MCID: FNC059
MIFTS: 39

Fanconi-Like Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Fanconi-Like Syndrome

MalaCards integrated aliases for Fanconi-Like Syndrome:

Name: Fanconi-Like Syndrome 57 12 15
Fanconi Like Syndrome 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
fanconi-like syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 227850
Disease Ontology 12 DOID:0090066
MedGen 42 C0151638
UMLS 73 C0151638

Summaries for Fanconi-Like Syndrome

Disease Ontology : 12 A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.

MalaCards based summary : Fanconi-Like Syndrome, also known as fanconi like syndrome, is related to dent disease 1 and fanconi syndrome. An important gene associated with Fanconi-Like Syndrome is ATP6V0A4 (ATPase H+ Transporting V0 Subunit A4), and among its related pathways/superpathways are Tuberculosis and Phagosome. Affiliated tissues include lung, bone and kidney, and related phenotypes are pancytopenia and osteomyelitis

Description from OMIM: 227850

Related Diseases for Fanconi-Like Syndrome

Diseases in the Fanconi Syndrome family:

Fanconi-Like Syndrome Primary Fanconi Syndrome

Diseases related to Fanconi-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 dent disease 1 10.2 CUBN LRP2
2 fanconi syndrome 10.1 CUBN LRP2
3 donnai-barrow syndrome 10.1 CUBN LRP2
4 renal glucosuria 10.1 ATP6V0A4 SLC5A2
5 mineral metabolism disease 10.0 ATP6V0A4 CASR
6 nephrocalcinosis 10.0 ATP6V0A4 CASR LRP2
7 hypothyroidism, congenital, nongoitrous, 2 10.0 LGALS3 PAX8
8 paraphimosis 10.0 SLC5A2 SLC5A4
9 balanoposthitis 10.0 SLC5A2 SLC5A4
10 osteitis fibrosa 10.0 B2M CASR
11 urinary system disease 10.0 ATP6V0A4 B2M LRP2
12 nephrolithiasis 9.9 ATP6V0A4 CASR LRP2 SLC9A3R1
13 pancytopenia 9.9
14 human immunodeficiency virus infectious disease 9.9
15 aminoaciduria 9.9 B2M SLC5A2
16 parathyroid carcinoma 9.8 CASR LGALS3

Graphical network of the top 20 diseases related to Fanconi-Like Syndrome:



Diseases related to Fanconi-Like Syndrome

Symptoms & Phenotypes for Fanconi-Like Syndrome

Symptoms via clinical synopsis from OMIM:

57
Heme:
pancytopenia

Skel:
osteomyelitis

Skin:
multiple cutaneous malignancies

Immunology:
recurrent infections
low iga

Respiratory:
chronic lung infections
multiple bilateral pneumothoraces


Clinical features from OMIM:

227850

Human phenotypes related to Fanconi-Like Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 pancytopenia 32 HP:0001876
2 osteomyelitis 32 HP:0002754
3 recurrent lower respiratory tract infections 32 HP:0002783
4 multiple bilateral pneumothoraces 32 HP:0005939
5 multiple cutaneous malignancies 32 HP:0007606

MGI Mouse Phenotypes related to Fanconi-Like Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 ANK3 ATP6V0A4 CASR LGALS3 LRP2 PAX8
2 growth/size/body region MP:0005378 10.11 ATP6V0A4 B2M CASR CUBN LAMP1 LGALS3
3 cellular MP:0005384 10.03 B2M CASR LAMP1 LGALS3 LRP2 PAX8
4 mortality/aging MP:0010768 10.03 ANK3 ATP6V0A4 B2M CASR CUBN LAMP1
5 homeostasis/metabolism MP:0005376 10.02 ATP6V0A4 B2M CASR CUBN LGALS3 LRP2
6 digestive/alimentary MP:0005381 9.95 B2M CASR LGALS3 LRP2 RAB11A SLC5A2
7 nervous system MP:0003631 9.76 ANK3 B2M LAMP1 LGALS3 LRP2 PAX8
8 renal/urinary system MP:0005367 9.61 ANK3 ATP6V0A4 CASR CUBN LGALS3 LRP2
9 skeleton MP:0005390 9.23 ATP6V0A4 CASR LAMP1 LGALS3 LRP2 PAX8

Drugs & Therapeutics for Fanconi-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Fanconi-Like Syndrome

Genetic Tests for Fanconi-Like Syndrome

Anatomical Context for Fanconi-Like Syndrome

MalaCards organs/tissues related to Fanconi-Like Syndrome:

