SHDRA
MCID: STR095
MIFTS: 17

Structural Heart Defects and Renal Anomalies Syndrome (SHDRA)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Structural Heart Defects and Renal Anomalies Syndrome

MalaCards integrated aliases for Structural Heart Defects and Renal Anomalies Syndrome:

Name: Structural Heart Defects and Renal Anomalies Syndrome 58 76 6
Shdra 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
phenotypic variability, intrafamilial
patients may die of renal and/or multiorgan failure within the first year of life


HPO:

33
structural heart defects and renal anomalies syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Structural Heart Defects and Renal Anomalies Syndrome

UniProtKB/Swiss-Prot : 76 Structural heart defects and renal anomalies syndrome: An autosomal recessive syndrome characterized by central nervous system, cardiac, renal, and digit abnormalities. Clinical features include ventricular and atrial septal defects, truncus arteriosus, tetralogy of Fallot, partial anomalous pulmonary venous return, renal cysts, renal failure, and generalized edema. Some patients show partial agenesis of corpus callosum.

MalaCards based summary : Structural Heart Defects and Renal Anomalies Syndrome, is also known as shdra. An important gene associated with Structural Heart Defects and Renal Anomalies Syndrome is TMEM260 (Transmembrane Protein 260). Affiliated tissues include heart, and related phenotypes are partial agenesis of the corpus callosum and microcephaly

Description from OMIM: 617478

Related Diseases for Structural Heart Defects and Renal Anomalies Syndrome

Symptoms & Phenotypes for Structural Heart Defects and Renal Anomalies Syndrome

Human phenotypes related to Structural Heart Defects and Renal Anomalies Syndrome:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 partial agenesis of the corpus callosum 33 occasional (7.5%) HP:0001338
2 microcephaly 33 HP:0000252
3 renal insufficiency 33 HP:0000083
4 atrial septal defect 33 HP:0001631
5 tetralogy of fallot 33 HP:0001636
6 ventricular septal defect 33 HP:0001629
7 truncus arteriosus 33 HP:0001660
8 tricuspid atresia 33 HP:0011662
9 interrupted aortic arch 33 HP:0011611
10 renal cyst 33 HP:0000107
11 persistent left superior vena cava 33 HP:0005301
12 generalized edema 33 HP:0007430
13 right aortic arch 33 HP:0012020
14 partial anomalous pulmonary venous return 33 HP:0010773

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
ventricular septal defect
truncus arteriosus
tricuspid valve atresia

Muscle Soft Tissue:
generalized edema

Neurologic Central Nervous System:
partial agenesis of corpus callosum (in some patients)

Cardiovascular Vascular:
interrupted aortic arch
persistent left superior vena cava
right aortic arch
partial anomalous pulmonary venous return

Genitourinary Kidneys:
renal cysts
renal failure

Head And Neck Head:
microcephaly (in 1 patient)

Clinical features from OMIM:

617478

Drugs & Therapeutics for Structural Heart Defects and Renal Anomalies Syndrome

Search Clinical Trials , NIH Clinical Center for Structural Heart Defects and Renal Anomalies Syndrome

Genetic Tests for Structural Heart Defects and Renal Anomalies Syndrome

Anatomical Context for Structural Heart Defects and Renal Anomalies Syndrome

MalaCards organs/tissues related to Structural Heart Defects and Renal Anomalies Syndrome:

42
Heart

Publications for Structural Heart Defects and Renal Anomalies Syndrome

Articles related to Structural Heart Defects and Renal Anomalies Syndrome:

# Title Authors Year
1
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. ( 28318500 )
2017

Variations for Structural Heart Defects and Renal Anomalies Syndrome

ClinVar genetic disease variations for Structural Heart Defects and Renal Anomalies Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM260 NM_017799.3(TMEM260): c.1393C> T (p.Gln465Ter) single nucleotide variant Pathogenic rs201956469 GRCh38 Chromosome 14, 56621697: 56621697
2 TMEM260 NM_017799.3(TMEM260): c.1393C> T (p.Gln465Ter) single nucleotide variant Pathogenic rs201956469 GRCh37 Chromosome 14, 57088415: 57088415
3 TMEM260 NM_017799.3(TMEM260): c.1698_1701del (p.Tyr567Thrfs) deletion Pathogenic rs1085307449 GRCh37 Chromosome 14, 57099863: 57099866
4 TMEM260 NM_017799.3(TMEM260): c.1698_1701del (p.Tyr567Thrfs) deletion Pathogenic rs1085307449 GRCh38 Chromosome 14, 56633145: 56633148

Expression for Structural Heart Defects and Renal Anomalies Syndrome

Search GEO for disease gene expression data for Structural Heart Defects and Renal Anomalies Syndrome.

Pathways for Structural Heart Defects and Renal Anomalies Syndrome

GO Terms for Structural Heart Defects and Renal Anomalies Syndrome

Sources for Structural Heart Defects and Renal Anomalies Syndrome

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
Content
Loading form....