MCID: FNC034
MIFTS: 18

Fanconi Renotubular Syndrome 2

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Fanconi Renotubular Syndrome 2

MalaCards integrated aliases for Fanconi Renotubular Syndrome 2:

Name: Fanconi Renotubular Syndrome 2 57 75 29 13 6 73
Frts2 57 75
Fanconi Renotubular Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
fanconi renotubular syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Renotubular Syndrome 2

UniProtKB/Swiss-Prot : 75 Fanconi renotubular syndrome 2: 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 2, is also known as frts2, and has symptoms including muscle weakness An important gene associated with Fanconi Renotubular Syndrome 2 is SLC34A1 (Solute Carrier Family 34 Member 1). Affiliated tissues include kidney and bone, and related phenotypes are renal insufficiency and proximal tubulopathy

Description from OMIM: 613388

Related Diseases for Fanconi Renotubular Syndrome 2

Diseases in the Fanconi Renotubular Syndrome 1 family:

Fanconi Renotubular Syndrome 2 Fanconi Renotubular Syndrome 3

Symptoms & Phenotypes for Fanconi Renotubular Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
rickets, severe

Growth Height:
short stature

Genitourinary Kidneys:
proximal tubulopathy, generalized
decreased renal tubular reabsorption of phosphate
renal failure, mild to moderate

Muscle Soft Tissue:
muscle weakness

Laboratory Abnormalities:
hypophosphatemia
glucosuria
increased serum alkaline phosphatase activity of skeletal origin
1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood
hypercalciuria (in childhood)
more

Clinical features from OMIM:

613388

Human phenotypes related to Fanconi Renotubular Syndrome 2:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 proximal tubulopathy 32 HP:0000114
3 osteopenia 32 HP:0000938
4 muscle weakness 32 HP:0001324
5 hypophosphatemia 32 HP:0002148
6 hypercalciuria 32 HP:0002150
7 rickets 32 HP:0002748
8 generalized aminoaciduria 32 HP:0002909
9 glycosuria 32 HP:0003076
10 short stature 32 HP:0004322
11 elevated alkaline phosphatase of bone origin 32 HP:0010639

UMLS symptoms related to Fanconi Renotubular Syndrome 2:


muscle weakness

Drugs & Therapeutics for Fanconi Renotubular Syndrome 2

Search Clinical Trials , NIH Clinical Center for Fanconi Renotubular Syndrome 2

Genetic Tests for Fanconi Renotubular Syndrome 2

Genetic tests related to Fanconi Renotubular Syndrome 2:

# Genetic test Affiliating Genes
1 Fanconi Renotubular Syndrome 2 29 SLC34A1

Anatomical Context for Fanconi Renotubular Syndrome 2

MalaCards organs/tissues related to Fanconi Renotubular Syndrome 2:

41
Kidney, Bone

Publications for Fanconi Renotubular Syndrome 2

Variations for Fanconi Renotubular Syndrome 2

ClinVar genetic disease variations for Fanconi Renotubular Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC34A1 NM_003052.4(SLC34A1) duplication Pathogenic rs876657375 GRCh37 Chromosome 5, 176813495: 176813515
2 SLC34A1 NM_003052.4(SLC34A1) duplication Pathogenic rs876657375 GRCh38 Chromosome 5, 177386494: 177386514

Expression for Fanconi Renotubular Syndrome 2

Search GEO for disease gene expression data for Fanconi Renotubular Syndrome 2.

Pathways for Fanconi Renotubular Syndrome 2

GO Terms for Fanconi Renotubular Syndrome 2

Sources for Fanconi Renotubular Syndrome 2

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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