MCID: RNL099
MIFTS: 19

Renal Hypodysplasia/aplasia 2

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

Aliases & Classifications for Renal Hypodysplasia/aplasia 2

MalaCards integrated aliases for Renal Hypodysplasia/aplasia 2:

Name: Renal Hypodysplasia/aplasia 2 57 75 29 6 73
Rhda2 57 75
Hypodysplasia/aplasia, Renal, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
renal hypodysplasia/aplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615721
MeSH 44 D007674
UMLS 73 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)

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 potter facies

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
potter facies

Genitourinary Kidneys:
bilateral renal aplasia

Skeletal Feet:
pes varus

Prenatal Manifestations Amniotic Fluid:
anhydramnios

Respiratory Lung:
pulmonary hypoplasia

Genitourinary Ureters:
bilateral ureteral aplasia

Skin Nails Hair Skin:
redundant skin


Clinical features from OMIM:

615721

Human phenotypes related to Renal Hypodysplasia/aplasia 2:

32
# Description HPO Frequency HPO Source Accession
1 redundant skin 32 HP:0001582
2 potter facies 32 HP:0002009
3 pulmonary hypoplasia 32 HP:0002089

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

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

41
Kidney, Skin

Publications for Renal Hypodysplasia/aplasia 2

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 GRCh37 Chromosome 8, 16853217: 16853217
2 FGF20 NM_019851.2(FGF20): c.337delG (p.Val113Trpfs) deletion Pathogenic rs587777282 GRCh38 Chromosome 8, 16995708: 16995708

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 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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