MCID: RNL095
MIFTS: 21

Renal-Hepatic-Pancreatic Dysplasia 2

Categories: Genetic diseases, Nephrological diseases, Endocrine diseases, Liver diseases, Fetal 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 75 29 6 40 73
Rhpd2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
renal-hepatic-pancreatic dysplasia 2:
Mortality/Aging stillbirth
Onset and clinical course 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)

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 kidney, pancreas and liver, and related phenotypes are hepatic fibrosis and truncus arteriosus

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

AbdomenSpleen:
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hepatic fibrosis 32 HP:0001395
2 truncus arteriosus 32 HP:0001660
3 talipes equinovarus 32 HP:0001762
4 oligohydramnios 32 HP:0001562
5 situs inversus totalis 32 occasional (7.5%) HP:0001696
6 asplenia 32 occasional (7.5%) HP:0001746
7 enlarged kidney 32 HP:0000105
8 pulmonary hypoplasia 32 HP:0002089
9 femoral bowing 32 HP:0002980
10 cystic renal dysplasia 32 HP:0000800

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:

41
Kidney, Pancreas, Liver, Lung

Publications for Renal-Hepatic-Pancreatic Dysplasia 2

Variations for Renal-Hepatic-Pancreatic Dysplasia 2

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

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEK8 NM_178170.2(NEK8): c.1795C> T (p.Arg599Ter) single nucleotide variant Pathogenic rs375661404 GRCh37 Chromosome 17, 27068158: 27068158
2 NEK8 NM_178170.2(NEK8): c.1795C> T (p.Arg599Ter) single nucleotide variant Pathogenic rs375661404 GRCh38 Chromosome 17, 28741140: 28741140
3 NEK8 NM_178170.2(NEK8): c.1401G> A (p.Trp467Ter) single nucleotide variant Pathogenic/Likely pathogenic rs762826555 GRCh37 Chromosome 17, 27066203: 27066203
4 NEK8 NM_178170.2(NEK8): c.1401G> A (p.Trp467Ter) single nucleotide variant Pathogenic/Likely pathogenic rs762826555 GRCh38 Chromosome 17, 28739185: 28739185
5 NEK8 NM_178170.2(NEK8): c.2076dup (p.Ter693Leufs) duplication Pathogenic GRCh38 Chromosome 17, 28741984: 28741984
6 NEK8 NM_178170.2(NEK8): c.2076dup (p.Ter693Leufs) duplication Pathogenic GRCh37 Chromosome 17, 27069002: 27069002
7 NEK8 NM_178170.2(NEK8): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs376531637 GRCh38 Chromosome 17, 28737972: 28737972
8 NEK8 NM_178170.2(NEK8): c.1043C> T (p.Thr348Met) single nucleotide variant Pathogenic rs376531637 GRCh37 Chromosome 17, 27064990: 27064990
9 NEK8 NM_178170.2(NEK8): c.259A> G (p.Thr87Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 28734777: 28734777
10 NEK8 NM_178170.2(NEK8): c.259A> G (p.Thr87Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 27061795: 27061795
11 NEK8 NM_178170.2(NEK8): c.1804C> T (p.Arg602Trp) single nucleotide variant Pathogenic rs773883764 GRCh38 Chromosome 17, 28741149: 28741149
12 NEK8 NM_178170.2(NEK8): c.1804C> T (p.Arg602Trp) single nucleotide variant Pathogenic rs773883764 GRCh37 Chromosome 17, 27068167: 27068167
13 NEK8 NM_178170.2(NEK8): c.1738G> A (p.Gly580Ser) single nucleotide variant Pathogenic rs751440831 GRCh38 Chromosome 17, 28741083: 28741083
14 NEK8 NM_178170.2(NEK8): c.1738G> A (p.Gly580Ser) single nucleotide variant Pathogenic rs751440831 GRCh37 Chromosome 17, 27068101: 27068101
15 NEK8 NM_178170.2(NEK8): c.47+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 28728861: 28728861
16 NEK8 NM_178170.2(NEK8): c.47+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 27055879: 27055879
17 NEK8 NM_178170.2(NEK8): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs752792782 GRCh37 Chromosome 17, 27061915: 27061915
18 NEK8 NM_178170.2(NEK8): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs752792782 GRCh38 Chromosome 17, 28734897: 28734897
19 NEK8 NM_178170.2(NEK8): c.1384C> T (p.Arg462Ter) single nucleotide variant Pathogenic rs770284675 GRCh38 Chromosome 17, 28739168: 28739168
20 NEK8 NM_178170.2(NEK8): c.1384C> T (p.Arg462Ter) single nucleotide variant Pathogenic rs770284675 GRCh37 Chromosome 17, 27066186: 27066186

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
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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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