41
Lung, Bone, Kidney, Pancreas, Thyroid

Publications for Fanconi-Like Syndrome

Articles related to Fanconi-Like Syndrome:

# Title Authors Year
1
Vps34/PI3KC3 deletion in kidney proximal tubules impairs apical trafficking and blocks autophagic flux, causing a Fanconi-like syndrome and renal insufficiency. ( 30237523 )
2018
2
A Case of Acute Tubulointerstitial Nephritis Associated with Rifampin Therapy Presenting as Fanconi-like Syndrome. ( 28184344 )
2017
3
Acquired Fanconi-like syndrome cases associated with dried chicken and duck meat ingestion. ( 26893338 )
2016
4
Carboplatin-induced Fanconi-like syndrome in rats: amelioration by pentoxifylline. ( 24361643 )
2014
5
Fanconi-like syndrome and rhabdomyolysis in a person with HIV infection on highly active antiretroviral treatment including tenofovir. ( 12963392 )
2003
6
Fanconi-like syndrome. Immunologic deficiency, pancytopenia, and cutaneous malignancies. ( 4692131 )
1973

Variations for Fanconi-Like Syndrome

Expression for Fanconi-Like Syndrome

Search GEO for disease gene expression data for Fanconi-Like Syndrome.

Pathways for Fanconi-Like Syndrome

Pathways related to Fanconi-Like Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.38 ATP6V0A4 LAMP1 PIK3C3
2 10.98 ATP6V0A4 LAMP1 PIK3C3

GO Terms for Fanconi-Like Syndrome

Cellular components related to Fanconi-Like Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 ANK3 ATP6V0A4 B2M CASR CUBN LAMP1
2 cell surface GO:0009986 9.91 ANK3 B2M CASR LAMP1 LGALS3
3 extracellular exosome GO:0070062 9.91 ATP6V0A4 B2M CUBN LAMP1 LGALS3 LRP2
4 axon GO:0030424 9.85 ANK3 CASR LRP2 RAB11A
5 endosome GO:0005768 9.85 ATP6V0A4 CUBN LAMP1 LRP2 PIK3C3 RAB11A
6 lysosome GO:0005764 9.84 ANK3 CUBN LAMP1 LRP2
7 lysosomal membrane GO:0005765 9.83 ATP6V0A4 CUBN LAMP1 LRP2
8 endosome membrane GO:0010008 9.75 ATP6V0A4 CUBN LAMP1
9 vesicle GO:0031982 9.73 LAMP1 RAB11A SLC9A3R1
10 apical plasma membrane GO:0016324 9.72 ATP6V0A4 CASR CUBN LRP2 SLC9A3R1
11 phagocytic vesicle membrane GO:0030670 9.65 ATP6V0A4 B2M PIK3C3
12 phagocytic vesicle GO:0045335 9.63 LAMP1 PIK3C3 RAB11A
13 brush border GO:0005903 9.61 ATP6V0A4 CUBN LRP2
14 multivesicular body GO:0005771 9.57 LAMP1 RAB11A
15 autolysosome GO:0044754 9.49 LAMP1 PIK3C3
16 apical part of cell GO:0045177 9.26 ATP6V0A4 CUBN LRP2 SLC9A3R1
17 brush border membrane GO:0031526 8.92 ATP6V0A4 CUBN LRP2 SLC9A3R1
18 membrane GO:0016020 10.22 ANK3 ATP6V0A4 B2M CASR CUBN LAMP1

Biological processes related to Fanconi-Like Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 9.65 CUBN LRP2 PIK3C3
2 sensory perception of sound GO:0007605 9.54 ATP6V0A4 LRP2 SLC9A3R1
3 protein localization to plasma membrane GO:0072659 9.5 ANK3 RAB11A SLC9A3R1
4 regulation of cytokinesis GO:0032465 9.49 PIK3C3 RAB11A
5 ventricular septum development GO:0003281 9.46 LRP2 PAX8
6 lipoprotein transport GO:0042953 9.43 CUBN LRP2
7 glucose transmembrane transport GO:1904659 9.4 SLC5A2 SLC5A4
8 positive regulation of calcium ion import GO:0090280 9.26 CASR LGALS3
9 vitamin D metabolic process GO:0042359 9.16 CUBN LRP2
10 bile acid secretion GO:0032782 8.96 CASR SLC9A3R1
11 establishment of protein localization to organelle GO:0072594 8.62 LAMP1 RAB11A

Molecular functions related to Fanconi-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 drug binding GO:0008144 9.13 CASR CUBN LRP2
2 glucose:sodium symporter activity GO:0005412 8.62 SLC5A2 SLC5A4

Sources for Fanconi-Like Syndrome

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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