PKDTS
MCID: PLY116
MIFTS: 24

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 57 13
Pkdts 57 20 58
Tuberous Sclerosis/polycystic Kidney Disease Contiguous Gene Syndrome 57 58
Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 20 70
Autosomal Dominant Polycystic Kidney Disease Type 1 with Tuberous Sclerosis 58
Tuberous Sclerosis Polycystic Kidney Disease Contiguous Gene Syndrome 20
Chromosome 16p13.3 Deletion Syndrome, Distal 57
Tsc2/pkd1 Contiguous Gene Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant contiguous deletion of tsc2 and pkd1


HPO:

31
polycystic kidney disease, infantile severe, with tuberous sclerosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 600273
UMLS via Orphanet 71 C1838327
Orphanet 58 ORPHA88924
MedGen 41 C1838327
SNOMED-CT via HPO 68 254921004 263681008 82525005
UMLS 70 C1838327

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 88924 Definition Polycystic 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 ). Epidemiology So far, just over 30 cases have been reported in the literature. Etiology PKD-TSC is a contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Genetic counseling Transmission is autosomal dominant.

MalaCards based summary : Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis, also known as pkdts, is related to polycystic kidney disease and tuberous sclerosis. 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

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 polycystic kidney dysplasia 31 HP:0000113
2 renal angiomyolipoma 31 HP:0006772
3 cortical tubers 31 HP:0009717

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neuro:
tuberous sclerosis

Lab:
multitudinous variably sized renal cysts

G U:
infantile polycystic kidneys
angiomyolipomata

Clinical features from OMIM®:

600273 (Updated 05-Apr-2021)

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:

40
Kidney

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

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

# Title Authors PMID Year
1
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. 57
7894481 1994
2
The cystic renal lesion in tuberous sclerosis. 57
7420220 1980
3
Tuberous sclerosis with striking renal involvement in a family. 57
1156071 1975
4
Tuberous sclerosis presenting as polycystic kidneys and seizures in an infant. 57
5454714 1970
5
A case of TSC2-PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy. 61
33421197 2021
6
TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant. 61
31176519 2020
7
Molecular analysis of TSC2/PKD1 contiguous gene deletion syndrome. 61
22169896 2011

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 TSC2 PKD1

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

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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