FRTS3
MCID: FNC049
MIFTS: 21

Fanconi Renotubular Syndrome 3 (FRTS3)

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

Aliases & Classifications for Fanconi Renotubular Syndrome 3

MalaCards integrated aliases for Fanconi Renotubular Syndrome 3:

Name: Fanconi Renotubular Syndrome 3 57 12 72 29 6 70
Frts3 57 72
Fanconi Renotubular Syndrome, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable expressivity
one family has been reported (last curated january 2014)
onset in early childhood
some patients do not have bone disease

Inheritance:
autosomal dominant


HPO:

31
fanconi renotubular syndrome 3:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0080759
OMIM® 57 615605
OMIM Phenotypic Series 57 PS134600
MeSH 44 D005198
UMLS 70 C3810100

Summaries for Fanconi Renotubular Syndrome 3

UniProtKB/Swiss-Prot : 72 Fanconi renotubular syndrome 3: A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS3 inheritance is autosomal dominant.

MalaCards based summary : Fanconi Renotubular Syndrome 3, is also known as frts3. An important gene associated with Fanconi Renotubular Syndrome 3 is EHHADH (Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase). Affiliated tissues include bone, and related phenotypes are short stature and proteinuria

Disease Ontology : 12 A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has material basis in heterozygous mutation in the EHHADH gene on chromosome 3q27.

OMIM® : 57 Fanconi renotubular syndrome-3 (FRTS3) is an autosomal dominant disorder characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria (summary by Klootwijk et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600). (615605) (Updated 05-Apr-2021)

Related Diseases for Fanconi Renotubular Syndrome 3

Symptoms & Phenotypes for Fanconi Renotubular Syndrome 3

Human phenotypes related to Fanconi Renotubular Syndrome 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 proteinuria 31 HP:0000093
3 aminoaciduria 31 HP:0003355
4 rickets 31 HP:0002748
5 metabolic acidosis 31 HP:0001942
6 glycosuria 31 HP:0003076
7 hyperphosphaturia 31 HP:0003109
8 bowing of the legs 31 HP:0002979

Symptoms via clinical synopsis from OMIM®:

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

Skeletal:
rickets
decreased bone density

Skeletal Limbs:
bowed legs
femoral deformity

Genitourinary Kidneys:
fanconi syndrome
proximal renal tubular defect
normal glomerular function
no renal failure

Laboratory Abnormalities:
proteinuria
aminoaciduria
glucosuria
phosphaturia

Metabolic Features:
metabolic acidosis

Growth Other:
poor growth

Clinical features from OMIM®:

615605 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fanconi Renotubular Syndrome 3

Search Clinical Trials , NIH Clinical Center for Fanconi Renotubular Syndrome 3

Genetic Tests for Fanconi Renotubular Syndrome 3

Genetic tests related to Fanconi Renotubular Syndrome 3:

# Genetic test Affiliating Genes
1 Fanconi Renotubular Syndrome 3 29 EHHADH

Anatomical Context for Fanconi Renotubular Syndrome 3

MalaCards organs/tissues related to Fanconi Renotubular Syndrome 3:

40
Bone

Publications for Fanconi Renotubular Syndrome 3

Articles related to Fanconi Renotubular Syndrome 3:

# Title Authors PMID Year
1
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. 6 57
24401050 2014
2
Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects. 6 57
1627757 1992

Variations for Fanconi Renotubular Syndrome 3

ClinVar genetic disease variations for Fanconi Renotubular Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EHHADH NM_001966.4(EHHADH):c.7G>A (p.Glu3Lys) SNV Pathogenic 96711 rs398124646 GRCh37: 3:184971804-184971804
GRCh38: 3:185254016-185254016
2 EHHADH NM_001966.4(EHHADH):c.302G>A (p.Gly101Glu) SNV Likely benign 500959 rs142339349 GRCh37: 3:184953127-184953127
GRCh38: 3:185235339-185235339
3 EHHADH NM_001966.4(EHHADH):c.1189dup (p.Ser397fs) Duplication Likely benign 977889 GRCh37: 3:184910996-184910997
GRCh38: 3:185193208-185193209

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Renotubular Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 EHHADH p.Glu3Lys VAR_070949 rs398124646

Expression for Fanconi Renotubular Syndrome 3

Search GEO for disease gene expression data for Fanconi Renotubular Syndrome 3.

Pathways for Fanconi Renotubular Syndrome 3

GO Terms for Fanconi Renotubular Syndrome 3

Sources for Fanconi Renotubular Syndrome 3

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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