SMABF
MCID: PRN061
MIFTS: 13

Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures (SMABF)

Categories: Bone diseases, Fetal diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

MalaCards integrated aliases for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures:

Name: Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 58
Smabf 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA486811

Summaries for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

MalaCards based summary : Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures, also known as smabf, is related to spinal muscular atrophy and muscular atrophy. An important gene associated with Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures is ASCC1 (Activating Signal Cointegrator 1 Complex Subunit 1). Affiliated tissues include bone.

Related Diseases for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Diseases related to Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 7, show less)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 9.7 TRIP4 ASCC1
2 muscular atrophy 9.7 TRIP4 ASCC1
3 mitochondrial dna depletion syndrome 2 9.7 TRIP4 ASCC1
4 congenital contractures 9.7 TRIP4 ASCC1
5 mitochondrial dna depletion syndrome 3 9.6 TRIP4 ASCC1
6 neuromuscular disease 9.6 TRIP4 ASCC1
7 amyotrophic lateral sclerosis 1 9.5 TRIP4 ASCC1

Graphical network of the top 20 diseases related to Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures:



Diseases related to Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures

Symptoms & Phenotypes for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Drugs & Therapeutics for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Search Clinical Trials , NIH Clinical Center for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures

Genetic Tests for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Anatomical Context for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

MalaCards organs/tissues related to Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures:

40
Bone

Publications for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Articles related to Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures:

(showing 24, show less)
# Title Authors PMID Year
1
Effects of endothelin receptor blockade and COX inhibition on intestinal I/R injury in a rat model: Experimental research. 61
32947061 2020
2
Timing of postexercise carbohydrate-protein supplementation: roles of gastrointestinal blood flow and mucosal cell damage on gastric emptying in humans. 61
28596270 2017
3
Feasibility of measuring superior mesenteric artery blood flow during cardiac surgery under hypothermic cardiopulmonary bypass using transesophageal echocardiography: An observational study. 61
27397442 2016
4
The renal effects of droxidopa are maintained in propranolol treated cirrhotic rats. 61
24517276 2015
5
Pioglitazone decreases portosystemic shunting by modulating inflammation and angiogenesis in cirrhotic and non-cirrhotic portal hypertensive rats. 61
24530596 2014
6
Nebivolol treatment increases splanchnic blood flow and portal pressure in cirrhotic rats via modulation of nitric oxide signalling. 61
23331709 2013
7
Recombinant human manganese superoxide dismutase reduces liver fibrosis and portal pressure in CCl4-cirrhotic rats. 61
22989570 2013
8
Sorafenib attenuates the portal hypertensive syndrome in partial portal vein ligated rats. 61
19726100 2009
9
The role of the sympathetic nervous system in postasphyxial intestinal hypoperfusion in the pre-term sheep fetus. 61
15073276 2004
10
Effects of intra-aortic balloon occlusion on intestinal perfusion, oxygen metabolism and gastric mucosal PCO2 during experimental hemorrhagic shock. 61
15178907 2004
11
Systemic and regional effects of supraceliac aortic occlusion during experimental hepatic vascular exclusion. 61
12657396 2003
12
Chronic type IV phosphodiesterase inhibition protects glomerular filtration rate and renal and mesenteric blood flow in a zymosan-induced model of multiple organ dysfunction syndrome treated with norepinephrine. 61
11123377 2001
13
Physiological control of splanchnic blood flow by adrenaline: studies during acute hypoglycaemia in man. 61
10334968 1999
14
[The effects of moderate acute normovolemic hemodilution on intestinal oxygen supply and consumption in anesthetized cats]. 61
11829848 1999
15
Within- and between-day variability in transcutaneous Doppler ultrasound measurements of superior mesenteric artery blood flow (SMABF) in the fasted state. 61
9626682 1998
16
Effects of F-180, a new selective vasoconstrictor peptide, compared with terlipressin and vasopressin on systemic and splanchnic hemodynamics in a rat model of portal hypertension. 61
9462630 1998
17
Evaluation of the protective effect of a novel prostacyclin analog on mesenteric circulation following warm ischemia. 61
8682140 1996
18
Systematic and regional haemodynamic effects of caffeine and alcohol in fasting subjects. 61
27787687 1995
19
Systemic and regional haemodynamic effects of caffeine and alcohol in fasting subjects [corrected]. 61
7549411 1995
20
Postprandial mesenteric blood flow in humans: relationship to endogenous gastrointestinal hormone secretion and energy content of food. 61
7614106 1995
21
The effect of meal size on the cardiovascular responses to food ingestion. 61
8031733 1994
22
The relationship between blood flow and pulsatility index in the superior mesenteric artery at rest and during constrictor stimuli in normal subjects. 61
8169234 1994
23
Intestinal hemodynamics during laparotomy: effects of thoracic epidural anesthesia and dopamine in humans. 61
2194404 1990
24
Increased flow in the superior mesenteric artery in dumping syndrome. 61
3888339 1985

Variations for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Expression for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Search GEO for disease gene expression data for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures.

Pathways for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

GO Terms for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

Cellular components related to Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 8.62 TRIP4 ASCC1

Sources for Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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