RHPD2
MCID: RNL095
MIFTS: 26

Renal-Hepatic-Pancreatic Dysplasia 2 (RHPD2)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Renal-Hepatic-Pancreatic Dysplasia 2

MalaCards integrated aliases for Renal-Hepatic-Pancreatic Dysplasia 2:

Name: Renal-Hepatic-Pancreatic Dysplasia 2 57 72 29 6 39 70
Rhpd2 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in utero
death in utero or early childhood


HPO:

31
renal-hepatic-pancreatic dysplasia 2:
Onset and clinical course stillbirth congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Renal-Hepatic-Pancreatic Dysplasia 2

OMIM® : 57 RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by Grampa et al., 2016). For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (208540). (615415) (Updated 05-Apr-2021)

MalaCards based summary : Renal-Hepatic-Pancreatic Dysplasia 2, is also known as rhpd2. An important gene associated with Renal-Hepatic-Pancreatic Dysplasia 2 is NEK8 (NIMA Related Kinase 8). Affiliated tissues include pancreas, kidney and lung, and related phenotypes are situs inversus totalis and asplenia

UniProtKB/Swiss-Prot : 72 Renal-hepatic-pancreatic dysplasia 2: A form of renal-hepatic-pancreatic dysplasia, a disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates.

Related Diseases for Renal-Hepatic-Pancreatic Dysplasia 2

Diseases in the Renal-Hepatic-Pancreatic Dysplasia family:

Renal-Hepatic-Pancreatic Dysplasia 1 Renal-Hepatic-Pancreatic Dysplasia 2

Symptoms & Phenotypes for Renal-Hepatic-Pancreatic Dysplasia 2

Human phenotypes related to Renal-Hepatic-Pancreatic Dysplasia 2:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 31 occasional (7.5%) HP:0001696
2 asplenia 31 occasional (7.5%) HP:0001746
3 hepatomegaly 31 HP:0002240
4 hepatic fibrosis 31 HP:0001395
5 hypertrophic cardiomyopathy 31 HP:0001639
6 talipes equinovarus 31 HP:0001762
7 truncus arteriosus 31 HP:0001660
8 pulmonic stenosis 31 HP:0001642
9 enlarged kidney 31 HP:0000105
10 cholestasis 31 HP:0001396
11 oligohydramnios 31 HP:0001562
12 pulmonary hypoplasia 31 HP:0002089
13 aortic valve stenosis 31 HP:0001650
14 femoral bowing 31 HP:0002980
15 cystic renal dysplasia 31 HP:0000800

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
hepatomegaly
hepatic fibrosis
cholestasis
ductal plate malformation
cystic dysplasia
more
Skeletal Feet:
talipes equinovarus

Respiratory Lung:
hypoplastic lungs
abnormal lung lobulation

Head And Neck Face:
potter sequence

Abdomen Pancreas:
cystic dysplasia
enlarged pancreas

Abdomen Spleen:
asplenia (in some patients)

Cardiovascular Heart:
hypertrophic cardiomyopathy
truncus arteriosus
pulmonic stenosis
aortic stenosis
cardiac defects
more
Prenatal Manifestations Amniotic Fluid:
oligohydramnios
anhydramnios

Genitourinary Kidneys:
enlarged kidneys
renal cystic dysplasia

Skeletal Limbs:
bowed femurs
shortened legs

Abdomen:
situs inversus (in some patients)

Genitourinary Internal Genitalia Female:
uterine agenesis

Clinical features from OMIM®:

615415 (Updated 05-Apr-2021)

Drugs & Therapeutics for Renal-Hepatic-Pancreatic Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Renal-Hepatic-Pancreatic Dysplasia 2

Genetic Tests for Renal-Hepatic-Pancreatic Dysplasia 2

Genetic tests related to Renal-Hepatic-Pancreatic Dysplasia 2:

# Genetic test Affiliating Genes
1 Renal-Hepatic-Pancreatic Dysplasia 2 29 NEK8

Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia 2

MalaCards organs/tissues related to Renal-Hepatic-Pancreatic Dysplasia 2:

40
Pancreas, Kidney, Lung

Publications for Renal-Hepatic-Pancreatic Dysplasia 2

Articles related to Renal-Hepatic-Pancreatic Dysplasia 2:

# Title Authors PMID Year
1
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. 61 6 57
26697755 2016
2
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel. 57 6
26862157 2016
3
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation. 6 57
26967905 2016
4
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. 57 6
23418306 2013
5
Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy? 57 6
19550299 2009
6
Loss of the ciliary kinase Nek8 causes left-right asymmetry defects. 57
23274954 2013
7
A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish. 57
12421721 2002

Variations for Renal-Hepatic-Pancreatic Dysplasia 2

ClinVar genetic disease variations for Renal-Hepatic-Pancreatic Dysplasia 2:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEK8 NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) SNV Pathogenic 65408 rs375661404 GRCh37: 17:27068158-27068158
GRCh38: 17:28741140-28741140
2 NEK8 NM_178170.3(NEK8):c.1384C>T (p.Arg462Ter) SNV Pathogenic 490184 rs770284675 GRCh37: 17:27066186-27066186
GRCh38: 17:28739168-28739168
3 NEK8 NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter) SNV Pathogenic 191072 rs762826555 GRCh37: 17:27066203-27066203
GRCh38: 17:28739185-28739185
4 NEK8 NM_178170.3(NEK8):c.259A>G (p.Thr87Ala) SNV Pathogenic 490179 rs1555563787 GRCh37: 17:27061795-27061795
GRCh38: 17:28734777-28734777
5 NEK8 NM_178170.3(NEK8):c.47+1G>A SNV Pathogenic 490182 rs1367268677 GRCh37: 17:27055879-27055879
GRCh38: 17:28728861-28728861
6 NEK8 NM_178170.3(NEK8):c.2076dup (p.Ter693LeuextTer?) Duplication Pathogenic 490177 rs755820155 GRCh37: 17:27068995-27068996
GRCh38: 17:28741977-28741978
7 NEK8 NM_178170.3(NEK8):c.379C>T (p.Arg127Ter) SNV Pathogenic 490183 rs752792782 GRCh37: 17:27061915-27061915
GRCh38: 17:28734897-28734897
8 NEK8 NM_178170.3(NEK8):c.1738G>A (p.Gly580Ser) SNV Pathogenic 490181 rs751440831 GRCh37: 17:27068101-27068101
GRCh38: 17:28741083-28741083
9 NEK8 NM_178170.3(NEK8):c.1043C>T (p.Thr348Met) SNV Pathogenic 490178 rs376531637 GRCh37: 17:27064990-27064990
GRCh38: 17:28737972-28737972
10 NEK8 NM_178170.3(NEK8):c.1804C>T (p.Arg602Trp) SNV Pathogenic 490180 rs773883764 GRCh37: 17:27068167-27068167
GRCh38: 17:28741149-28741149
11 NEK8 NM_178170.3(NEK8):c.322TTC[1] (p.Phe109del) Microsatellite Likely pathogenic 974436 GRCh37: 17:27061857-27061859
GRCh38: 17:28734839-28734841
12 NEK8 NM_178170.3(NEK8):c.972C>G (p.Pro324=) SNV Uncertain significance 1031754 GRCh37: 17:27064919-27064919
GRCh38: 17:28737901-28737901
13 NEK8 NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu) SNV Uncertain significance 198630 rs199933041 GRCh37: 17:27065002-27065002
GRCh38: 17:28737984-28737984
14 NEK8 NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser) SNV Uncertain significance 638453 rs1179113718 GRCh37: 17:27064983-27064983
GRCh38: 17:28737965-28737965

Expression for Renal-Hepatic-Pancreatic Dysplasia 2

Search GEO for disease gene expression data for Renal-Hepatic-Pancreatic Dysplasia 2.

Pathways for Renal-Hepatic-Pancreatic Dysplasia 2

GO Terms for Renal-Hepatic-Pancreatic Dysplasia 2

Sources for Renal-Hepatic-Pancreatic Dysplasia 2

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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