MCID: PLY116
MIFTS: 23

Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis

Categories: Rare diseases, Nephrological diseases, Fetal 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
Tuberous Sclerosis/polycystic Kidney Disease Contiguous Gene Syndrome 57 59
Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 53 73
Pkdts 57 53
Autosomal Dominant Polycystic Kidney Disease Type 1 with Tuberous Sclerosis 59
Tuberous Sclerosis Polycystic Kidney Disease Contiguous Gene Syndrome 53
Chromosome 16p13.3 Deletion Syndrome, Distal 57

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant contiguous deletion of tsc2 and pkd1


HPO:

32
polycystic kidney disease, infantile severe, with tuberous sclerosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600273
Orphanet 59 ORPHA88924
UMLS via Orphanet 74 C1838327
MedGen 42 C1838327
SNOMED-CT via HPO 69 263681008 82525005 254921004
UMLS 73 C1838327

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

NIH Rare Diseases : 53 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 acrofacial dysostosis and tuberous sclerosis 2. 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...

Symptoms via clinical synopsis from OMIM:

57
Neuro:
tuberous sclerosis

Lab:
multitudinous variably sized renal cysts

GU:
infantile polycystic kidneys
angiomyolipomata


Clinical features from OMIM:

600273

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

32
# Description HPO Frequency HPO Source Accession
1 polycystic kidney dysplasia 32 HP:0000113
2 renal angiomyolipoma 32 HP:0006772
3 cortical tubers 32 HP:0009717

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:

41
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 8.96 PKD1 TSC2
2 cell cycle arrest GO:0007050 8.62 PKD1 TSC2

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

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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