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 58 76 30 6 74
Rhda2 58 76
Hypodysplasia/aplasia, Renal, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
renal hypodysplasia/aplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 615721
MeSH 45 D007674
UMLS 74 C3810359

Summaries for Renal Hypodysplasia/aplasia 2

OMIM : 58 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)

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). Affiliated tissues include kidney and skin, and related phenotypes are redundant skin and pulmonary hypoplasia

UniProtKB/Swiss-Prot : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 redundant skin 33 HP:0001582
2 pulmonary hypoplasia 33 HP:0002089
3 potter facies 33 HP:0002009

Symptoms via clinical synopsis from OMIM:

58
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

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 30 FGF20

Anatomical Context for Renal Hypodysplasia/aplasia 2

MalaCards organs/tissues related to Renal Hypodysplasia/aplasia 2:

42
Kidney, Skin

Publications for Renal Hypodysplasia/aplasia 2

Articles related to Renal Hypodysplasia/aplasia 2:

# Title Authors Year
1
FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. ( 22698282 )
2012

Variations for Renal Hypodysplasia/aplasia 2

ClinVar genetic disease variations for Renal Hypodysplasia/aplasia 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGF20 NM_019851.2(FGF20): c.337delG (p.Val113Trpfs) deletion Pathogenic rs587777282 GRCh38 Chromosome 8, 16995708: 16995708
2 FGF20 NM_019851.2(FGF20): c.337delG (p.Val113Trpfs) deletion Pathogenic rs587777282 GRCh37 Chromosome 8, 16853217: 16853217

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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