MCID: FNC060
MIFTS: 19

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

Categories: Genetic 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 75 29 6 73
Frts4 with Mody 57 75
Frts4 57 75
Fanconi Renotubular Syndrome 4, with Maturity-Onset Diabetes of the Young 57

Characteristics:

OMIM:

57
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:

32
fanconi renotubular syndrome 4 with maturity-onset diabetes of the young:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young: A 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 generalised 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 hyperinsulinism due to hnf4a deficiency 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 nephrocalcinosis and diabetes mellitus

Description from OMIM: 616026

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 hyperinsulinism due to hnf4a deficiency 9.2 HNF4A MIR3646
2 maturity-onset diabetes of the young, type 1 9.0 HNF4A MIR3646

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

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Laboratory Abnormalities:
aminoaciduria
glycosuria
hypouricemia
phosphaturia
low molecular weight proteinuria
more
Growth Weight:
increased birth weight

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

Metabolic Features:
metabolic acidosis due to renal bicarbonate loss

Skeletal:
rickets

Genitourinary Kidneys:
nephrocalcinosis
renal proximal tubule defect

Growth Other:
macrosomia, neonatal

Abdomen Liver:
hepatomegaly (1 patient)


Clinical features from OMIM:

616026

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nephrocalcinosis 32 HP:0000121
2 diabetes mellitus 32 occasional (7.5%) HP:0000819
3 large for gestational age 32 HP:0001520
4 hypoglycemia 32 HP:0001943
5 hepatomegaly 32 occasional (7.5%) HP:0002240
6 rickets 32 HP:0002748
7 glycosuria 32 HP:0003076
8 hyperphosphaturia 32 HP:0003109
9 aminoaciduria 32 HP:0003355
10 hypouricemia 32 HP:0003537
11 short stature 32 HP:0004322

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...

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

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

75
# Symbol AA change Variation ID SNP ID
1 HNF4A p.Arg85Trp VAR_071951 rs587777732

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HNF4A NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs587777732 GRCh38 Chromosome 20, 44406195: 44406195
2 HNF4A NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp) single nucleotide variant Pathogenic rs587777732 GRCh37 Chromosome 20, 43034835: 43034835

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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