SHDRA
MCID: STR095
MIFTS: 19

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 56 73 6
Shdra 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
structural heart defects and renal anomalies syndrome:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Structural Heart Defects and Renal Anomalies Syndrome

UniProtKB/Swiss-Prot : 73 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 skin, and related phenotypes are low-set ears and abnormal facial shape

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:

31 (showing 23, show less)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 very rare (1%) HP:0000369
2 abnormal facial shape 31 very rare (1%) HP:0001999
3 renal cyst 31 very rare (1%) HP:0000107
4 neonatal hypotonia 31 very rare (1%) HP:0001319
5 ventricular septal defect 31 very rare (1%) HP:0001629
6 microcephaly 31 very rare (1%) HP:0000252
7 webbed neck 31 very rare (1%) HP:0000465
8 atrial septal defect 31 very rare (1%) HP:0001631
9 interrupted aortic arch 31 very rare (1%) HP:0011611
10 tetralogy of fallot 31 very rare (1%) HP:0001636
11 overlapping toe 31 very rare (1%) HP:0001845
12 preauricular skin tag 31 very rare (1%) HP:0000384
13 truncus arteriosus 31 very rare (1%) HP:0001660
14 tricuspid atresia 31 very rare (1%) HP:0011662
15 elevated serum creatinine 31 very rare (1%) HP:0003259
16 partial agenesis of the corpus callosum 31 very rare (1%) HP:0001338
17 cyanosis 31 very rare (1%) HP:0000961
18 persistent left superior vena cava 31 very rare (1%) HP:0005301
19 generalized edema 31 very rare (1%) HP:0007430
20 partial anomalous pulmonary venous return 31 very rare (1%) HP:0010773
21 right aortic arch 31 very rare (1%) HP:0012020
22 systolic heart murmur 31 very rare (1%) HP:0031664
23 renal insufficiency 31 HP:0000083

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
ventricular septal defect
atrial septal defect
tetralogy of fallot
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:

40
Heart, Skin

Publications for Structural Heart Defects and Renal Anomalies Syndrome

Articles related to Structural Heart Defects and Renal Anomalies Syndrome:

(showing 1, show less)
# Title Authors PMID Year
1
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. 56 6
28318500 2017

Variations for Structural Heart Defects and Renal Anomalies Syndrome

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

6 (showing 5, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM260 NM_017799.4(TMEM260):c.1393C>T (p.Gln465Ter)SNV Pathogenic 426075 rs201956469 14:57088415-57088415 14:56621697-56621697
2 TMEM260 NM_017799.4(TMEM260):c.1698_1701del (p.Tyr567fs)deletion Pathogenic 426076 rs1085307449 14:57099860-57099863 14:56633142-56633145
3 TMEM260 NM_017799.4(TMEM260):c.2082_2086AAGAA[1] (p.Lys696fs)short repeat Likely pathogenic 689638 14:57114173-57114177 14:56647455-56647459
4 TMEM260 NM_017799.4(TMEM260):c.377C>T (p.Ala126Val)SNV Uncertain significance 689637 14:57070565-57070565 14:56603847-56603847
5 TMEM260 NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys)SNV Likely benign 773280 14:57092112-57092112 14:56625394-56625394

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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