PKDTS
MCID: PLY116
MIFTS: 21

Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis (PKDTS)

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

MalaCards integrated aliases for Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis:

Name: Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 58 13
Tuberous Sclerosis/polycystic Kidney Disease Contiguous Gene Syndrome 58 60
Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 54 74
Pkdts 58 54
Autosomal Dominant Polycystic Kidney Disease Type 1 with Tuberous Sclerosis 60
Tuberous Sclerosis Polycystic Kidney Disease Contiguous Gene Syndrome 54
Chromosome 16p13.3 Deletion Syndrome, Distal 58

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant contiguous deletion of tsc2 and pkd1


HPO:

33
polycystic kidney disease, infantile severe, with tuberous sclerosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 600273
UMLS via Orphanet 75 C1838327
Orphanet 60 ORPHA88924
MedGen 43 C1838327
SNOMED-CT via HPO 70 254921004 263681008 82525005
UMLS 74 C1838327

Summaries for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 88924Disease definitionPolycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).EpidemiologySo far, just over 30 cases have been reported in the literature.EtiologyPKD-TSC is a contiguous genesyndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3).Genetic counselingTransmission is autosomal dominant.Visit the Orphanet disease page for more resources.

MalaCards based summary : Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis, also known as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome, is related to polycystic kidney disease and cystic kidney disease. An important gene associated with Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis is PKDTS (Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis). Affiliated tissues include kidney, and related phenotypes are polycystic kidney dysplasia and renal angiomyolipoma

Description from OMIM: 600273

Related Diseases for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

Graphical network of the top 20 diseases related to Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis:



Diseases related to Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis

Symptoms & Phenotypes for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

Human phenotypes related to Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis:

33
# Description HPO Frequency HPO Source Accession
1 polycystic kidney dysplasia 33 HP:0000113
2 renal angiomyolipoma 33 HP:0006772
3 cortical tubers 33 HP:0009717

Symptoms via clinical synopsis from OMIM:

58
Neuro:
tuberous sclerosis

Lab:
multitudinous variably sized renal cysts

G U:
infantile polycystic kidneys
angiomyolipomata

Clinical features from OMIM:

600273

Drugs & Therapeutics for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

Search Clinical Trials , NIH Clinical Center for Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis

Genetic Tests for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

Anatomical Context for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

MalaCards organs/tissues related to Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis:

42
Kidney

Publications for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

Variations for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

Expression for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

Search GEO for disease gene expression data for Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis.

Pathways for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

GO Terms for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

Biological processes related to Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 8.62 PKD1 TSC2

Sources for Polycystic Kidney Disease, Infantile Severe, with Tuberous...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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