrome 10.2
5 hypophosphatemic rickets, x-linked recessive 10.2
6 maturity-onset diabetes of the young 10.2
7 rickets 10.2
8 hypospadias 10.2
9 hyperinsulinism 10.2
10 diabetes mellitus 10.2

Graphical network of the top 20 diseases related to Fanconi Renotubular Syndrome 4:



Diseases related to Fanconi Renotubular Syndrome 4

Symptoms & Phenotypes for Fanconi Renotubular Syndrome 4

Drugs & Therapeutics for Fanconi Renotubular Syndrome 4

Search Clinical Trials , NIH Clinical Center for Fanconi Renotubular Syndrome 4

Genetic Tests for Fanconi Renotubular Syndrome 4

Anatomical Context for Fanconi Renotubular Syndrome 4

Publications for Fanconi Renotubular Syndrome 4

Articles related to Fanconi Renotubular Syndrome 4:

# Title Authors PMID Year
1
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas. 61
33251707 2020

Variations for Fanconi Renotubular Syndrome 4

Expression for Fanconi Renotubular Syndrome 4

Search GEO for disease gene expression data for Fanconi Renotubular Syndrome 4.

Pathways for Fanconi Renotubular Syndrome 4

GO Terms for Fanconi Renotubular Syndrome 4

Sources for Fanconi Renotubular Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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