FRTS4
MCID: FNC060
MIFTS: 25

Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young (FRTS4)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

MalaCards integrated aliases for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young:

Name: Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 57 72 29 6 70
Frts4 with Mody 57 72
Frts4 57 72
Fanconi Renotubular Syndrome 4, with Maturity-Onset Diabetes of the Young 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset of hypoglycemia and hyperinsulinism in the neonatal period
onset of renal dysfunction in early childhood
some patients develop diabetes mellitus as adolescents


HPO:

31
fanconi renotubular syndrome 4 with maturity-onset diabetes of the young:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 616026
OMIM Phenotypic Series 57 PS134600
UMLS 70 C4014962

Summaries for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

UniProtKB/Swiss-Prot : 72 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young: An autosomal dominant disease characterized by Fanconi syndrome associated with a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Fanconi syndrome is a proximal tubulopathy resulting in generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia.

MalaCards based summary : Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young, also known as frts4 with mody, is related to coloboma of macula and maturity-onset diabetes of the young, type 1. An important gene associated with Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young is HNF4A (Hepatocyte Nuclear Factor 4 Alpha). Related phenotypes are diabetes mellitus and hepatomegaly

More information from OMIM: 616026 PS134600

Related Diseases for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

Diseases related to Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 coloboma of macula 10.5
2 maturity-onset diabetes of the young, type 1 10.5
3 fanconi-bickel syndrome 10.5
4 hypophosphatemic rickets, x-linked recessive 10.5
5 maturity-onset diabetes of the young 10.5
6 fanconi renotubular syndrome 4 10.5
7 rickets 10.5
8 hypospadias 10.5
9 hyperinsulinism 10.5
10 diabetes mellitus 10.5

Graphical network of the top 20 diseases related to Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young:



Diseases related to Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young

Symptoms & Phenotypes for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

Human phenotypes related to Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 31 occasional (7.5%) HP:0000819
2 hepatomegaly 31 occasional (7.5%) HP:0002240
3 short stature 31 HP:0004322
4 proteinuria 31 HP:0000093
5 aminoaciduria 31 HP:0003355
6 rickets 31 HP:0002748
7 hypoglycemia 31 HP:0001943
8 nephrocalcinosis 31 HP:0000121
9 large for gestational age 31 HP:0001520
10 glycosuria 31 HP:0003076
11 hyperphosphaturia 31 HP:0003109
12 hypouricemia 31 HP:0003537

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Skeletal:
rickets

Growth Weight:
increased birth weight

Endocrine Features:
hyperinsulinism
diabetes mellitus (in some patients)
hypoglycemia, neonatal

Metabolic Features:
metabolic acidosis due to renal bicarbonate loss

Laboratory Abnormalities:
aminoaciduria
glycosuria
hypouricemia
phosphaturia
low molecular weight proteinuria
more
Genitourinary Kidneys:
nephrocalcinosis
renal proximal tubule defect

Growth Other:
macrosomia, neonatal

Abdomen Liver:
hepatomegaly (1 patient)

Clinical features from OMIM®:

616026 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

Search Clinical Trials , NIH Clinical Center for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young

Genetic Tests for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

Genetic tests related to Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young:

# Genetic test Affiliating Genes
1 Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young 29 HNF4A

Anatomical Context for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

Publications for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

Articles related to Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young:

# Title Authors PMID Year
1
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. 6 57
24285859 2014
2
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. 57 6
22802087 2012
3
Fainting Fanconi syndrome clarified by proxy: a case report. 6
28693455 2017
4
Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. 6
28458902 2017
5
Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype. 6
27245055 2016
6
Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction. 6
25819479 2015
7
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. 6
20164212 2010
8
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 2021

Variations for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

ClinVar genetic disease variations for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HNF4A NM_175914.4(HNF4A):c.187C>T (p.Arg63Trp) SNV Pathogenic 156152 rs587777732 GRCh37: 20:43034835-43034835
GRCh38: 20:44406195-44406195
2 HNF4A NM_175914.4(HNF4A):c.187C>T (p.Arg63Trp) SNV Pathogenic 156152 rs587777732 GRCh37: 20:43034835-43034835
GRCh38: 20:44406195-44406195
3 HNF4A NM_175914.4(HNF4A):c.187C>T (p.Arg63Trp) SNV Pathogenic 156152 rs587777732 GRCh37: 20:43034835-43034835
GRCh38: 20:44406195-44406195
4 HNF4A NM_175914.4(HNF4A):c.53C>T (p.Thr18Met) SNV Uncertain significance 586012 rs199796094 GRCh37: 20:43034701-43034701
GRCh38: 20:44406061-44406061
5 HNF4A NM_175914.4(HNF4A):c.2T>C (p.Met1Thr) SNV Uncertain significance 689636 rs1229650809 GRCh37: 20:42984446-42984446
GRCh38: 20:44355806-44355806
6 HNF4A NM_000457.5(HNF4A):c.115+11G>A SNV Uncertain significance 828113 rs1254732171 GRCh37: 20:43030138-43030138
GRCh38: 20:44401498-44401498
7 HNF4A NM_000457.5(HNF4A):c.1010_1012TGC[4] (p.Leu341del) Microsatellite Uncertain significance 803609 rs776489992 GRCh37: 20:43052773-43052775
GRCh38: 20:44424133-44424135
8 HNF4A NM_000457.5(HNF4A):c.407G>A (p.Arg136Gln) SNV Uncertain significance 931741 GRCh37: 20:43042355-43042355
GRCh38: 20:44413715-44413715
9 HNF4A NM_175914.4(HNF4A):c.1321A>G (p.Ile441Val) SNV Uncertain significance 36345 rs147638455 GRCh37: 20:43058267-43058267
GRCh38: 20:44429627-44429627

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young:

72
# Symbol AA change Variation ID SNP ID
1 HNF4A p.Arg85Trp VAR_071951 rs587777732

Expression for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

Search GEO for disease gene expression data for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young.

Pathways for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

GO Terms for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

Sources for Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of...

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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