SHDRA
MCID: STR095
MIFTS: 16

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 57 74 6
Shdra 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
structural heart defects and renal anomalies syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617478
MeSH 44 D000015

Summaries for Structural Heart Defects and Renal Anomalies Syndrome

UniProtKB/Swiss-Prot : 74 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

More information 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:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 partial agenesis of the corpus callosum 32 occasional (7.5%) HP:0001338
2 microcephaly 32 HP:0000252
3 renal insufficiency 32 HP:0000083
4 atrial septal defect 32 HP:0001631
5 tetralogy of fallot 32 HP:0001636
6 interrupted aortic arch 32 HP:0011611
7 ventricular septal defect 32 HP:0001629
8 truncus arteriosus 32 HP:0001660
9 tricuspid atresia 32 HP:0011662
10 renal cyst 32 HP:0000107
11 persistent left superior vena cava 32 HP:0005301
12 generalized edema 32 HP:0007430
13 partial anomalous pulmonary venous return 32 HP:0010773
14 right aortic arch 32 HP:0012020

Symptoms via clinical synopsis from OMIM:

57
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
partial anomalous pulmonary venous return
right aortic arch

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:

41
Heart

Publications for Structural Heart Defects and Renal Anomalies Syndrome

Articles related to Structural Heart Defects and Renal Anomalies Syndrome:

# Title Authors PMID Year
1
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. 8 71
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 GRCh37 Pos GRCh38 Pos
1 TMEM260 NM_017799.4(TMEM260): c.1393C> T (p.Gln465Ter) single nucleotide variant Pathogenic rs201956469 14:57088415-57088415 14:56621697-56621697
2 TMEM260 NM_017799.4(TMEM260): c.1698_1701del (p.Tyr567fs) deletion Pathogenic rs1085307449 14:57099863-57099866 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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