RHDA2
MCID: RNL099
MIFTS: 19

Renal Hypodysplasia/aplasia 2 (RHDA2)

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

Aliases & Classifications for Renal Hypodysplasia/aplasia 2

MalaCards integrated aliases for Renal Hypodysplasia/aplasia 2:

Name: Renal Hypodysplasia/aplasia 2 57 72 29 6 70
Rhda2 57 72
Hypodysplasia/aplasia, Renal, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in utero
one family has been reported (last curated march 2014)


HPO:

31
renal hypodysplasia/aplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615721
OMIM Phenotypic Series 57 PS191830
MeSH 44 D007674
UMLS 70 C3810359

Summaries for Renal Hypodysplasia/aplasia 2

OMIM® : 57 Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830). (615721) (Updated 20-May-2021)

MalaCards based summary : Renal Hypodysplasia/aplasia 2, is also known as rhda2. An important gene associated with Renal Hypodysplasia/aplasia 2 is FGF20 (Fibroblast Growth Factor 20). Related phenotypes are redundant skin and pulmonary hypoplasia

UniProtKB/Swiss-Prot : 72 Renal hypodysplasia/aplasia 2: A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy.

Related Diseases for Renal Hypodysplasia/aplasia 2

Diseases in the Renal Hypodysplasia/aplasia 1 family:

Renal Hypodysplasia/aplasia 2 Renal Hypodysplasia/aplasia 3

Symptoms & Phenotypes for Renal Hypodysplasia/aplasia 2

Human phenotypes related to Renal Hypodysplasia/aplasia 2:

31
# Description HPO Frequency HPO Source Accession
1 redundant skin 31 HP:0001582
2 pulmonary hypoplasia 31 HP:0002089
3 potter facies 31 HP:0002009

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
redundant skin

Head And Neck Face:
potter facies

Skeletal Feet:
pes varus

Genitourinary Ureters:
bilateral ureteral aplasia

Respiratory Lung:
pulmonary hypoplasia

Prenatal Manifestations Amniotic Fluid:
anhydramnios

Genitourinary Kidneys:
bilateral renal aplasia

Clinical features from OMIM®:

615721 (Updated 20-May-2021)

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 2

Search Clinical Trials , NIH Clinical Center for Renal Hypodysplasia/aplasia 2

Genetic Tests for Renal Hypodysplasia/aplasia 2

Genetic tests related to Renal Hypodysplasia/aplasia 2:

# Genetic test Affiliating Genes
1 Renal Hypodysplasia/aplasia 2 29 FGF20

Anatomical Context for Renal Hypodysplasia/aplasia 2

Publications for Renal Hypodysplasia/aplasia 2

Articles related to Renal Hypodysplasia/aplasia 2:

# Title Authors PMID Year
1
FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. 6 57
22698282 2012
2
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. 57
24439109 2014
3
De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia. 57
12694239 2003

Variations for Renal Hypodysplasia/aplasia 2

ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGF20 NM_019851.3(FGF20):c.337del (p.Val113fs) Deletion Pathogenic 126502 rs587777282 GRCh37: 8:16853217-16853217
GRCh38: 8:16995708-16995708
2 FGF20 NM_019851.3(FGF20):c.391-1G>A SNV Likely pathogenic 802391 rs1585100306 GRCh37: 8:16850827-16850827
GRCh38: 8:16993318-16993318

Expression for Renal Hypodysplasia/aplasia 2

Search GEO for disease gene expression data for Renal Hypodysplasia/aplasia 2.

Pathways for Renal Hypodysplasia/aplasia 2

GO Terms for Renal Hypodysplasia/aplasia 2

Sources for Renal Hypodysplasia/aplasia 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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