MCID: FNC049
MIFTS: 19

Fanconi Renotubular Syndrome 3

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Fanconi Renotubular Syndrome 3

MalaCards integrated aliases for Fanconi Renotubular Syndrome 3:

Name: Fanconi Renotubular Syndrome 3 57 75 29 6 73
Frts3 57 75
Fanconi Renotubular Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
fanconi renotubular syndrome 3:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fanconi Renotubular Syndrome 3

UniProtKB/Swiss-Prot : 75 Fanconi renotubular syndrome 3: 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.

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 kidney and bone, and related phenotypes are proteinuria and metabolic acidosis

Description from OMIM: 615605

Related Diseases for Fanconi Renotubular Syndrome 3

Diseases in the Fanconi Renotubular Syndrome 1 family:

Fanconi Renotubular Syndrome 2 Fanconi Renotubular Syndrome 3

Symptoms & Phenotypes for Fanconi Renotubular Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Fanconi Renotubular Syndrome 3:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 proteinuria 32 HP:0000093
2 metabolic acidosis 32 HP:0001942
3 rickets 32 HP:0002748
4 bowing of the legs 32 HP:0002979
5 glycosuria 32 HP:0003076
6 hyperphosphaturia 32 HP:0003109
7 aminoaciduria 32 HP:0003355
8 short stature 32 HP:0004322

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:

41
Kidney, Bone

Publications for Fanconi Renotubular Syndrome 3

Variations for Fanconi Renotubular Syndrome 3

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

75
# Symbol AA change Variation ID SNP ID
1 EHHADH p.Glu3Lys VAR_070949 rs398124646

ClinVar genetic disease variations for Fanconi Renotubular Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EHHADH NM_001966.3(EHHADH): c.7G> A (p.Glu3Lys) single nucleotide variant Pathogenic rs398124646 GRCh37 Chromosome 3, 184971804: 184971804
2 EHHADH NM_001966.3(EHHADH): c.7G> A (p.Glu3Lys) single nucleotide variant Pathogenic rs398124646 GRCh38 Chromosome 3, 185254016: 185254016

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 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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